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Article

A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.

Journal of inherited metabolic disease - 1 Jul 2023

Sleat David E, Banach-Petrosky Whitney, Larrimore Katherine E, Nemtsova Yuliya, Wiseman Jennifer A, Najafi Allison, Johnson Dymonn, Poole Timothy A, Takahashi Keigo, Cooper Jonathan D, Lobel Peter

Abstract excerpt

Late-infantile neuronal ceroid lipofuscinosis (LINCL) and juvenile neuronal ceroid lipofuscinosis (JNCL) are inherited neurodegenerative diseases caused by mutations in the genes encoding lysosomal proteins tripeptidyl peptidase 1 (TPP1) and CLN3 protein, respectively. TPP1 is well-understood and, aided by animal models that accurately recapitulate the human disease, enzyme replacement therapy has been approved...

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Identifiers

PMID: 37078466
DOI: 10.1002/jimd.12619
PMCID: PMC10330656

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