Cerebellar Pathology and Motor Deficits in the Palmitoyl Protein Thioesterase 1-Deficient Mouse

Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten Disease) is an inherited, neurodegenerative lysosomal storage disorder. INCL is the result of a CLN1 gene mutation leading to a deficiency in palmitoyl protein thioesterase 1 (PPT1) activity. Studies in the forebrain demonstrate the PP...

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Auteurs principaux: Macauley, Shannon L., Wozniak, David F., Kielar, Catherine, Tan, Yun, Cooper, Jonathan D., Sands, Mark S.
Format: Artigo
Langue:Inglês
Publié: 2009
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2679857/
https://ncbi.nlm.nih.gov/pubmed/19416667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.expneurol.2009.01.022
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