Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice

Neuronal ceroid lipofuscinoses represent the most common childhood neurodegenerative storage disorders. Infantile neuronal ceroid lipofuscinosis (INCL) is caused by palmitoyl protein thioesterase-1 (PPT1) deficiency. Although INCL patients show signs of abnormal neurotransmission, manifested by myoc...

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Detalhes bibliográficos
Main Authors: Kim, Sung-Jo, Zhang, Zhongjian, Sarkar, Chinmoy, Tsai, Pei-Chih, Lee, Yi-Ching, Dye, Louis, Mukherjee, Anil B.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2008
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2515381/
https://ncbi.nlm.nih.gov/pubmed/18704195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI33482
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