Article
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Apr 2008
Chang Michael, Cooper Jonathan D, Sleat David E, Cheng Seng H, Dodge James C, Passini Marco A, Lobel Peter, Davidson Beverly L
Abstract excerpt
Late infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive neurodegenerative disease caused by mutations in CLN2, which encodes the lysosomal protease tripeptidyl peptidase 1 (TPP1). LINCL is characterized clinically by progressive motor and cognitive decline, and premature death. Enzyme-replacement therapy (ERT) is currently available for lysosomal storage diseases affecting peripheral...
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