Leite é uma secreção nutritiva de cor esbranquiçada e opaca produzida pelas glândulas mamárias das fêmeas dos mamíferos.
Introdução
O que você precisa saber de cara
Doença rara do transporte membranar mitocondrial, caracterizada por hepatoesplenomegalia, distrofia corneana e déficit de crescimento. Apresenta morfologia mitocondrial anormal, desconforto respiratório e insuficiência cardíaca congestiva de baixo débito.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 39 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 107 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
7 genes identificados com associação a esta condição.
Inorganic ion transporter that transports phosphate or copper ions across the mitochondrial inner membrane into the matrix compartment (By similarity) (PubMed:17273968, PubMed:29237729). Mediates proton-coupled symport of phosphate ions necessary for mitochondrial oxidative phosphorylation of ADP to ATP (By similarity) (PubMed:17273968). Transports copper ions probably in the form of anionic copper(I) complexes to maintain mitochondrial matrix copper pool and to supply copper for cytochrome C ox
Mitochondrion inner membrane
Mitochondrial phosphate carrier deficiency
An autosomal recessive disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life.
Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response (PubMed:17600090)
Triokinase and FMN cyclase deficiency syndrome
An autosomal recessive disease characterized by cataracts and developmental delay that may be associated with cerebellar hypoplasia. Additional features may include liver dysfunction, microcytic anemia, and fatal cardiomyopathy with lactic acidosis following a febrile illness.
ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (PubMed:21586654, PubMed:27693233, PubMed:23173940, PubMed:30046662). Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane (By si
Mitochondrion inner membraneMembrane
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex m
Mitochondrion inner membraneMitochondrion intermembrane space
Mitochondrial DNA depletion syndrome 10
An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy.
Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:20364084, PubMed:23615440). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosynthesis machinery, or export from mitochondrion (PubMed:20364084, PubMed:23615440, PubMed:24334290). Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084)
Mitochondrion matrix
Anemia, sideroblastic, 3, pyridoxine-refractory
A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive.
Mitochondrial S-adenosyl-L-methionine/S-adenosyl-L-homocysteine antiporter. Mediates the exchange of cytosolic S-adenosyl-L-methionine, the predominant methyl-group donor for macromolecule methylation processes, for mitochondrial S-adenosylhomocysteine(SAH), a by-product of methylation reactions
Mitochondrion inner membrane
Combined oxidative phosphorylation deficiency 28
An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death.
Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:19641205, PubMed:24515575, PubMed:38945283). Also mediates the uptake of L-cysteinesulfinate (3-sulfino-L-alanine) by mitochondria in exchange of L-glutamate and proton (PubMed:11566871). Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton trans
Mitochondrion inner membrane
Developmental and epileptic encephalopathy 39 with leukodystrophy
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive.
Variantes genéticas (ClinVar)
195 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
18 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 — Doença do transporte membranar mitocondrial
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Publicações mais relevantes
Mitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis.
Mitochondria are a key organelle in maintaining metabolic homeostasis. It not only generates most of the cell's energy through oxidative phosphorylation but also acts as a complex sensor of the redox state and oxygen in the cell. This review thoroughly analyzes the interactions among mitochondrial iron metabolism, mitochondrial reactive oxygen species (mtROS), and lipid peroxidation (LPO), the triggering factors of ferroptosis, an iron-dependent form of programmed cell death. We point out research showing that intrinsic mitochondrial machinery, such as iron-sulfur (Fe-S) cluster assembly and heme metabolism, is both an important cofactor and a master regulator. If these processes are disrupted, they can lead to ferroptosis. Unlike views that focus on the cytosol, we explain that the stability of Fe-S clusters in complexes such as aconitase and respiratory Complex I is crucial for preventing electron leakage and excessive mtROS formation. The Fenton reaction and its direct effect on cardiolipin (CL) oxidation in the inner membrane of mitochondria is a central event in cardiometabolic diseases. Its peroxidation and breakdown make the organelle very unstable and lead to cell death though Ca2+ overload and a significantly decreased reduced/oxidized glutathione ratio. Additionally, the functions of essential iron transporters and glutathione homeostasis are examined, and their dysregulation is correlated with ferroptosis-associated progression of cardiometabolic and neurodegenerative disorders, such as obesity and Alzheimer's disease. This review focused on the need to revisit the classic bioenergetic core of the mitochondria as a key player in the pathophysiology of metabolic and neurodegenerative diseases.
The genetic architecture of postoperative delirium after major surgery and its relationship with nonpostoperative neurocognitive conditions: A genome-wide association study.
Postoperative delirium is the most common postoperative complication in older individuals. Genome-wide association studies (GWAS) can provide insights into how genetic factors influence postoperative risk. We examined the genetic architecture of postoperative delirium after major surgery and its relationship with related cognitive conditions (delirium of any type and Alzheimer's disease, including the APOE ε4 allele). A case-control GWAS was performed in the UK Biobank to identify genetic variants associated with postoperative delirium, adjusted for age, sex, genetic chip, and the first 10 principal components. These results were then used in genetic correlation and polygenic risk score analyses to investigate shared genetic risk between postoperative delirium and a) delirium of all causes, and b) Alzheimer's disease. The GWAS (1,016 cases, 139,148 controls) identified seven Single Nucleotide Polymorphisms (SNPs) that mapped to four genes (APOE, TOMM40, APOC1, and PVRL2); p < 5 x 10-8. Five SNPs remained significant after excluding pre-existing dementia, and two after excluding subsequent dementia. The lead SNP was rs429358, a missense variant of APOE. Genetic correlation and polygenic risk score analyses revealed evidence of shared genetic architecture and risk between postoperative delirium and Alzheimer's disease (rho 0.68, 95% CI [0.46, 0.81]; p < 0.001). After adjustment for age and sex, the APOE ε4 isoform had a dose-response effect on risk (odds ratios for one and two copies: 1.75, 95% CI [1.53, 2.0], and 4.19, 95% CI [3.25, 5.41], respectively; p < 0.001). The main limitations of the study include the reliance upon clinical coding for outcome definition and limited statistical power to detect small or modest genetic effects. We identified genetic variants associated with increased risk of postoperative delirium. We also found evidence of shared genetic liability with Alzheimer's disease via APOE, complementing recent large-scale studies in all-cause delirium. If validated, the findings have potential clinical applications, including preoperative risk stratification and early identification of pre-clinical Alzheimer's disease risk.
ITPR2 Promotes Acute Myeloid Leukemia Progression Through Calcium-Mediated Mitochondrial Dysfunction.
Acute myeloid leukemia (AML) is a hematological malignancy of the myeloid lineage with poor clinical outcomes due to limited targeted therapies. This study elucidates the role of inositol 1,4,5-trisphosphate receptor type 2 (ITPR2) in regulating cell apoptosis by modulating mitochondrial calcium (Ca2+) levels and underscores the clinical significance of ITPR2. ITPR2 expression in patients with AML compared with that of healthy controls using the quantitative real-time PCR (RT-qPCR) method. The role of ITPR2 in AML and its association with immune infiltration levels were investigated through bioinformatics analyses. ITPR2 knockdown in Tohoku Hospital Pediatrics-1 (THP-1) cells were achieved using small interfering RNA (siRNA) and 2-aminoethyl diphenylborinate (2-APB), followed by comprehensive molecular characterization employing RT-qPCR, western blotting (WB), cell counting kit-8 (CCK-8) assays, and flow cytometry. ITPR2 was validated as being highly expressed in patients with AML, and this expression correlated with risk stratification and poor prognosis. Functional enrichment analysis revealed that ITPR2 is involved in Ca2+ signaling pathways and mitochondrial-related biological processes, and its expression level was negatively correlated with immune infiltration levels. Knockdown of ITPR2 or inhibition of its activity with 2-APB reduced Ca2+ ion concentrations in both the cytoplasm and mitochondria, leading to mitochondrial dysfunction (characterized by elevated intracellular reactive oxygen species (ROS) levels, reduced mitochondrial membrane potential (MMP) levels, and reduced mitochondrial DNA copy number) and eventually AML cell apoptosis. ITPR2 facilitates AML progression via the Ca2+-mitochondrial axis and may serve as a prognostic factor and potential therapeutic target.
A Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.
Familial partial lipodystrophy type 3 (FPLD3) is a rare autosomal dominant disorder caused by mutations in peroxisome proliferator-activated receptor gamma(PPARG), which encodes the key adipogenic transcription factor peroxisome proliferator-activated receptor gamma(PPARγ). Clinical diagnosis is challenging due to phenotypic overlap with common metabolic syndromes. We identified a novel PPARG variant in a Chinese family and performed comprehensive functional characterization to elucidate its pathogenic mechanism. The proband, a 15-year-old boy presenting with atypical fat distribution, severe insulin resistance, hypertriglyceridemia, and pancreatitis, underwent clinical evaluation and whole-exome sequencing. The identified variant was confirmed by Sanger sequencing. Its functional impact was assessed through in silico modeling, luciferase reporter assays, protein stability analysis (cycloheximide chase), and evaluation of mitochondrial function (JC-1 staining) and adipocyte gene expression in cellular models. A heterozygous PPARG c.634C>T (p.Arg212Trp, R212W) variant was identified and segregated with the phenotype. Functional studies revealed that the R212W mutant exhibits a partial loss of transcriptional activity (~40% of wild-type) while retaining ligand sensitivity. Crucially, we demonstrated that the mutant protein has significantly reduced stability due to accelerated degradation. In adipocyte models, R212W expression led to impaired mitochondrial membrane potential, depleted cellular ATP levels, and downregulated expression of key metabolic genes (glucose transporter 4[GLUT4], adiponectin[ADIPOQ], fatty acid binding protein 4[FABP4], lipoprotein lipase[LPL], perilipin 1[PLIN1]). These functional deficits were partially rescued by treatment with the PPARγ agonist rosiglitazone. We report a novel pathogenic PPARG R212W variant associated with FPLD3. Our data extend beyond a simple loss-of-function model by establishing a multi-faceted pathogenic mechanism involving protein destabilization, mitochondrial dysfunction, and cellular bioenergetic failure. The partial rescue by rosiglitazone suggests a potential therapeutic avenue. This study underscores the importance of integrating clinical phenotyping with deep functional analysis to diagnose and understand rare monogenic lipodystrophies.
Mitochondrial acid-sensing ion channel 1a deficiency induces mitochondrial dysfunction in pulmonary arterial smooth muscle cells.
Pulmonary hypertension (PH) is a progressive vascular disease driven by pulmonary arterial remodeling, characterized by cellular hyperproliferation, resistance to apoptosis, and phenotypic plasticity. Our laboratory has shown that the proton-gated cation channel, acid-sensing ion channel 1a (ASIC1a), is essential for the development of chronic hypoxia (CH)-induced PH in rodents. Importantly, ASIC1a activation occurs without changes in total ASIC1a levels but reflects a hypoxia-dependent redistribution to the plasma membrane in pulmonary arterial smooth muscle cells (PASMCs). In neurons, mitochondrial-localized ASIC1a (mtASIC1a) contributes to oxidative stress-induced mitochondrial membrane potential (ΔΨm) depolarization and apoptosis. Although mtASIC1a has not been described in vascular cells, its role in PASMCs may be relevant to mitochondrial dysfunction and apoptosis resistance in PH. We hypothesize that mtASIC1a is a crucial regulator of PASMC mitochondrial homeostasis, and its loss following CH promotes mitochondrial dysfunction and apoptosis resistance. Consistent with this, mtASIC1a localization was decreased in PASMCs and intrapulmonary arteries from CH rats compared with controls. Functionally, PASMCs from CH rats or Asic1a knockout mice exhibited ΔΨm hyperpolarization, elevated mitochondrial Ca2+ and superoxide, impaired mitophagy, and reduced cleaved caspase-3. Transmission electron microscopy revealed mitochondrial morphological changes, including increased size and circularity, decreased aspect ratio, and reduced mitochondrial number per cell, whereas fusion/fission proteins remained largely unchanged. Lentiviral restoration of mtASIC1a prevented ΔΨm hyperpolarization and restored caspase-3 cleavage. These findings identify mtASIC1a as a novel regulator of mitochondrial function in PASMCs, where its loss following CH promotes ΔΨm hyperpolarization, impaired mitophagy, and resistance to apoptosis.NEW & NOTEWORTHY This study identifies mitochondrial acid-sensing ion channel 1a (mtASIC1a) as a novel regulator of mitochondrial homeostasis in pulmonary arterial smooth muscle cells (PASMCs). Critically, mtASIC1a deficiency in PASMCs following in vivo chronic hypoxia or genetic deletion promotes mitochondrial membrane potential (ΔΨm) hyperpolarization, Ca2+ and superoxide (O2-) accumulation, impaired mitophagy, and caspase inhibition. Restoring mtASIC1a by lentiviral transduction prevents ΔΨm hyperpolarization and restores caspase cleavage, highlighting its importance in mitochondrial signaling and hypoxic pulmonary hypertension pathophysiology.
Publicações recentes
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The depletion of TFAM and p-β-catenin(S552) in mitochondria in response to BoAHV-1 productive infection leads to decreased mitochondrial biogenesis.
SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane.
Screening mitochondria-related biomarkers in skin and plasma of atopic dermatitis patients by bioinformatics analysis and machine learning.
Pathological Sequelae Associated with Skeletal Muscle Atrophy and Histopathology in G93A*SOD1 Mice.
📚 EuropePMCmostrando 200
Prevalence of Molecular Subtypes of Gastric Cancer in Taiwan and the Impact of High SLC25A22 Expression on Survival: A Single-Center Experience.
Molecular carcinogenesisMitochondrial dysfunction and programmed cell death in Alzheimer's disease: A retrospective bioinformatics study.
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Journal of neurophysiologyThe VPS35 protein and the role of its impairments in mitochondrial dysfunction in Parkinson's disease.
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PLoS medicineN-acetyl-l-leucine lowers α-synuclein levels and improves synaptic function in Parkinson's disease models.
The Journal of clinical investigationRNA-seq analysis reveals altered gene expression profiles in HMEC-1 cells overexpressing KRAS gene associated with brain arteriovenous malformation.
Chinese neurosurgical journalITPR2 Promotes Acute Myeloid Leukemia Progression Through Calcium-Mediated Mitochondrial Dysfunction.
Frontiers in bioscience (Landmark edition)Lithium chloride suppresses ferroptosis of induced pluripotent stem cells with ApoE4/E4 from a sporadic Alzheimer's disease patient.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsA Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.
International journal of molecular sciencesUnraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.
BiomoleculesMitochondrial acid-sensing ion channel 1a deficiency induces mitochondrial dysfunction in pulmonary arterial smooth muscle cells.
American journal of physiology. Lung cellular and molecular physiologyTargeting VDAC1-dependent mtDNA release attenuates fibroblast innate immune activation and vitiligo pathogenesis.
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Nature microbiologyALDH2 activation protects against mutant TOMM40-mediated mitochondrial dysfunction and neurodegeneration in Alzheimer's disease.
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Cancer lettersFerrostatin-1 attenuates sepsis-induced lung injury by inhibiting ferroptosis via activation of the SLC7A11/GSH/GPX4 signaling pathway.
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eLifeTaurochenodeoxycholic Acid Activates Calcium Signaling to Protect Against Fuchs' Endothelial Corneal Dystrophy.
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International journal of molecular sciencesCystinosis and Cellular Energy Failure: Mitochondria at the Crossroads.
International journal of molecular sciencesCholine Deficiency Drives the Inflammation-Fibrosis Cascade: A Spatiotemporal Atlas of Hepatic Injury from Weeks 6 to 10.
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Computational biology and chemistryBlood Flow Regulates Metabolism in Hematopoietic Development.
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Biochemical and biophysical research communicationsImpact of Toll/Interleukin-1 Receptor Domain Protein C on Mesenchymal Stem Cells Mitochondrial Protein Expression: A Proteomic Study.
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Cell communication and signaling : CCSMETTL16-m6A-PGC-1α axis contributes to exercise-induced mitochondrial adaptations in skeletal muscle of high-fat diet-fed insulin-resistant mice.
BMC biologyImmunohistochemical Analysis of Tom20 in Choroid Plexus Epithelial Cells From Elderly Brains With Neurodegenerative Diseases.
Neuropathology : official journal of the Japanese Society of NeuropathologyVPS13A Deficiency Leads to Impaired Lipid Distribution and Alteration of Mitochondrial Calcium Homeostasis in Fibroblasts of VPS13A Disease Patients.
Movement disorders : official journal of the Movement Disorder SocietyThe role of gasdermin-mediated mitochondrial RNA release in amplifying secondary immune response during microbial infection.
Frontiers in immunologyA small molecule VDAC ligand inhibits ERAD and induces selective cancer cell death via disruption of calcium homeostasis.
Nature communicationsSignaling architecture of the glucagon-like peptide-1 receptor.
The Journal of clinical investigationTmem110 regulates the conformation of TRPML1 to maintain endolysosomal homeostasis and prevent mitochondrial DNA leakage and pathological self-DNA processing.
Nature communicationsMitochondrial DNA 6 mA methylation by METTL4 drives neuroinflammation via cGAS-STING activation in vascular cognitive impairment.
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International journal of biological sciencesNon-surgical periodontal treatment improves mitochondrial bioenergetics in circulating immune cells of patients with chronic periodontitis.
Free radical biology & medicineClonidine compromises human sperm functions.
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International journal of molecular sciences[Research advances in key mitochondrial injury targets and mechanisms of traditional Chinese medicine intervention in ischemic stroke].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaNeuroprotective effect of Saikogenin F on corticosterone-induced cytotoxicity in PC12 cells involves P2X7R-NLRP3 and cAMP-PKA pathways.
In vitro cellular & developmental biology. AnimalMüller Glial Kir4.1 Channel Dysfunction in APOE4-KI Model of Alzheimer's Disease.
GliaEndothelial mitochondrial dysfunction in hypertension, diabetes, and atherosclerosis.
Cardiovascular researchThe ion transport, GPCR, and RTK toolkit expression in the human cerebrovascular endothelial cell line, hCMEC/D3: an Omics perspective.
Frontiers in physiologyElevated cerebrospinal fluid 2-Hydroxybutyric acid in two siblings with aspartate-glutamate carrier 1 deficiency.
Molecular genetics and metabolismGinsenoside-based nanoliposomes co-delivering ergothioneine and coenzyme Q10 to combat skin aging via mitochondrial modulation.
Colloids and surfaces. B, BiointerfacesPridopidine, a Potent and Selective Therapeutic Sigma-1 Receptor (S1R) Agonist for Treating Neurodegenerative Diseases.
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Animal models and experimental medicineMitochondria-associated endoplasmic reticulum membranes and calcium ion exchange: A novel direction for aging and neurodegenerative diseases.
Neural regeneration researchTrigger points of palliative care assessment in inherited metabolic diseases.
Orphanet journal of rare diseasesCanagliflozin Promotes Structural and Functional Changes in Proximal Tubular Cell Mitochondria of Hypertensive-Diabetic Mice.
International journal of molecular sciencesThe Diagnostic Reliability of BIN1 and TOMM40 Genotyping in Assessing Dementia Risk.
GenesGrowth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.
The American journal of case reports[PNPLA3 gene I148M polymorphism induces hepatic fibrosis via cholesterol metabolic dysregulation in mice].
Sheng wu gong cheng xue bao = Chinese journal of biotechnologyTMAO converts cytochrome c into a pro-apoptotic peroxidase by destabilizing the heme-Met80 ligation.
Cellular and molecular biology (Noisy-le-Grand, France)Synuclein and Mitochondrial Dysfunction: Regulating the Protein Import Complex toward PD Treatment?
ACS chemical neuroscienceInhibin beta A drives colorectal cancer progression through macrophage M2 polarization and mitochondria-dependent ferroptosis suppression.
Signal transduction and targeted therapyMultiomics Integration Reveals a Metabolic Myopathy in Cardiometabolic HFpEF.
bioRxiv : the preprint server for biology[Exploring the potential causes of sarcopenia in sepsis patients based on proteome sequencing].
Zhonghua wei zhong bing ji jiu yi xueMitochondrial DNA release via mPTP and BAX/BAK drives inflammatory injury in intestinal ischemia reperfusion.
Cell communication and signaling : CCSLRRC8A Mediates Ischemic Neuronal Injury by Potentiating NMDA Receptor Activity and Activating Mitochondrial Apoptotic Pathway.
Cell biology internationalBeyond oxidative stress: Ferroptosis as a novel orchestrator in neurodegenerative disorders.
Frontiers in immunologySynaptotagmin-7 drives stress-induced cardiomyocyte necroptosis via the p53-Bak-mPTP axis.
TheranosticsVDAC1: at the crossroads of cancer signalling and metabolism.
Expert review of proteomicsBiallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration.
MitochondrionHypoxic Mesenchymal Stem Cell Exosome-Derived SLC25A3 Ameliorates Bronchopulmonary Dysplasia by Modulating Macrophage Polarization and Oxidative Stress.
Cell biochemistry and functionGRP75 blocks hepatitis E virus infection by targeting HEV-ORF2 for degradation through chaperone-mediated autophagy and promoting IRF3 activation.
Journal of virologyHv1 inhibition rescues AD pathology by restoring microglial mitochondrial function and enhancing mitochondrial transfer.
Experimental & molecular medicineVPS13B recruits lipid vesicles to promote mitochondrial fission and quality control.
Nature communicationsInvestigating Mitochondrial Viscosity in Ferroptosis-Mediated Drug-Induced Liver Injury using a Double-Targeted Strategy.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)α7 Nicotinic acetylcholine receptor activation rescues mitochondrial dysfunction in gestational diabetes mellitus by competing with p66Shc for VDAC1 binding.
DiabetologiaRHOA regulates mitochondria-ER contact sites through modulation of the VAPB/PTPIP51 tether.
Nature communicationsTime-specific perturbation of the serotonergic system differentially modulates the transcriptional landscape of hippocampal subregions in female rats.
Biochemical pharmacologySmall Extracellular Vesicles From Human Amniotic Membrane Mesenchymal Stem Cells Rejuvenate Senescent β Cells and Cure Age-Related Diabetes in Mice.
Aging cellEngineered extracellular vesicles-mediated curcumin delivery in brain microenvironment modulating lysosomes, mitochondria, and microglia reprogram for parkinson's disease therapy.
Journal of nanobiotechnologyAssessment of SLC25A46 variants in idiopathic Parkinson's disease.
Parkinsonism & related disordersHyperbaric oxygen targets RCN1 to modulate ER-mitochondria crosstalk and ameliorate sorafenib resistance in hepatocellular carcinoma.
Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapyExtracellular Vesicles from iPSC-Derived Glial Progenitor Cells Prevent Glutamate-Induced Excitotoxicity by Stabilising Calcium Oscillations and Mitochondrial Depolarisation.
CellsThe role of mitochondrial-associated endoplasmic reticulum membranes (MAMs) in diabetic microvascular complications: a review.
Cell death & diseaseRationally engineered cyclodextrins: smart shuttles for neurological drug targeting and BBB modulation.
Bioorganic chemistryATG9A-PLA2G6 axis reprograms phospholipid metabolism to drive metabolic liver disease and hepatocellular carcinoma.
AutophagyThree mammalian VDAC isoforms distinctly regulate mitochondrial function and proteome to maintain cell metabolism.
The Journal of biological chemistryTRIP13 alters mitochondrial function and promotes bortezomib resistance in multiple myeloma.
Scientific reportsStructural transport and inhibition mechanism of the mitochondrial pyruvate carrier.
Trends in biochemical sciencesStress at the gates: Mitochondrial import dysfunctions, response pathways, and therapeutic potential.
MitochondrionThe role of FIS1 and its post-translational modifications in diseases and health damage caused by environmental pollution.
Cell biology and toxicologyMechanisms and treatment modalities related to premature ovarian insufficiency in mitochondria: literature review.
Journal of ovarian researchABCC9 knockdown attenuates isoproterenol‑induced myocardial hypertrophy by inhibiting the PI3K/AKT signaling pathway.
Molecular medicine reportsMitochondria-targeted gene delivery using fluorinated lipid nanoparticles to alleviate Leber's hereditary optic neuropathy.
Nature communicationsMitochondria in pyroptosis: Mechanisms and implications.
Molecular immunologyVacuolar-type H+-ATPase-mediated extra-organellar buffering resolves mitochondrial dysfunction.
Nature communicationsTranscriptome-Wide N7-Methylguanosine (m7G) Map Profiling Reveals the Regulatory Role of m7G in Atherosclerosis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyIntegrated multi-omics and machine learning elucidate the pathogenic role of mitophagy in osteoarthritis and identify novel therapeutic strategies.
International immunopharmacologyEnhanced S-Palmitoylated Protein Detection by Mild Nonionic Detergent in Proteomic Workflow.
Journal of the American Society for Mass SpectrometryCeftriaxone alleviates mitochondrial damage through the inhibition of extrasynaptic NMDA receptor-mediated changes in intracellular calcium levels to improve cognitive deficits in APP/PS1 mice.
Alzheimer's research & therapyDisruption of the PIKfyve complex unveils an adaptive mechanism to promote lysosomal repair and mitochondrial homeostasis.
Nature communicationsMembrane Trafficking in Psychiatric Disorders: Bridging Cellular Dysfunction and Mental Health-A Narrative Review.
Molecular neurobiologyGlutathione and TRPM2 Inhibition Reduce Amyloid-Beta and Lipopolysaccharide-Induced Apoptosis, Inflammation, and Oxidative Stress in Microglial Cells.
Cell biology internationalN-terminal α-amino SUMOylation promotes phosphorylation-independent cofilin-1 translocation to the mitochondrial matrix and induces apoptosis.
Nature communicationsAltered Co-Expression Patterns of Mitochondrial NADH-Dehydrogenase Genes in the Prefrontal Cortex of Rodent ADHD Models.
International journal of molecular sciencesTargeting TOMM40 and TOMM22 to Rescue Statin-Impaired Mitochondrial Function, Dynamics, and Mitophagy in Skeletal Myotubes.
International journal of molecular sciencesCISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.
Acta neuropathologica communicationsNaringenin alleviates endotoxin-induced acute kidney injury in chicken by inhibiting pyroptosis through PINK1-dependent mitophagy.
Phytomedicine : international journal of phytotherapy and phytopharmacologySodA promotes immune evasion of Streptococcus suis by suppressing ROS accumulation and GSDMD-mediated mitochondrial disruption in neutrophils.
Microbiology spectrumLoss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport.
Journal of human geneticsRegulation of mitochondrial dynamics and function by melatonin type 1 receptor in parkinson's disease.
Cellular and molecular life sciences : CMLSAltered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.
Archives of biochemistry and biophysicsIdentification of Novel Kv1.3 Channel-Interacting Proteins Using Proximity Labelling in T-Cells.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacologyMitochondrial protein TOMM7 alleviates diabetic kidney disease by regulating mitophagy via intracellular redistribution of phospholipase PLA2G6.
Kidney internationalSirtuin downregulation mediates mitochondrial impairment causing cognitive decline in hepatic encephalopathy.
Free radical biology & medicineMICU2 controls mitochondrial calcium signaling and migration in neurons during development.
Cell reportsMechanistic study of the cytotoxicity of cannabidiol and its metabolites in HepG2 cells.
Archives of toxicologyA unified mechanism for mitochondrial damage sensing in PINK1-Parkin-mediated mitophagy.
The EMBO journalThe dynamic lateral gate of the mitochondrial β-barrel biogenesis machinery is blocked by darobactin A.
Nature communicationsSphingosine-1-phosphate activates ICl,swell in ventricular myocytes via mitochondrial reactive oxygen production.
Journal of molecular and cellular cardiologyOxidative modification of G-quadruplex triggers CLIC4-associated mitochondrial dysfunction to promote glioblastoma progression.
Redox biologyElamipretide: The first cardiolipin-directed mitochondrial therapeutic for Barth syndrome approved under accelerated approval.
Drug discoveries & therapeuticsPathogenic KIF5C mutation disrupts dendritic spine maturation and mitochondrial trafficking in neurodevelopmental disorders.
Neurobiology of diseaseFailure of lysosomal acidification and endomembrane network in neurodegeneration.
Experimental & molecular medicineSodium hexametaphosphate mitigates calcium oxalate stone formation by modulating crystallization and maintaining PPARα signaling.
UrolithiasisAmyloid-beta glycation induces neuronal mitochondrial dysfunction and Alzheimer's pathogenesis via VDAC1-dependent mtDNA efflux.
Proceedings of the National Academy of Sciences of the United States of AmericaThe sigma-1 receptor as a neurohomeostatic decision hub for GABARAP-mediated receptor trafficking and macroautophagy.
Frontiers in molecular biosciencesMitochondrial cristae remodeling: Mechanisms, functions, and pathology.
Cell insightElucidating the Localization and Interactome of Mitochondrial Microproteins.
Methods in molecular biology (Clifton, N.J.)Mitochondrial Calcium Channels and MAM Interaction in Calcium Homeostasis Dysregulation in Parkinson's Disease.
Neurochemical researchMPTP mediated Ox-mtDNA release inducing macrophage pyroptosis and exacerbating MCD-induced MASH via promoting the ITPR3/Ca2+/NLRP3 pathway.
Journal of translational medicineGlycerol-3-phosphate activates ChREBP, FGF21 transcription and lipogenesis in citrin deficiency.
Nature metabolismThe transcription factor HAND1 suppresses endometrial cancer progression by regulating fatty acid β-oxidation via c-MET.
International journal of biological macromoleculesGlutaredoxin 2 is essential for AML survival through mitochondrial permeability transition pore regulation.
BloodMultisite, Multiancestry Genome-Wide Association Study Meta-Analysis of Functional Seizure Disorder in a Hospital Sample of 675,680 Patients.
Biological psychiatry global open scienceThe roles of glycerophospholipids in the aging retina and age-related macular degeneration.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieMitochondrial Metabolic Reprogramming of Cortical Neurons by Prenatal Exposure to Corticosterone: A Shift from ATP Synthesis to Membrane Potential Maintenance.
Experimental neurobiologyPotent Preorganized Pyrazolidine Cyclophilin D Inhibitors Prevent Mitochondrial and Organ Injury in a Mouse Pancreatitis Disease Model.
Journal of medicinal chemistryProtein-Mediated Virulence in Mycobacterium tuberculosis.
Advances in experimental medicine and biologyCinchona-based liquid formulation exhibits antifungal activity through Tryptophan starvation and disruption of mitochondrial respiration in Rhizoctonia Solani.
Scientific reportsDexmedetomidine protects against postoperative neurocognitive disorder by mitigating mitochondrial dysfunction through regulating the IP3R-GRP75-VDAC1 complex-mediated calcium transport.
Immunologic researchMembrane IL-18 identifies a human macrophage subset with distinct proteomic and functional traits.
OncoimmunologyImpaired cardiac non-neuronal acetylcholine synthesis triggers mitochondrial dysfunction with the loss of nicotinic receptor-mediated calcium handling, causing the failing heart.
Clinical science (London, England : 1979)A novel palmitoylation-based molecular signature reveals COX6A1 as a key regulator in metabolic dysfunction-associated steatotic liver disease.
Journal of translational medicineCell-type-specific dysregulation of mitochondrial calcium signaling in Alzheimer's disease.
Cell communication and signaling : CCSCytochrome c Oxidase Subunit 5A (COX5A) Enhances Gastric Cancer Progression by Augmenting ATP Synthesis and Activating the PI3K/Akt Pathway.
Journal of cellular and molecular medicineMitochondrial NOX4 drives atrial fibrillation via redox-dependent structural remodeling and fibrosis.
Free radical biology & medicinep53-mediated regulation of electron transport chain and nucleotide synthesis during Newcastle disease virus infection.
Journal of virologyEliosin-an alternative product from the HmPKD1 locus is a component of endoplasmic reticulum mitochondria membrane contact sites.
PloS oneEmpagliflozin-pretreated BMSC exosomes attenuate myocardial ischemia-reperfusion injury by enhancing atad3a/pink1-dependent mitophagy.
Stem cell research & therapyLongevity-promoting mitochondrial unfolded protein response activation requires elements of the PeBoW complex.
Genes & developmentLinking brain entropy to molecular and cellular architecture in psychosis.
NeuroImageMitochondrial Fragmentation Induced by the CFTR Modulators Lumacaftor and Ivacaftor in Immortalized Cystic Fibrosis Cell Lines.
CellsMPC-mediated lactate production drives histone lactylation in dendritic cells to affect tumor progression and immunotherapy.
Cellular and molecular life sciences : CMLSPleiotropic Actions of Gastrodia Elata Glucosides in the Treatment of Painful Neuropathies and CNS Disorders: Focus on Mitochondrial Dysfunction and Modulation of Ion Channels.
Current neuropharmacologyIndole-3-carbinol is an inhibitor of KV1.3 potassium voltage-gated channel activity in chronic lymphocytic leukemia cells.
European journal of pharmacologyHuman dental pulp stem cell-derived mitochondria restore mitochondrial function and promote neuroregeneration in a cellular model of Parkinson's disease.
Stem cell research & therapyIdentification and functional analysis of circular RNAs during mitochondrial damage induced by infectious bovine rhinotracheitis virus infection in Madin-Darby bovine kidney cells.
BMC genomicsTbTim20 facilitates protein import at a low membrane potential in trypanosomes lacking the mitochondrial genome.
The FEBS journalMitochondrial dysfunction, reactive oxygen species, and diabetes mellitus - A triangular relationship: A review.
Biomolecules & biomedicineIncreased Intermembrane Space [Ca2+] Drives Mitochondrial Structural Damage in CPVT.
Circulation researchFLVCR1 Deficiency Impairs Mitochondrial Homeostasis in Retinal Degeneration: Choline as a Potential Therapy.
Clinical & experimental ophthalmologyFrom loss of Ca2+-influx to altered organelle temperature and energy failure: A neonatal-lethal TRPV4 mutant (L618P).
Life sciencesUnlocking Neuroprotection: Simultaneous Suppression of Mitochondrial Energetic Collapse and Oxidative-Inflammatory Vortex for Ischemia-Reperfusion Brain Injury.
ACS nanoMitochondrial proteomics reveals the impact of Estrogen in enhancing energy metabolism of patient-derived fibroblast-like synoviocytes in rheumatoid arthritis.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]ZC3H4, a novel regulator of mitochondrial complex I, impacts prostate stromal cell senescence, attachment, adhesion and anoikis resistance.
Cell death & diseaseStructural dynamics of the mitochondrial ADP/ATP carrier support an asymmetric transport mechanism.
International journal of biological macromoleculesMini-review: "Hippocalcin: Molecular mechanisms and therapeutic potential in neuronal function".
Neuroscience lettersSex dimorphism and substrate dependency of liver mitochondrial bioenergetics and H2O2 production.
American journal of physiology. Gastrointestinal and liver physiologyThe Steroidogenic Acute Regulatory (STAR) Gene Anatomy, Expression, and Roles.
Development & reproductionTargeting mitochondrial transporters and metabolic reprogramming for disease treatment.
Journal of translational medicineAssociações
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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.
- Mitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis.
- The genetic architecture of postoperative delirium after major surgery and its relationship with nonpostoperative neurocognitive conditions: A genome-wide association study.
- ITPR2 Promotes Acute Myeloid Leukemia Progression Through Calcium-Mediated Mitochondrial Dysfunction.
- A Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.
- Mitochondrial acid-sensing ion channel 1a deficiency induces mitochondrial dysfunction in pulmonary arterial smooth muscle cells.American journal of physiology. Lung cellular and molecular physiology· 2026· PMID 41740252mais citado
- Targeting SLC25A33 Suppresses Vascular Smooth Muscle Cell Proliferation and Migration by Reducing Cytosolic mtDNA Levels: Implications for Occlusive Vascular Diseases.
- The depletion of TFAM and p-β-catenin(S552) in mitochondria in response to BoAHV-1 productive infection leads to decreased mitochondrial biogenesis.
- SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane.
- Screening mitochondria-related biomarkers in skin and plasma of atopic dermatitis patients by bioinformatics analysis and machine learning.
- Pathological Sequelae Associated with Skeletal Muscle Atrophy and Histopathology in G93A*SOD1 Mice.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:254827(Orphanet)
- MONDO:0016800(MONDO)
- GARD:20761(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55786458(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
