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Article

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

Human molecular genetics - 1 Jun 2018

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

Abstract excerpt

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 yeast homolog, Mdm1, functions in endoplasmic reticulum (ER)-lysosome/vacuole inter-organelle tethering, but functional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29635513
DOI: 10.1093/hmg/ddy101
PMCID: PMC5961352

Genes

SNX14
LAMP1

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