Condition: Ceroid Lipofuscinosis, Neuronal, Parry Type
rs387907043 in
DNAJC5 gene and
Ceroid Lipofuscinosis, Neuronal, Parry Type
PMID 22235333 2012 Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
PMID 21820099 2011 Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
PMID 22073189 2011 Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
PMID 22978711 2013 Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
PMID 22902780 2012 Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.