SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

Mutations in SNX14 cause the autosomal recessive cerebellar ataxia 20 (SCAR20). Mutations generally result in loss of protein although several coding region deletions have also been reported. Patient-derived fibroblasts show disrupted autophagy, but the precise function of SNX14 is unknown. The yeas...

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Detaylı Bibliyografya
Yayımlandı:Hum Mol Genet
Asıl Yazarlar: Bryant, Dale, Liu, Yang, Datta, Sanchari, Hariri, Hanaa, Seda, Marian, Anderson, Glenn, Peskett, Emma, Demetriou, Charalambos, Sousa, Sergio, Jenkins, Dagan, Clayton, Peter, Bitner-Glindzicz, Maria, Moore, Gudrun E, Henne, W Mike, Stanier, Philip
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2018
Konular:
Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5961352/
https://ncbi.nlm.nih.gov/pubmed/29635513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy101
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