Progress in Elucidating Pathophysiology of Mucolipidosis IV.

Mucolipidosis IV (MLIV) is an autosomal-recessive disease caused by loss-of-function mutations in the MCOLN1 gene encoding the non-selective cationic lysosomal channel transient receptor potential mucolipin-1 (TRPML1). Patients with MLIV suffer from severe motor and cognitive deficits that manifest...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Neurosci Lett
Asıl Yazarlar: Misko, Albert, Wood, Levi, Kiselyov, Kirill, Slaugenhaupt, Susan, Grishchuk, Yulia
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2021
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8253105/
https://ncbi.nlm.nih.gov/pubmed/33965501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neulet.2021.135944
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