Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) – distinct characteristics in neurons

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are collectively the most common type of recessively inherited childhood encephalopathies. The most severe form of NCL, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 gene, resulting in a deficiency of the lysosom...

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Autors principals: Lyly, Annina, von Schantz, Carina, Salonen, Tarja, Kopra, Outi, Saarela, Jani, Jauhiainen, Matti, Kyttälä, Aija, Jalanko, Anu
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2007
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1906764/
https://ncbi.nlm.nih.gov/pubmed/17565660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2121-8-22
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