Ciclo-oxigenase-1 (COX-1) também conhecida como prostaglandin G/H synthase 1, prostaglandin-endoperoxide synthase 1 ou prostaglandin H2 synthase 1 é uma enzima que em humanos é codificada pelo gene PTGS1. É responsável pela catálise de prostaglandinas e tromboxano. Possui função fisiológica constitutiva e participa de uma série de processos de manutenção dos processos do organismo como a proteção da mucosa gástrica, hemostasia e regulação de perfusão renal.
Introdução
O que você precisa saber de cara
Doença genética rara que afeta a glicosilação de proteínas, resultando em fibrose hepática, infecções respiratórias recorrentes e alterações neurológicas. Pode apresentar linfoma, síndrome nefrótica transitória e cabelo espesso.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 223 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 636 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
23 genes identificados com associação a esta condição.
Required for normal Golgi function
Golgi apparatus membrane
Congenital disorder of glycosylation 2L
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy.
Antiporter specific for GDP-l-fucose and depending on the concomitant reverse transport of GMP. Involved in GDP-fucose import from the cytoplasm into the Golgi lumen
Golgi apparatus membrane
Congenital disorder of glycosylation 2C
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include intellectual disability, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.
Required for normal Golgi function
Golgi apparatus membrane
Congenital disorder of glycosylation 2H
CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833332)
EndosomeLysosomeEndoplasmic reticulum-Golgi intermediate compartmentCytoplasmic vesicle, COPI-coated vesicleEndoplasmic reticulum
Congenital disorder of glycosylation 2O
A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability.
Bifunctional enzyme that possesses both UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, and serves as the initiator of the biosynthetic pathway leading to the production of N-acetylneuraminic acid (NeuAc), a critical precursor in the synthesis of sialic acids. By catalyzing this pivotal and rate-limiting step in sialic acid biosynthesis, this enzyme assumes a pivotal role in governing the regulation of cell surface sialylation, playing a role in embryonic angiogene
Cytoplasm, cytosol
Sialuria
In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant.
Required for normal Golgi function
Cytoplasm, cytosolGolgi apparatus membrane
Congenital disorder of glycosylation 2I
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments.
Galactosyltransferase acting in the Golgi stacks. Catalyzes the transfer of galactose (Gal) from UDP-alpha-D-galactose in beta(1->4) linkage to the non-reducing terminal N-acetylglucosamine (GlcNAc) moieties of glycolipids and complex-type N-linked glycans (PubMed:16157350, PubMed:27872474, PubMed:29133956, PubMed:36280670, PubMed:37632720, PubMed:38321209). Adds one Gal residue to both GlcNAc beta(1->2)-linked to the alpha(1->3) and alpha(1->6) mannose antennae of complex-type N-glycans, enabli
Golgi apparatus, Golgi stack membraneCell membraneCell surfaceCell projection, filopodiumSecreted
Congenital disorder of glycosylation 2D
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology
CytoplasmNucleus
Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum
Endoplasmic reticulum membrane
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15
An autosomal recessive, congenital muscular disorder characterized by hyperCKemia, myopathic features observed on muscle biopsy, developmental delay, mildly impaired intellectual development with learning difficulties, epilepsy, and mild white matter abnormalities.
Regulates the biosynthesis of dolichol phosphate-mannose (PubMed:10835346). Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1 (PubMed:10835346). Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis (PubMed:161628
Endoplasmic reticulum membrane
Congenital disorder of glycosylation 1U
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-dystroglycan.
Required for normal Golgi function
Golgi apparatus membrane
Congenital disorder of glycosylation 2G
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation.
Required for normal Golgi function
Golgi apparatus membrane
Congenital disorder of glycosylation 2E
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Required for normal Golgi function (PubMed:19536132, PubMed:30290151). Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1 (PubMed:19536132)
Cytoplasm, cytosolGolgi apparatus membrane
Congenital disorder of glycosylation 2J
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex
Cytoplasmic vesicle, COPII-coated vesicle membraneEndoplasmic reticulum membraneCytoplasm, cytosol
Cowden syndrome 7
A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant.
Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation
Immunodeficiency 23
A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity.
Transports uridine diphosphate galactose (UDP-galactose) from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges UDP-galactose for UMP (PubMed:12682060, PubMed:9010752). It is also able to exchange UDP-galactose for AMP and CMP, and to transport UDP-N-acetylgalactosamine (UDP-GalNAc) and other nucleotide sugars (PubMed:11784306, PubMed:12682060). As a provider of UDP-galactose to galactosyltransferases present in the Golgi apparatus, it is necessary for globotriaos
Endoplasmic reticulum membraneGolgi apparatus membrane
Congenital disorder of glycosylation 2M
An X-linked dominant, severe neurologic disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Required for normal Golgi morphology and function
Golgi apparatus membrane
Congenital disorder of glycosylation 2Q
A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The transmission pattern of CDG2Q is consistent with autosomal recessive inheritance.
Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis (PubMed:12213788, PubMed:16923818, PubMed:17273964, PubMed:22242004). Dol-P is a lipid carrier essential for the synthesis of N-linked and O-linked oligosaccharides and for GPI anchors (PubMed:12213788)
Endoplasmic reticulum membrane
Congenital disorder of glycosylation 1M
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1M is a very severe disease with death occurring in early life.
Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex
Endoplasmic reticulum
Congenital disorder of glycosylation 1E
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy.
Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833330). Binds 20(S)-hydro
Cytoplasmic vesicle, COPI-coated vesicle membraneEndoplasmic reticulum-Golgi intermediate compartment membraneEndoplasmic reticulum membrane
Congenital disorder of glycosylation 2P
A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2P is characterized by mild metabolic dysfunction, primarily affecting the liver. Psychomotor development is normal.
Transports CMP-sialic acid from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges CMP-sialic acid for CMP (PubMed:12682060, PubMed:15576474, PubMed:23873973). Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP (By similarity). Also able to exchange CMP-sialic acid for AMP and UMP (PubMed:12682060). Also mediates the transport of CDP-ribitol (By similarity)
Golgi apparatus membraneGolgi apparatus
Congenital disorder of glycosylation 2F
CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Plays a key role in early steps of protein N-linked glycosylation by being involved in the conversion of polyprenol into dolichol (PubMed:20637498, PubMed:38821050). Acts as a polyprenal reductase that mediates the reduction of polyprenal into dolichal in a NADP-dependent mechanism (PubMed:38821050). Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation (PubMed:20637498, PubMed:38821050). Also able to convert testos
Endoplasmic reticulum membrane
Congenital disorder of glycosylation 1Q
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors
Membrane
Congenital disorder of glycosylation 1F
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Variantes genéticas (ClinVar)
203 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
36 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Alteração de glicosilação múltipla
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Publicações mais relevantes
Exogenous photoreceptor-specific N-glycosylated PROM1 rescues retinal degeneration in patient and mouse models.
Human prominin-1 (PROM1) is broadly expressed across multiple tissues. However, its pathogenic variants cause an exclusive retina-related disorder, PROM1-associated inherited retinal dystrophy (PROM1-IRD). The mechanistic basis underlying this tissue-specific vulnerability remains unclear, and no approved targeted therapy is available. Here, we used urine cells, human induced pluripotent stem cells (hiPSCs), hiPSC-retinal pigment epithelial cells, retinal organoids (ROs), and Prom1-/- mice to address these challenges. During photoreceptor differentiation in ROs, PROM1 localized to the apical ciliary compartment and the outer segment (OS)-like structures, co-localizing with ARL13B and PRPH2, and displayed photoreceptor-enriched mRNA splicing isoforms and distinct N-glycosylation patterns. In models derived from an IRD patient harboring a homozygous PROM1 c.619G>T (p.E207×) mutation, PROM1 transcripts underwent both nonsense-mediated mRNA decay and nonsense-associated altered splicing, resulting in complete loss of PROM1 protein and severe disruption of OS-like structures. To restore PROM1 function, a photoreceptor-targeted AAV7m8-CRXp-hPROM1 vector was developed, which efficiently restored PROM1 expression and rescued OS-like structures in patient-derived ROs. In vivo, subretinal delivery of AAV8-CRXp-hPROM1 to Prom1-/- mice produced sustained, photoreceptor-targeted expression of human PROM1, significantly preserving OS morphology and improving visual function. Collectively, these findings implicate a molecular basis for retinal vulnerability to PROM1 variants and provide compelling preclinical evidence supporting adeno-associated-virus-mediated gene augmentation as a therapeutic approach for PROM1-IRD.
Evolutionary lineage and host origin influence virulence and mammalian adaptation of H7N9 avian influenza viruses.
The H7N9 avian influenza virus (AIV) has posed a major global public health concern since its first detection in China in 2013. Transmitted among wild birds and poultry, this virus has crossed the species barrier to infect humans, causing severe respiratory disease and high mortality. Although the widespread use of H7 vaccines has markedly reduced human infections, the ongoing circulation and adaptive evolution of the virus in poultry remain a serious threat. In this study, we analyzed three highly pathogenic H7N9 isolates collected in China in 2022, representing two hemagglutinin (HA) gene evolutionary lineages: Group.y.2.3 (isolate 229-4, chicken origin; isolate 782-2, quail origin) and Group.y.2.4 (isolate 621, quail origin). Pathogenicity was compared through phylogenetic analysis, molecular characterization, and infection experiments in both avian and mammalian models. Group.y.2.3 isolates displayed stronger replication and pathogenicity in chickens and mice, with isolate 782-2 being the most virulent. The chicken-origin isolate 229-4 caused more severe weight loss and higher viral loads in the lungs of mice, indicating that host origin influences cross-species transmission potential. Molecular analyses revealed that all isolates possessed multiple basic cleavage sites and mutations linked to mammalian adaptation, including HA 186 V. Some isolates also harbored newly acquired glycosylation sites associated with immune evasion. Overall, our findings demonstrate that both genetic lineage and host origin shape the biological characteristics of H7N9 isolates. Group.y.2.3 isolates warrant priority in surveillance, providing critical insights for vaccine updates and risk assessment.
Siamese Twins: The Multimodular Mechanisms of Golgi Maturation and Glycan Synthesis Are Coupled at Their Core.
The Golgi apparatus functions as the central processing hub for proteins and lipids, orchestrating glycosylation, sorting, and secretion. Once viewed as a passive site of bulk enzyme recycling, the Golgi is now recognized as a highly dynamic, multimodular system in which intra-Golgi trafficking and glycan synthesis operate as tightly interdependent "Siamese twins." The classical cisternal maturation model, initially based on uniform COPI-mediated recycling, has evolved into the multimodular cisternal maturation (MCM) framework, revealing the coexistence of multiple, specialized recycling modules. Distinct sets of glycosyltransferases form coherent enzymatic modules, each maintained by dedicated retrograde pathways-some COPI-dependent, others COPI-independent-that ensure compartmental fidelity and enable differential regulation of glycan synthesis. These pathways are coordinated by adaptors, retainers, and lipid identity cues that collectively sustain Golgi polarity and adaptability to cellular and metabolic states. Disruption of this modular recycling logic leads to enzyme mislocalization, defective glycosylation, and disease, ranging from congenital disorders of glycosylation to oncogenic transformation. The transition from bulk to multimodular recycling thus redefines the Golgi as an integrated regulatory platform linking membrane trafficking to metabolic and signaling networks.
GARP Complex in Golgi Physiology.
The Golgi Associated Retrograde Protein (GARP) complex, a member of the Complexes Associated with Tethering Containing Helical Rods (CATCHR) family, is proposed to tether vesicles arriving from endosomes to the trans-Golgi network (TGN). Discovered nearly 25 years ago, this protein complex is important for sorting vacuolar hydrolases and recycling membrane proteins from the endosomal/prevacuolar compartment to the TGN; however, its exact function, molecular partners, and the nature of GARP-dependent trafficking intermediates remain understudied. GARP-dependent transport route is utilized by various plasma membrane recycling proteins, lysosomal hydrolase receptors, and pathogens, including toxins. Mutations in GARP subunits have been associated with multiple neurological disorders, although the precise mechanisms by which these mutations lead to these conditions remain unclear. This chapter reviews the current understanding of GARP's structure, function, interacting partners, mutations, and associated pathologies in both humans and model organisms.
CSF-Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery.
To characterize Fc-glycosylation profiles in patients with anti-N-methyl-D-aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor-related or idiopathic), and 1-year outcomes. We analyzed immunoglobulin (Ig) G1 and IgG2/3 Fc-glycosylation by liquid chromatography-mass spectrometry in paired serum/CSF samples from 50 age- and sex-matched patients with NMDARe identified in IDIBAPS/Hospital Clinic of Barcelona database and the Spanish study on herpes encephalitis. Patients were classified by disease trigger as post-herpetic, tumor-related, or idiopathic. One-year outcomes were defined as good (modified Rankin Scale [mRS] ≤2) or poor (≥3). Fc glycoprofiles were quantified for fucosylation, sialylation, galactosylation, and bisecting N-acetylglucosamination. Across IgG subclasses (IgG1-3), CSF antibodies showed significantly reduced sialylation and galactosylation compared to serum (p < 0.0001), indicating a pro-inflammatory compartmentalized response within the central nervous system. These inflammatory Fc-glycoforms were predominant in post-herpetic cases of NMDARe (p < 0.01) compared to tumor-related and idiopathic forms, suggesting that viral-induced NMDAR may alter antibody Fc-glycosylation via B-cell glycosylation pathway modulation. Furthermore, reduced sialylation, galactosylation and fucosylation in CSF and serum were associated with poor 1-year outcomes (p < 0.05), suggesting that compartmentalized inflammation and enhanced innate immune activation, including natural killer (NK) cell-mediated cytotoxicity driven by afucosylated antibodies, might contribute to neurological dysfunction. In NMDARe, CSF Fc-glycosylation profiles are both compartment- and trigger-specific. Because glycan signatures shape innate immune interactions (e.g., with NK cells), these findings highlight distinct pathogenic mechanisms and support Fc-glycosylation profiling as a potential prognostic biomarker. ANN NEUROL 2026.
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Juntendo medical journalRelevance analysis of N-glycan variations in C2C12 cells and mouse serum under simulated microgravity using a quaternary phosphonium hydrazide labeling strategy-based mass spectrometry quantitation approach.
Analytical and bioanalytical chemistrySerum soluble ASGR1 concentration is elevated in patients with metabolic dysfunction-associated steatotic liver disease and is associated with adiponectin.
BMJ open diabetes research & careSpectrum of Cardiac Complications in Diabetic Patients in Rural Uttar Pradesh, India: A Hospital-Based Study.
CureusGMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Journal of inherited metabolic diseasePMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.
Pediatric transplantationIs Toxoplasma gondii-secreted Protein With an Altered Thrombospondin Repeat (TgSPATR) a Potential Candidate for Immunisation? An Immunoinformatics-Based Analysis.
Veterinary medicine and scienceOligosaccharyltransferase (OST) complex inhibition effectively treats rodent and human prions.
PLoS pathogensDiagnostic Potential of Tn-MUC1 in Breast Cancer: A Novel Immunohistochemical Marker Reflecting Tumor Progression.
Laboratory investigation; a journal of technical methods and pathologyStructure and multiple functions of von Willebrand factor.
HaematologicaStreptomycin mitigates methylglyoxal-induced carbonyl stress through its antiglycation activity: A drug-repurposing approach for carbonyl stress-related disorder.
Chemico-biological interactionsFactors influencing nutrition literacy in patients of type 2 diabetes mellitus: a cross-sectional study.
Frontiers in nutritionGlycosylation of GETV E2 promotes pathogenesis in animal models.
Proceedings of the National Academy of Sciences of the United States of AmericaHCV Genotype Distribution and Molecular Characteristics of HCV Core Domain I in Persons Living with HIV and HCV from Yunnan Province, China.
AIDS research and human retrovirusesAntibody glycosylation in neuroimmune diseases.
Journal of translational medicineClinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.
Orphanet journal of rare diseases[Inhibition of O-GlcNAc transferase alleviates liver pathological changes in spontaneously obese mice].
Sheng li xue bao : [Acta physiologica Sinica]ATM interaction with GRP94 modulates oncogenic receptor expression and signaling and microglial activation.
Proceedings of the National Academy of Sciences of the United States of AmericamRNA-LNP vaccine encoding CDV hemagglutinin confers effective protection in raccoon dogs.
NPJ vaccinesPhytochemicals from Achillea millefolium target NAFLD and NASH: A network pharmacology integrated bioinformatics and molecular docking investigation.
Computational biology and chemistryInterferon-stimulated gene GALNT2 restricts respiratory virus infections.
Nature microbiologyRNF13 is a previously undescribed interactor of iduronate 2-sulfatase that modifies its glycosylation and maturation.
The FEBS journalGlySitePred: Identification of Glycation Modification Sites Based on Deep Feature Fusion and NCR-CC Sampling Technology.
Journal of chemical information and modelingProfiling Associations Between IGHG-FCGR Ligand-Receptor Interactions and Disease Progression From Stage 1 and 2 to Stage 3 Type 1 Diabetes.
DiabetesIdentification and characterization of Porphyromonas gingivalis TonB.
bioRxiv : the preprint server for biologyEpididymal epithelial cells facilitate NEU1 loading to modulate sperm α-2,6 sialylation, enhance maturation and motility.
Cellular and molecular life sciences : CMLSA Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin-Associated RP Models.
Investigative ophthalmology & visual scienceExtended verification of an automated MALDI-TOF mass spectrometry system for high throughput serum M-protein measurement.
Clinical chemistry and laboratory medicineIn Vitro Evaluation of Sugar-Conjugated Thienopyrimidinone Derivatives with Possible Neuroprotective and Antioxidant Effects.
International journal of molecular sciencesThe Emerging Role of Sialic Acids in Obesity and Diabetes: Molecular Mechanisms and Therapeutic Perspectives.
BiomoleculesGenome landscape of the universal stress protein gene family in lettuce and expression profile in response to heat stress.
BMC plant biologyAtomic structure and in situ visualization of native PMEL lamellae in melanosomes.
Nature communicationsClinical and functional characterization of a novel heterozygous mutation c.473T > A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia.
Thrombosis journalMultivariate analysis of glycogenes reveals coordinated regulation of immunoglobulin glycosylation in an immortalized human B cell system.
bioRxiv : the preprint server for biologyComparative Study of Glycemic Control and Treatment Satisfaction in Patients With Type 1 Diabetes on Sensor-Augmented Insulin Pump, Insulin Pump, and Multiple Daily Insulin Injections: A Cross-Sectional Study.
CureusClinical Profile of Psoriasis Patients With Comorbid Fatty Liver and Risk Factors for Advanced Liver Fibrosis in Those With Metabolic Dysfunction-Associated Steatotic Liver Disease.
The Journal of dermatologyNanoscale Mapping of the Subcellular Glycosylation Landscape.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Insights into the multifunctionality of viral glycoproteins F and HN in the lifecycle and pathogenesis of Newcastle disease virus: a systematic review.
Veterinary researchCongenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy.
BMJ case reportsIn vitro cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient.
Frontiers in geneticsMS1-96 induces HIP1R-dependent PD-L1 degradation and promotes antitumor immunity in colorectal cancer.
Acta pharmacologica SinicaElevated fasting glucose levels associated with H. pylori acute gastritis: an observational study.
Journal of medicine and lifeGlycemic, renal, and graft outcomes with dulaglutide versus multiple daily insulin therapy after kidney transplantation in type 2 diabetes.
Diabetes research and clinical practiceCandidate genes at the Rmi1 locus for resistance to Meloidogyne incognita in soybean.
TAG. Theoretical and applied genetics. Theoretische und angewandte GenetikCampylobacter hepaticus Transcriptomics Identified Genes Involved in Spotty Liver Disease (SLD) Pathogenesis.
Pathogens (Basel, Switzerland)Pro-Inflammatory Protein PSCA Is Upregulated in Neurological Diseases and Targets β2-Subunit-Containing nAChRs.
BiomoleculesQuantitative Targeted Analysis of Antibody Fc Glycosylation by Glyco-MRM.
Journal of proteome researchModulation of OGG1 enzymatic activity by the cellular machinery - have all the boxes been ticked?
DNA repairIsolation and molecular characterization of subgroup J avian leukosis virus in native chicken breeds of China during 2022-2025.
Frontiers in microbiologyDecoding Glycosylation in Neurodegenerative Diseases: Mechanistic Insights and Therapeutic Opportunities.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyPlasma N-Glycan Profiling Enhances Diagnostic Precision in Multiple Sclerosis, AQP4-Ab NMOSD, and MOGAD.
Neurology(R) neuroimmunology & neuroinflammationSubgrouping patients with type 2 diabetes using behavioural and clinical factors: a cross-sectional study in a hospital-based setting in Thailand.
BMJ openAssociation of Serum Thyroid Profile and Glycated Hemoglobin Levels in Diabetic Patients: A Cross-Sectional Study.
CureusThe Importance of N- and O-Glycosylation of Brain Cell Surface Glycoproteins.
Glycobiology2B4/CD244 Signaling in Immune Regulation and Its Role in Infection, Cancer, and Immune Tolerance.
ImmunoTargets and therapyMolecular dynamics insights into glycosaminoglycan effects on the extracellular domains of syndecan 2 and 4 dimers.
Carbohydrate researchAbnormal Biochemical Parameters of Macro- and Microvascular Complications in Diabetic Patients at the Bafoussam Regional Hospital of the West Region, Cameroon.
CureusA new formula for evaluating culprit lesion characteristics in STEMI patients based on baseline.
American heart journal plus : cardiology research and practiceAbnormal O-glycan sialylation in the mPFC contributes to depressive-like behaviors in male mice.
Science advancesComprehensive and Site-Specific Characterization of Protein N-Glycosylation in AD Samples Reveals Its Potential Roles in Protein Aggregation and Synaptic Dysfunction.
Analytical chemistryPharmacological Diversity of Flavonoids and Their Clinical Application Prospects in Neurological Disorders.
Phytotherapy research : PTRCD19 structure, expression, and signaling: From basic mechanisms to therapeutic targeting.
Advances in biological regulationExtracellular matrix protein 1 in cancer: multifaceted roles in tumor progression, prognosis, and therapeutic targeting.
Archives of pharmacal researchGlycosylation in neuroinflammation: mechanisms, implications, and therapeutic strategies for neurodegenerative diseases.
Translational neurodegenerationRestoration of glucose metabolic homeostasis for treating CNS diseases: mechanistic insights and potential clinical prospect.
Free radical biology & medicineThe Transformative Role of Mass Spectrometry in Diagnosing and Monitoring Monoclonal Gammopathies and Plasma Cell Disorders.
The journal of applied laboratory medicineThe B7-H3 (CD276) pathway: emerging biology and clinical therapeutics.
Trends in pharmacological sciencesNaturally acquired promoter variation influences Streptococcus pneumoniae infection outcomes.
Cell host & microbeEpidemiological dynamics of influenza B virus across multiple seasons in Kenya and Uganda inferred from sequence data, 2010-2021.
BMC infectious diseasesInvestigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.
Archives of Iranian medicineA Phase II Random, Double-Blind, Placebo-Controlled Study of the Safety and Immunogenicity of a Recombinant G Protein-Based Respiratory Syncytial Virus Vaccine in Healthy Older Adults.
VaccinesThe β-1,4 GalT-V Interactome-Potential Therapeutic Targets and a Network of Pathways Driving Cancer and Cardiovascular and Inflammatory Diseases.
International journal of molecular sciencesBi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay.
International journal of molecular sciencesEpidemiology and Genetic Diversity of Human Metapneumovirus in Patients with Severe Acute Respiratory Infection from 2023 to 2024 in Ningxia, China.
Diseases (Basel, Switzerland)Development and internal validation of a machine learning algorithm for the risk of type 2 diabetes mellitus in children with obesity.
Frontiers in endocrinologyDevelopment of avian influenza A(H5) virus datasets for Nextclade enables rapid and accurate clade assignment.
Virus evolutionPNH clones prevalence study in ph-negative myeloproliferative neoplasms: a multicenter Italian study.
Annals of hematologyPredictable Modulation of a Spontaneous Post-translational Modification in Living Cells.
Angewandte Chemie (International ed. in English)Integrating bioinformatics and machine learning to elucidate the role of protein glycosylation-related genes in the pathogenesis of diabetic kidney disease.
PloS oneNovel pathogenic MAN2B2 variants cause systemic lupus erythematosus and dysregulated glycosylation.
Clinical immunology (Orlando, Fla.)Intriguing role of the Golgi apparatus in astrocyte function: Implications for disorders.
Neural regeneration researchFunctional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.
American journal of medical genetics. Part ALaboratory diagnosis of congenital and acquired coagulopathies, including challenging-to-diagnose rare bleeding disorders.
PathologySerum Vitamin B12 Level in Children with Type 1 Diabetes.
Journal of Nepal Health Research CouncilPhosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.
Frontiers in endocrinologyAssociation between cardiovascular disease and peripheral arterial disease implications for patient safety.
BMC cardiovascular disordersGlycemic, lipid, anthropometric and body composition responses to two Mango varieties versus white bread in people with type 2 diabetes: an 8-week randomised controlled trial.
Journal of diabetes and metabolic disordersCommiphora leptophloeos leaf and bark extracts modulate OxInflammation through TLR4/ NF-κB/ Nrf2 pathways.
Journal of ethnopharmacologyAnalysis of gastric electrical rhythm in patients with metabolic dysfunction-associated steatotic liver disease and type 2 diabetes mellitus.
World journal of hepatologySerum N-Glycan Signatures as Potential Biomarkers for the Detection and Monitoring of IgG4-Related Disease.
Journal of proteome researchThe XEC Variant: Genomic Evolution, Immune Evasion, and Public Health Implications.
VirusesTwo novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.
Frontiers in geneticsEnzymatic synthesis and mechanistic insights into the hepatoprotective effects of α-monoglucosyl rutin against cyclophosphamide-induced liver injury: a multi-omics approach.
International immunopharmacologyA Glycoproteome Data Mining Strategy for Characterizing Structural Features of Altered Glycans with Thymic Involution.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Persistent Neutropenia and Atopy in an Adolescent: A Subtle Presentation of Phosphoglucomutase 3 Deficiency.
CureusPredictive value of Glycosylated Fibronectin (GlyFn)/Placenta Growth Factor (PlGF) ratio for high-risk pregnancies: a cohort study.
BMC pregnancy and childbirthThe biology of interleukin-6 family cytokines is regulated by glycosylation.
The Biochemical journalIrisin: Emerging Therapeutic Targets for Cognitive Impairment-Related Diseases.
Expert reviews in molecular medicineB4GALT3 as a Key Glycosyltransferase Gene in Multiple Myeloma Progression: Insights From Bioinformatics, Machine Learning, and Experimental Validation.
Molecular carcinogenesisInsights into the detection of AMPA cross-reactivity: comparing cyclic peptide- to protein-based assays.
Arthritis research & therapyA mass spectrometry-based assay for mouse IgG N-glycan screening in biofluids.
Analytical and bioanalytical chemistryUltradeep N-glycoproteome atlas of mouse reveals spatiotemporal signatures of brain aging and neurodegenerative diseases.
Nature communicationsMultiple Exposures of Plasma to Nanoparticles: A Novel Tool to Personalize Biomolecular Coronas and Fractionate Fluids.
Analytical chemistryAryl hydrocarbon receptor impairs HK2-controlled flux of the hexosamine biosynthesis pathway to suppress NETosis in an N-glycosylation-dependent manner.
Journal of advanced researchA biparatopic HER2-targeting ADC constructed via site-specific glycan conjugation exhibits superior stability, safety, and efficacy.
RSC chemical biologyParkinson's disease-linked Kir4.2 mutation R28C leads to loss of ion channel function.
The Journal of physiologyMultiple Mechanisms of HIV-1 Resistance to PGT135 in a Chinese Subtype B' Slow Progressor.
Pathogens (Basel, Switzerland)Genetic characterization and pathogenicity analysis of three porcine epidemic diarrhea virus strains isolated from North China.
Veterinary researchAccurate Diagnosis of Colorectal Cancer Using a Combination of Lectin-Induced Recombinase Polymerase Amplification and CRISPR/Cas12a Assay on a Point-of-Care Testing Platform with Deep Learning Assistant.
Analytical chemistryGlycoside hydrolase 28 family protein RsPG1 from Rhizoctonia solani motivates immune response to pathogen attack in different host plants.
International journal of biological macromoleculesStudy on the Mechanism of Dihydromyricetin in Alleviating Depressive-Like Behavior in Rats Based on Network Pharmacology.
Neurochemical researchStudy on the correlation between abnormal bone metabolism and cognitive impairment in type 2 diabetes mellitus.
Frontiers in medicineDeveloping and validating a predictive model for all-cause mortality in patients with metabolic dysfunction-associated steatotic liver disease.
Diabetology & metabolic syndromeFUT8 Is a Critical Driver of Prostate Tumour Growth and Can Be Targeted Using Fucosylation Inhibitors.
Cancer medicineGALNT14 deficiency: connecting multiple links in the IgA nephropathy pathogenetic chain.
The Journal of clinical investigationMechanisms of action of Fucus vesiculosus-derived fucoidan on improving dyslipidemia in New Zealand rabbits fed a high-fat diet.
International journal of biological macromoleculesER stress disrupts insulin release in murine models of type 2 diabetes by impairing retromer action and constitutive secretion.
Cell reportsIrisin restrains neuroinflammation in mouse experimental autoimmune encephalomyelitis via regulating microglia activation.
Frontiers in pharmacologyComplex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.
CellsFurther elucidation of GMPPB as a risk gene for depression through integrative multi-omics analyses.
Journal of affective disordersEvolution and adaptation of dengue virus in response to high-temperature passaging in mosquito cells.
Virus evolutionɑ1,3-mannosyltransferase promotes the malignant progression of bladder cancer through activating TNF signaling pathway.
European journal of medical researchAminooxy Biotin-Based Characterization of the Surfaceome of Chondrogenic Cells.
Methods in molecular biology (Clifton, N.J.)Associations of Skin Autofluorescence with Diabetic Kidney Disease in Type 2 Diabetes.
BiomedicinesElevated Fab glycosylation of autoantibodies maintained during B cell depletion therapy.
Scientific reportsNeuroprotective roles of SGLT2 and DPP4 inhibitors: Modulating ketone metabolism and suppressing NLRP3 inflammasome in T2D induced Alzheimer's disease.
Experimental neurologyReal-world clinical utility of a multi-protein, blood-based biomarker assay for disease activity assessments in multiple sclerosis.
Multiple sclerosis journal - experimental, translational and clinicalTreatment of acute myeloid leukemia models by targeting a cell surface RNA-binding protein.
Nature biotechnologyCharacteristics of type 2 diabetes patients with overt cardiovascular diseases in Malaysia: the real-world evidence from the National Diabetes Registry.
BMC research notesGlycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW.
Pediatric neurologyPrevalence and determinants of erectile dysfunction among male type 2 diabetes mellitus patients with chronic kidney disease: a cross-sectional study.
Translational andrology and urologyNew insights into phytochemicals via protein glycosylation focused on aging and diabetes.
Phytomedicine : international journal of phytotherapy and phytopharmacologyLGALS3BP antibody-drug conjugate enhances tumor-infiltrating lymphocytes and synergizes with immunotherapy to restrain neuroblastoma growth.
Journal of translational medicineCOG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.
Molecular genetics & genomic medicineDiagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience.
Journal of clinical research in pediatric endocrinologyDeciphering N-Glycosylation Dynamics of Serum Monoclonal Immunoglobulins in Multiple Myeloma via EThcD-sceHCD-MS/MS.
Journal of proteome researchIntegration of RNAseq transcriptomics and N-glycomics reveal biosynthetic pathways and predict structure-specific N-glycan expression.
Chemical scienceLysyl hydroxylase 2 glucosylates collagen VI to drive lung cancer progression.
The Journal of clinical investigationThe Inner Nuclear Layer in Pediatric Multiple Sclerosis.
Neurology(R) neuroimmunology & neuroinflammationMulti-omic biomarkers associated with multiple sclerosis: from Mendelian randomization to drug prediction.
Scientific reportsDeciphering distinct spatial alterations in N-glycan expression profiles in the spinal cord and brain of male rats in a neuropathic pain model.
Cellular & molecular biology lettersTowards a Universal Translator: Decoding the PTMs That Regulate Orthoflavivirus Infection.
VirusesHigh-Density Lipoprotein in Patients with Diabetic Kidney Disease: Friend or Foe?
International journal of molecular sciencesExploring the relationship between sepsis and Golgi apparatus dysfunction: bioinformatics insights and diagnostic marker discovery.
Frontiers in geneticsSynergistic effects of mutation and glycosylation on disease progression.
Frontiers in molecular biosciencesMass Spectrometry-Based Proteomics in Clinical Diagnosis of Amyloidosis and Multiple Myeloma: A Review (2012-2024).
Journal of mass spectrometry : JMSSerum Ferritin Levels in Pregnancy and Their Association with Gestational Diabetes Mellitus: A Prospective Longitudinal Study.
Diabetes, metabolic syndrome and obesity : targets and therapyNeurite orientation dispersion and density imaging in myelin oligodendrocyte glycoprotein antibody-associated disease and neuromyelitis optica spectrum disorders.
Multiple sclerosis and related disordersBiochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine : official journal of the American College of Medical GeneticsInhibition of high glucose-induced cardiac fibroblast activation: an effective treatment for diabetic cardiomyopathy using Chinese herbal medicine.
Frontiers in pharmacologyO-GlcNAc modification differentially regulates microtubule binding and pathological conformations of tau isoforms in vitro.
The Journal of biological chemistryArv1; a "Mover and Shaker" of Subcellular Lipids.
Contact (Thousand Oaks (Ventura County, Calif.))Phylogenetic and molecular analysis of hemagglutinin gene and Fsp-coding region of canine distemper virus: Insight into novel vaccine development.
Comparative immunology, microbiology and infectious diseasesFunctional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants.
Clinical geneticsElevated Fasting C-Peptide Levels Correlate with Increased 10-Year Risk of Atherosclerotic Cardiovascular Disease in Newly Diagnosed Type 2 Diabetes Patients.
Diabetes, metabolic syndrome and obesity : targets and therapyAssessing the role of Berberine as an inhibitor of advanced glycation end products (AGEs) formation using in vitro and molecular interaction studies.
Archives of biochemistry and biophysicsThe effects of regular exercise on cognitive and cardiometabolic health in testicular cancer survivors subjected to platinum-based chemotherapy.
AndrologyGlycan profiling of multiple sclerosis oligoclonal bands with MALDI-TOF.
Analytical methods : advancing methods and applicationsAldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.
Journal of inherited metabolic diseaseNovel mTORC2/HSPB4 Interaction: Role and Regulation of HSPB4 T148 Phosphorylation.
CellsA quantitative multi-parameter mapping protocol standardized for clinical research in multiple sclerosis.
Scientific reportsDefective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.
Life science allianceThe evolution of hemagglutinin-158 and neuraminidase-88 glycosylation sites modulates antigenicity and pathogenicity of clade 2.3.2.1 H5N1 avian influenza viruses.
Veterinary microbiologyCHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.
American journal of medical genetics. Part ASLC41A1 overexpression correlates with immune cell infiltration in HCC and promotes its malignant progression.
International journal of medical sciencesInterpretable time-series neural turing machine for prognostic prediction of patients with type 2 diabetes in physician-pharmacist collaborative clinics.
International journal of medical informaticsNeuroinflammation and glycosylation-related cerebrospinal fluid proteins for predicting functional decline in amyotrophic lateral sclerosis: a proteomic study.
Frontiers in neurologyThe role of protein O-GlcNAcylation in diabetic cardiomyopathy.
Biochemical Society transactionsTowards Understanding the Role of the Glycosylation of Proteins Present in Extracellular Vesicles in Urinary Tract Diseases: Contributions to Cancer and Beyond.
Molecules (Basel, Switzerland)Predicting Structural Consequences of Antibody Light Chain N-Glycosylation in AL Amyloidosis.
Pharmaceuticals (Basel, Switzerland)Molecular characterization of human respiratory syncytial virus strains circulating among hospitalized children in Jordan.
BMC infectious diseasesSingle-cell transcriptome analysis identifies subclusters and signature with N-glycosylation in endometrial cancer.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoImmunoglobulin A Antibodies: From Protection to Harmful Roles.
Immunological reviewsTime-course RNA sequencing reveals high similarity in mRNAome between hepatic stellate cells activated by agalactosyl IgG and TGF-β1.
Functional & integrative genomicsCausality of Blood Metabolites on Proliferative Diabetic Retinopathy: Insights From a Genetic Perspective.
Journal of diabetes researchAltered Spike Immunoglobulin G Fc N-Linked Glycans Are Associated With Hyperinflammatory State in Adult Coronavirus Disease 2019 and Multisystem Inflammatory Syndrome in Children.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Exogenous photoreceptor-specific N-glycosylated PROM1 rescues retinal degeneration in patient and mouse models.Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 41764073mais citado
- Evolutionary lineage and host origin influence virulence and mammalian adaptation of H7N9 avian influenza viruses.
- Siamese Twins: The Multimodular Mechanisms of Golgi Maturation and Glycan Synthesis Are Coupled at Their Core.
- GARP Complex in Golgi Physiology.
- CSF-Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery.
- Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.
- Real-time breath metabolomics as catalyst for personalized lung cancer diagnostics: prospective matched case-control trial (LUCAbreath).
- The mutational burden in os odontoideum patients.
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.
- Clinical characteristics and long-term prognosis of anti-MDA5-positive dermatomyositis: a comparative study across age groups.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:309526(Orphanet)
- MONDO:0017749(MONDO)
- GARD:21343(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787325(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
