Article
A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 13 Oct 2004
Sleat David E, Wiseman Jennifer A, El-Banna Mukarram, Kim Kwi-Hye, Mao Qinwen, Price Sandy, Macauley Shannon L, Sidman Richard L, Shen Michael M, Zhao Qi, Passini Marco A, Davidson Beverly L, Stewart Gregory R, Lobel Peter
Abstract excerpt
Mutations in the CLN2 gene, which encodes a lysosomal serine protease, tripeptidyl-peptidase I (TPP I), result in an autosomal recessive neurodegenerative disease of children, classical late-infantile neuronal ceroid lipofuscinosis (cLINCL). cLINCL is inevitably fatal, and there currently exists no cure or effective treatment. In this report, we provide the characterization of the first CLN2-targeted mouse model...
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