Uma doença causada por alterações (mutações) no gene CLN3, que é responsável por produzir a proteína battenina. Ela faz parte de um grupo de doenças neurodegenerativas — problemas que afetam o cérebro e os nervos e pioram com o tempo — que podem ter diversas causas genéticas. Essas doenças são caracterizadas pelo acúmulo de substâncias gordurosas e coloridas dentro das células.
Introdução
O que você precisa saber de cara
Uma doença causada por alterações (mutações) no gene CLN3, que é responsável por produzir a proteína battenina. Ela faz parte de um grupo de doenças neurodegenerativas — problemas que afetam o cérebro e os nervos e pioram com o tempo — que podem ter diversas causas genéticas. Essas doenças são caracterizadas pelo acúmulo de substâncias gordurosas e coloridas dentro das células.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as regulation of lysosomal pH, lysosome protein degradation, receptor-mediated endocytosis, autophagy, transport of proteins and lipids from the TGN, apoptosis and synaptic transmission (PubMed:10924275, PubMed:15471887, PubMed:18317235, PubMed:18817525, PubMed:20850431, PubMed:22261744). Facilitates the
Lysosome membraneLate endosomeLysosomeGolgi apparatusGolgi apparatus membraneGolgi apparatus, Golgi stackGolgi apparatus, trans-Golgi networkCell membraneRecycling endosomeMembrane raftMembrane, caveolaEarly endosome membraneSynapse, synaptosomeLate endosome membraneCytoplasmic vesicle, autophagosome
Ceroid lipofuscinosis, neuronal, 3
A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.
Variantes genéticas (ClinVar)
405 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
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Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — CLN3 disease
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Publicações mais relevantes
A timeline of symptom onset and disease progression in CLN3 disease.
CLN3 disease, or Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), is a rare, genetic neurodegenerative condition, typically manifesting in the first decade of life and progressing in severity, with death typically occurring in early adulthood. Despite two decades of natural history research, a clear timeline of CLN3 disease symptom onset and progression remains poorly defined, limiting optimal patient management and therapeutic development. We conducted a literature review and analysed the natural history data to better understand the age of core symptom onset and chronological disease progression. A literature review was undertaken using a pre-defined search strategy focused on CLN3 disease natural history studies, where age at onset for one or more core symptoms was reported in cohorts of ≥ 15 subjects. For each symptom, weighted mean age at onset and weighted standard deviation were calculated, with 95% confidence intervals derived from the weighted standard error. Symptom onset ages were compared using ANOVA. We identified nine natural history studies that met our pre-defined criteria. In total, 423 discrete patients aged between 4 and 39 years were reported. Thirteen core symptoms and a weighted average age at onset and weighted standard deviation were (in years): vision loss (6.1 ± 1.6, N = 254), behavioural changes (8.5 ± 3.9, N = 194), cognitive decline (9.3 ± 3.1, N = 219), seizures (10.2 ± 3.0, N = 243), sleep disturbance (11.0 ± 6.1, N = 111), motor decline (11.0 ± 3.8, N = 108), complete blindness (11.4 ± 3.6, N = 171), speech and language impairment (12.7 ± 4.8, N = 136), Parkinsonian gait (14.1 ± 2.5, N = 111), cardiac manifestations (17.8 ± 4.4, N = 45), loss of independent walking (19.5 ± 3.2, N = 70), feeding difficulties requiring enteral feeding tube (22.0 ± 1.6, N = 35), and death (22.4 ± 4.4, N = 95). This comprehensive summary of available natural history data illustrates mean age at onset of 13 core symptoms of CLN3 disease, and characterises a chronological timeline of disease progression. These results provide much-needed practical, anticipatory guidance to those involved in caring for individuals with CLN3 disease, and serve to highlight the critical importance of collecting globally standardised, quantifiable, longitudinal data for optimising patient management and advancing therapeutic approaches for CLN3 disease. The online version contains supplementary material available at 10.1186/s13023-025-04174-5.
Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.
Longitudinal deep multi-omics profiling in a CLN3Δex7/8 minipig model identifies biomarker signatures of disease.
Development of therapies for CLN3 disease, a rare pediatric lysosomal storage disorder, has been hindered by the lack of etiological insights and translatable biomarkers to clinics. We used a deep multi-omics approach to discover blood-based biomarkers using longitudinal serum samples from a porcine model of CLN3 disease. Comprehensive metabolomics was combined with a nanoparticle-based LC-MS-based proteomic profiling coupled with TMTpro 18-plex to generate quantitative data on 769 metabolites and 2634 proteins, collectively the most exhaustive multi-omics profile conducted on serum from a porcine model. This was previously impossible due to lack of efficient deep serum proteome profiling technologies compatible with model organisms. Here we show that the presymptomatic disease state is characterized by elevations in glycerophosphodiester species and lysosomal proteases, while later timepoints are enriched with species involved in immune cell activation and sphingolipid metabolism. Cathepsin S (CTSS), Cathepsin B (CTSB), glycerophosphoinositol, and glycerophosphoethanolamine captured a large portion of the genotype-correlated variation between healthy and diseased animals, suggesting that an index score based on these analytes could have great utility in the clinic. This study's findings demonstrate the potential of deep multi-omics profiling for uncovering disease-specific biomarkers, providing valuable insights for understanding disease and facilitating the identification of potential drug targets, thus offering valuable insights for therapeutic interventions. Batten disease is a rare childhood disorder in which brain cells become damaged and there is a decline in physical and mental abilities. It is difficult to monitor disease progression or response to treatments as there are no established components of the blood (biomarkers) that can be used to identify people with the disease. Identifying such biomarkers is critical to understanding why disease develops and to enable development of treatments. We used a large animal model of Batten disease to investigate whether blood-based biomarkers could be identified. We developed a scoring framework that accurately distinguishes disease from control samples. These findings suggest that the identified biomarkers have the potential to be used to determine response in clinical trials.
Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease.
Neuronal ceroid lipofuscinosis type 3 (CLN3) disease is a rare, life-limiting pediatric neurodegenerative disorder with no approved disease-modifying therapy. We conducted a prospective case report from October 2023 to April 2025 involving two female siblings with genetically confirmed CLN3 disease (homozygous for the common 1 kb deletion). Both patients were treated with oral, weight-based miglustat for 18 months. Miglustat was supplied as off-label use in the absence of a therapeutic alternative for this severe neurodegenerative disorder. Clinical outcomes were assessed using comprehensive ophthalmologic evaluation, the Unified Batten Disease Rating Scale (UBDRS), and the Vineland Adaptive Behavior Scales, Third Edition (Vineland-3). At the time of report, patients were aged 13 and 10 years. Both had been diagnosed at age 7 years and commenced miglustat at ages 11 and 9 years, respectively. Over the treatment period, both patients demonstrated improvement in visual acuity and clinical stabilization on the Unified Batten Disease Rating Scale. One patient showed measurable improvement in adaptive functioning as assessed by Vineland-3. No significant adverse effects were reported. These preliminary findings suggest potential short-term clinical benefit of miglustat in pediatric patients with CLN3 disease, particularly when initiated early in the disease course. Further studies involving larger cohorts and longer follow-up are warranted to evaluate the safety and long-term efficacy of miglustat in this population.
Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3.
Neuronal ceroid lipofuscinosis type 3 (CLN3) is a rare lysosomal storage disorder characterized by progressive neurodegeneration. No disease-modifying treatments are currently available. Miglustat, a substrate reduction therapy, has shown preclinical efficacy in CLN3 models (conference abstract). The aim of this study was to assess the long-term safety and clinical impact of miglustat in patients with CLN3 disease. This was an open-label, single-center study conducted at Bambino Gesù Children's Hospital in Rome, Italy. Oral miglustat was titrated to 15 mg/kg/d or a maximum of 600 mg/d. Patients were assessed every 6 months using the Unified Batten Disease Rating Scale (UBDRS). The primary outcome was the annual rate of change in the UBDRS physical subscale. Clinical data were analyzed descriptively. Six patients (33% female) with a median age of 20.34 years (interquartile range [IQR] 18.25-23.84) were treated and followed for a median of 3.9 years (IQR 3.32-4.34). The mean annual change in the UBDRS physical score was +1.96 points per year (SD ± 0.80). Miglustat was well tolerated, with only mild, self-limiting gastrointestinal side effects observed. Miglustat showed a favorable safety profile and was associated with a slower rate of physical decline compared with historical controls. Limitations include small sample size, genetic heterogeneity, and open-label design.
Publicações recentes
Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease.
Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.
Longitudinal deep multi-omics profiling in a CLN3(Δex7/8) minipig model identifies biomarker signatures of disease.
A timeline of symptom onset and disease progression in CLN3 disease.
Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice.
📚 EuropePMC71 artigos no totalmostrando 113
Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.
Orphanet journal of rare diseasesLongitudinal deep multi-omics profiling in a CLN3Δex7/8 minipig model identifies biomarker signatures of disease.
Communications medicineA timeline of symptom onset and disease progression in CLN3 disease.
Orphanet journal of rare diseasesEnteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice.
Acta neuropathologica communicationsProtocol for screening of small molecules in a CLN3 disease patient-specific iPSC-derived neuronal progenitor cell model.
STAR protocolsLongitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study.
bioRxiv : the preprint server for biologySex-specific and age-related progression of auditory neurophysiological deficits in the Cln3 mouse model of Batten disease.
Journal of neurodevelopmental disordersTherapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease.
Nucleic acids researchVisual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease.
Journal of child neurologyLong-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3.
NeurologyDiscovery of Functionalized 1H-Benzo[d]imidazoles That Confer Protective Effects in a Phenotypic CLN3 Disease Patient-Derived iPSC Model.
Journal of medicinal chemistryA 3D iPSC retina model reveals non-cell-autonomous and non-neuronal mechanism of photoreceptor degeneration in a lysosomal storage disorder.
bioRxiv : the preprint server for biologyGene therapy ameliorates neuromuscular pathology in CLN3 disease.
Acta neuropathologica communicationsDownregulation of AKT-mediated p27Kip1 phosphorylation with shift to sphingomyelin synthesis in CLN3 disease.
IBRO neuroscience reportsGlucosylsphingosine is a potential fluid-based biomarker of lysosomal dysfunction in Cln3Δex7/8 mice.
Neurobiology of diseaseCLN3 disease disrupts very early postnatal hippocampal maturation.
Scientific reportsImpact of CLN3 Disease on Child Quality of Life and Family Function.
Pediatric neurologyEvidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom.
Orphanet journal of rare diseasesCharacterisation of sleep in a mouse model of CLN3 disease revealed sex-specific sleep disturbances.
Journal of sleep researchSpeech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
Journal of inherited metabolic diseaseTagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples.
The Journal of clinical investigationGenetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.
Investigative ophthalmology & visual scienceLoss of CLN3 in microglia leads to impaired lipid metabolism and myelin turnover.
Communications biologyInsight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH).
Orphanet journal of rare diseasesCLN3 transcript complexity revealed by long-read RNA sequencing analysis.
BMC medical genomicsTRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells.
Scientific reportsUpregulation of peroxisome proliferator-activated receptor γ with resorcinol alleviates reactive oxygen species generation and lipid accumulation in neuropathic lysosomal storage diseases.
The international journal of biochemistry & cell biologyThe parent and family impact of CLN3 disease: an observational survey-based study.
Orphanet journal of rare diseasesThe Psychiatric Care of Children and Young Adults With Neurodegenerative Diseases.
Journal of the American Academy of Child and Adolescent PsychiatryCLN3 deficiency leads to neurological and metabolic perturbations during early development.
Life science allianceAssessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN).
Journal of neurodevelopmental disordersTreatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
Frontiers in neurologyProtracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach.
Molecular therapy. Nucleic acidsA novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes.
Disease models & mechanismsJuvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease.
EBioMedicineEnhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain.
Biochimica et biophysica acta. Molecular basis of diseaseEtiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
Frontiers in psychiatryBrain proton MR spectroscopy measurements in CLN3 disease.
Molecular genetics and metabolismRecognition and epileptology of protracted CLN3 disease.
EpilepsiaEarly postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease.
Frontiers in geneticsEarly recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.
Documenta ophthalmologica. Advances in ophthalmologyConverging links between adult-onset neurodegenerative Alzheimer's disease and early life neurodegenerative neuronal ceroid lipofuscinosis?
Neural regeneration researchLysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons.
Disease models & mechanismsTop-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses.
Frontiers in neurologyGlycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs, Cln3 Δex7-8 Mice, and CLN3-Affected Individuals.
Biomarker insightsCardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report.
Frontiers in neurologyDrug-induced hyperthermia with rhabdomyolysis in CLN3 disease.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyNatural history of MRI brain volumes in patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging biomarker.
NeuroradiologyTowards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family.
International journal of environmental research and public healthThe Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyNeuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.
Molecular therapy : the journal of the American Society of Gene TherapyPacemaker Implantation in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)-A Long-Term Follow-Up Study.
Frontiers in neurologyParental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience.
Child: care, health and developmentConverging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
AutophagyUse of the Vineland-3, a measure of adaptive functioning, in CLN3.
American journal of medical genetics. Part AA diagnostic confidence scheme for CLN3 disease.
Journal of inherited metabolic diseaseCLN3, at the crossroads of endocytic trafficking.
Neuroscience lettersAuthor Correction: Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.
Scientific reportsGlobal network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.
Scientific reportsAutomatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease).
JIMD reportsCharacterizing upper limb function in the context of activities of daily living in CLN3 disease.
American journal of medical genetics. Part ASeizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.
Journal of inherited metabolic diseaseA human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface.
Communications biologyGene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids.
Molecular genetics & genomic medicineNeurofilament light chain levels correlate with clinical measures in CLN3 disease.
Genetics in medicine : official journal of the American College of Medical GeneticsCurrent Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
International journal of molecular sciencesRecognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.
Acta ophthalmologicaAn iPSC-Derived Neuron Model of CLN3 Disease Facilitates Small Molecule Phenotypic Screening.
ACS pharmacology & translational scienceSex differences in gene expression with galactosylceramide treatment in Cln3Δex7/8 mice.
PloS oneImaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
Data in briefExogenous Flupirtine as Potential Treatment for CLN3 Disease.
CellsAn Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease.
American journal of ophthalmologyQuantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.
JIMD reportsA tailored Cln3Q352X mouse model for testing therapeutic interventions in CLN3 Batten disease.
Scientific reportsLoss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.
Biochimica et biophysica acta. Molecular basis of diseaseGene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.
Human gene therapyThe CLN3 Disease Staging System: A new tool for clinical research in Batten disease.
NeurologyThe c.1A > C start codon mutation in CLN3 is associated with a protracted disease course.
JIMD reportsSynapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.
Acta neuropathologica communicationsAn Autophagy Modifier Screen Identifies Small Molecules Capable of Reducing Autophagosome Accumulation in a Model of CLN3-Mediated Neurodegeneration.
CellsNeuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder.
JCI insightCombined Anti-inflammatory and Neuroprotective Treatments Have the Potential to Impact Disease Phenotypes in Cln3 -/- Mice.
Frontiers in neurologyThe CLN3 gene and protein: What we know.
Molecular genetics & genomic medicineExogenous Galactosylceramide as Potential Treatment for CLN3 Disease.
Annals of neurologyA novel, hybrid, single- and multi-site clinical trial design for CLN3 disease, an ultra-rare lysosomal storage disorder.
Clinical trials (London, England)Motor function impairment is an early sign of CLN3 disease.
NeurologyOverview of advances in educational and social supports for young persons with NCL disorders.
Biochimica et biophysica acta. Molecular basis of diseaseEpileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan.
Epilepsy & behavior : E&BDevelopmental Comparison of Ceramide in Wild-Type and Cln3 Δex7/8 Mouse Brains and Sera.
Frontiers in neurologyAutophagic vacuolar myopathy is a common feature of CLN3 disease.
Annals of clinical and translational neurologyClinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
Documenta ophthalmologica. Advances in ophthalmologyCln3 function is linked to osmoregulation in a Dictyostelium model of Batten disease.
Biochimica et biophysica acta. Molecular basis of diseaseCompromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis.
Acta neuropathologica communicationsFirst case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.
Clinica chimica acta; international journal of clinical chemistryAstrocytes in juvenile neuronal ceroid lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities.
Journal of neurochemistryShort-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis).
JIMD reportsCaspase 1 activity influences juvenile Batten disease (CLN3) pathogenesis.
Journal of neurochemistryTiming of cognitive decline in CLN3 disease.
Journal of inherited metabolic diseaseGlial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.
Acta neuropathologica communicationsProteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
Journal of proteome researchDetailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
JAMA ophthalmologyFingolimod and Teriflunomide Attenuate Neurodegeneration in Mouse Models of Neuronal Ceroid Lipofuscinosis.
Molecular therapy : the journal of the American Society of Gene TherapyRole of the Lysosomal Membrane Protein, CLN3, in the Regulation of Cathepsin D Activity.
Journal of cellular biochemistryFlunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease.
Journal of inherited metabolic diseaseJuvenile NCL (CLN3 Disease): Emerging Disease-Modifying Therapeutic Strategies.
Pediatric endocrinology reviews : PERNeurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease).
PloS oneSialoadhesin promotes neuroinflammation-related disease progression in two mouse models of CLN disease.
GliaVision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
Annals of the New York Academy of SciencesA central role for TOR signalling in a yeast model for juvenile CLN3 disease.
Microbial cell (Graz, Austria)Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics of Breast Cancer Patients.
Frontiers in oncologyNovel morphological macular findings in juvenile CLN3 disease.
The British journal of ophthalmologyAbnormally increased surface expression of AMPA receptors in the cerebellum, cortex and striatum of Cln3(-/-) mice.
Neuroscience lettersFinding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender.
Disease models & mechanismsAssociações
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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.
- A timeline of symptom onset and disease progression in CLN3 disease.
- Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.
- Longitudinal deep multi-omics profiling in a CLN3Δex7/8 minipig model identifies biomarker signatures of disease.
- Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease.
- Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3.
- Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease.
- Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:228346(Orphanet)
- OMIM OMIM:204200(OMIM)
- MONDO:0008767(MONDO)
- GARD:5897(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q32140649(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
