Associated Papers
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 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
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
Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Azab B et al.
Genes, 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
Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.
Seifert C et al.
The Journal of Biological Chemistry, 2020
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.
Kuper WFE et al.
Jimd Reports, 2020
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.
Mathavarajah S et al.
Cells, 2018
Timing of cognitive decline in CLN3 disease.
Kuper WFE et al.
Journal of Inherited Metabolic Disease, 2018
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Kohan R et al.
Biochimica Et Biophysica Acta, 2015
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A et al.
Clinical Genetics, 2009
Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
Pohl S et al.
Journal of Neurochemistry, 2007
btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.
Gachet Y et al.
Journal of Cell Science, 2005
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.
Ezaki J et al.
Brain Pathology (zurich, Switzerland), 2004
Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.
Persaud-Sawin DA et al.
Human Molecular Genetics, 2002
CLN3 disease process: missense point mutations and protein depletion in vitro.
Golabek AA et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2001
CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells.
Golabek AA et al.
Molecular Genetics and Metabolism, 2000
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