Exogenous Flupirtine as Potential Treatment for CLN3 Disease [PDF]
Cells, 2020 CLN3 disease is a fatal neurodegenerative disorder affecting children. Hallmarks include brain atrophy, accelerated neuronal apoptosis, and ceramide elevation.
Noel Ghanem +2 more
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Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals
Biomarker Insights, 2022 Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite decades of intense research, specific biofluid biomarkers of disease status have not been reported,
Jon J Brudvig +9 more
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Modeling CLN3 Batten disease in astrocytes reveals alterations in mitochondria homeostasis, fatty acid metabolism and oxidative stress response [PDF]
Journal of Biomedical ScienceBackground CLN3 Batten disease is a severe pediatric neurodegenerative disorder caused by mutations in the CLN3 gene, most commonly a 1 kb deletion encompassing exons 7 and 8.
Mingyi Yang +12 more
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Reversible synaptic deficits in early-stage batten disease [PDF]
Journal of Translational MedicineBackground Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten Disease) is a childhood-onset, neurodegenerative, lysosomal storage disorder caused by mutations in the lysosomal gene CLN3. Progressive cognitive decline is characteristic clinical feature,
Masood Ahmad Wani +4 more
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Loss of the lysosomal protein CLN3 triggers c-Abl-dependent YAP1 pro-apoptotic signaling [PDF]
EMBO ReportsBatten disease is characterized by early-onset blindness, juvenile dementia and death within the second decade of life. The most common genetic cause are mutations in CLN3, encoding a lysosomal protein.
Neuza Domingues +13 more
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Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice [PDF]
Acta Neuropathologica CommunicationsSevere gastrointestinal (GI) symptoms occur in people with CLN3 disease, a neurodegenerative disorder. If left untreated these GI symptoms compromise life quality and may contribute to death.
Ewa A. Ziółkowska +11 more
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Phenotypic variant of CLN3 mutation
American Journal of Ophthalmology Case Reports, 2022 Purpose: To report a case of bilateral chorioretinal scarring due to CLN3 heterozygous deletion in an asymptomatic patient. Observations: A 63 year-old patient with a history of well-controlled diabetes presented as a referral for diabetic retinopathy ...
Avinash Honasoge, Bradley T. Smith, MD
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PLoS ONE, 2014 The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, severe neurodegenerative disorders also known as Batten disease. Juvenile NCL (JNCL) is caused by recessive loss-of-function mutations in CLN3, which encodes a transmembrane protein that ...
Robert J Huber +2 more
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Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 type) gene expression and clinical characteristics of breast cancer patients [PDF]
Frontiers in Oncology, 2015 Breast cancer is the most common cancer in women worldwide. Elucidation of underlying biology and molecular pathways is necessary for improving therapeutic options and clinical outcomes.
Rose-Mary eBoustany +13 more
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The CLN3 gene and protein: What we know [PDF]
Molecular Genetics & Genomic Medicine, 2019 AbstractBackgroundOne of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental understanding of the CLN3 gene, its regulation, gene product, protein structure, tissue ...
Michela Palmieri +2 more
exaly +7 more sources