Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.

doi:10.1038/s41598-020-70797-2

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Article

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.

Scientific reports - 13 Aug 2020

Bryant Dale, Seda Marian, Peskett Emma, Maurer Constance, Pomeranz Gideon, Ghosh Marcus, Hawkins Thomas A, Cleak James, Datta Sanchari, Hariri Hanaa, Eckert Kaitlyn M, Jafree Daniyal J, Walsh Claire, Demetriou Charalambos, Ishida Miho, Alemán-Charlet Cristina, Vestito Letizia, Seselgyte Rimante, McDonald Jeffrey G, Bitner-Glindzicz Maria, Hemberger Myriam, Rihel Jason, Teboul Lydia, Henne W Mike, Jenkins Dagan, Moore Gudrun E, Stanier Philip

Abstract excerpt

Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) in both humans and dogs. Studies implicating the phenotypic consequences of SNX14 mutations to be consequences of subcellular disruption to autophagy and lipid metabolism have been limited to in vitro investigation of patient-derived dermal fibroblasts, laboratory engineered cell lines and developmental analysis of zebrafish...

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PMID: 32792680
DOI: 10.1038/s41598-020-70797-2
PMCID: PMC7427099

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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