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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Bibliographic Details
Published in:Hum Mol Genet
Main Authors: 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
Format: Artigo
Language:Inglês
Published: Oxford University Press 2018
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Online Access: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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