Article
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
American journal of human genetics - 1 Jun 1999
Sleat D E, Gin R M, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat R K, Palmer D N, Lerner T J, Boustany R M, Uldall P, Siakotos A N, Donnelly R J, Lobel P
Abstract excerpt
The late-infantile form of neuronal ceroid lipofuscinosis (LINCL) is a progressive and ultimately fatal neurodegenerative disease of childhood. The defective gene in this hereditary disorder, CLN2, encodes a recently identified lysosomal pepstatin-insensitive acid protease. To better understand the molecular pathology of LINCL, we conducted a genetic survey of CLN2 in 74 LINCL families. In 14 patients, CLN2...
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