Associated Papers
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions.
Dwojak E et al.
Stem Cell Research, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes.
Zhang X et al.
Molecular Vision, 2024
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
Calcagni' A et al.
Nature Communications, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
Glycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs, Cln3 Δex7-8 Mice, and CLN3-Affected Individuals.
Brudvig JJ et al.
Biomarker Insights, 2022
CLN3 regulates endosomal function by modulating Rab7A-effector interactions.
Yasa S et al.
Journal of Cell Science, 2020
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
Jilani A et al.
Jimd Reports, 2019
Autophagic vacuolar myopathy is a common feature of CLN3 disease.
Radke J et al.
Annals of Clinical and Translational Neurology, 2018
Timing of cognitive decline in CLN3 disease.
Kuper WFE et al.
Journal of Inherited Metabolic Disease, 2018
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
Ku CA et al.
Jama Ophthalmology, 2017
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.
Drack AV et al.
Journal of Child Neurology, 2013
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
Miller JN et al.
Human Molecular Genetics, 2013
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Adams HR et al.
Developmental Medicine and Child Neurology, 2010
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A et al.
Clinical Genetics, 2009
Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease.
Seehafer SS et al.
Biochemical and Biophysical Research Communications, 2009
Defective lysosomal arginine transport in juvenile Batten disease.
Ramirez-Montealegre D et al.
Human Molecular Genetics, 2005
btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.
Gachet Y et al.
Journal of Cell Science, 2005
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE et al.
Neurogenetics, 2005
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
Mole SE
Brain Pathology (zurich, Switzerland), 2004
Membrane topology of CLN3, the protein underlying Batten disease.
Mao Q et al.
Febs Letters, 2003
Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.
Persaud-Sawin DA et al.
Human Molecular Genetics, 2002
Batten disease: evaluation of CLN3 mutations on protein localization and function.
Haskell RE et al.
Human Molecular Genetics, 2000
Investigation of Batten disease with the yeast Saccharomyces cerevisiae.
Pearce DA et al.
Molecular Genetics and Metabolism, 1999
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
Spectrum of mutations in the Batten disease gene, CLN3.
Munroe PB et al.
American Journal of Human Genetics, 1997
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
Haines RL et al.
Disease Models & Mechanisms, 0