Condition: Juvenile Neuronal Ceroid Lipofuscinosis
rs121434286 in
CLN3 gene and
Juvenile Neuronal Ceroid Lipofuscinosis
PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
PMID 22261744 2012 Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
PMID 9490299 1998 Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.
PMID 9311735 1997 Spectrum of mutations in the Batten disease gene, CLN3.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 7553855 1995 Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
PMID 17947292 2008 A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
PMID 10332042 1999 Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
PMID 19489875 2009 Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
PMID 22545070 2012 The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.
PMID 12189165 2002 Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.
PMID 9618513 1998 A yeast model for the study of Batten disease.
PMID 10924275 2000 Mutant CLN3 protein (R334C) that is associated with the classical JNCL phenotype was devoid of biological activities of wild-type CLN3 protein.
PMID 9490299 1998 Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.
PMID 19132115 2009 The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.
PMID 21499717 2011 Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
PMID 10749980 2000 Batten disease: evaluation of CLN3 mutations on protein localization and function.
PMID 20187884 2010 Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
PMID 23539563 2013 The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
PMID 14699076 2004 Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.
PMID 9932957 1999 Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.
PMID 22013180 2011 Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.