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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Pubblicato in:Hum Mol Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2018
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Accesso online: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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