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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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Detalles Bibliográficos
Autores principales: Lyly, Annina, von Schantz, Carina, Salonen, Tarja, Kopra, Outi, Saarela, Jani, Jauhiainen, Matti, Kyttälä, Aija, Jalanko, Anu
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1906764/
https://www.ncbi.nlm.nih.gov/pubmed/17565660
http://dx.doi.org/10.1186/1471-2121-8-22