Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J et al.
International Journal of Molecular Sciences, 2024
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Quinodoz M et al.
American Journal of Human Genetics, 2024
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
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
Kolesnikova M et al.
Investigative Ophthalmology & Visual Science, 2023
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons.
Chear S et al.
Disease Models & Mechanisms, 2022
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
CLN3, at the crossroads of endocytic trafficking.
Cotman SL et al.
Neuroscience Letters, 2021
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM et al.
Jama Ophthalmology, 2021
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
Mizobuchi K et al.
Molecular Genetics & Genomic Medicine, 2020
CLN3 regulates endosomal function by modulating Rab7A-effector interactions.
Yasa S et al.
Journal of Cell Science, 2020
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
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis.
Oetjen S et al.
Journal of Neurochemistry, 2016
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F et al.
Human Genetics, 2014
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
Uusi-Rauva K et al.
Cellular and Molecular Life Sciences : Cmls, 2012
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.
Cotman SL et al.
Clinical Lipidology, 2012
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
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Bell CJ et al.
Science Translational Medicine, 2011
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A et al.
Clinical Genetics, 2009
A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.
Aberg L et al.
Pediatric Neurology, 2009
Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.
Chan CH et al.
Human Molecular Genetics, 2008
Btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH.
Codlin S et al.
Journal of Cell Science, 2008
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
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.
Luiro K et al.
Human Molecular Genetics, 2004
A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes.
Persaud-Sawin DA et al.
Pediatric Research, 2004
Current state of clinical and morphological features in human NCL.
Goebel HH et al.
Brain Pathology (zurich, Switzerland), 2004
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
Neuronal ceroid lipofuscinoses: research update.
Wisniewski KE et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2000
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
Järvelä I et al.
Human Molecular Genetics, 1999
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
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.
Wisniewski KE et al.
Annals of Neurology, 1998
Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.
Zhong N et al.
Human Genetics, 1998
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
Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life.
Preising MN et al.
Ophthalmic Genetics, 0