Condition: CEROID LIPOFUSCINOSIS, NEURONAL, 6
rs104894483 in
CLN6 gene and
CEROID LIPOFUSCINOSIS, NEURONAL, 6
PMID 11727201 2002 The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.
PMID 21359198 2011 Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.
PMID 15265688 2004 CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.
PMID 12815591 2003 Spectrum of CLN6 mutations in variant late infantile 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 19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
PMID 11791207 2002 Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
PMID 12673792 2003 Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
PMID 23180398 2013 CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
PMID 20020536 2010 Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
PMID 21549341 2011 Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
PMID 26075876 2015 Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
PMID 17453415 2007 Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.
PMID 23735787 2013 CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.
PMID 19135028 2009 Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.