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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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Detaylı Bibliyografya
Asıl Yazarlar: Lyly, Annina, von Schantz, Carina, Salonen, Tarja, Kopra, Outi, Saarela, Jani, Jauhiainen, Matti, Kyttälä, Aija, Jalanko, Anu
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2007
Konular:
Online Erişim: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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