Variant: rs386833694 

    present in Gene: CLN3
    present in Chromosome: 16
    Position on Chromosome: 28482161
    Alleles of this Variant: G/A;T

rs386833694 in CLN3 gene and Juvenile Neuronal Ceroid Lipofuscinosis PMID 12189165 2002 Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.

PMID 22261744 2012 Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

PMID 9311735 1997 Spectrum of mutations in the Batten disease gene, CLN3.

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 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

rs386833694 in CLN3 gene and Neuronal Ceroid-Lipofuscinoses PMID 17868323 2007 Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.

PMID 17475770 2007 Nitric oxide signaling is disrupted in the yeast model for Batten disease.

PMID 10749980 2000 Batten disease: evaluation of CLN3 mutations on protein localization and function.

PMID 16291725 2005 btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.

PMID 9311735 1997 Spectrum of mutations in the Batten disease gene, CLN3.

PMID 19132115 2009 The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.