Article

Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot

2023-02-28

Abstract excerpt

<title>Abstract</title> <p>Fatty acid elongase ELOVL5 is part of a protein family of multipass transmembrane proteins that reside in the endoplasmic reticulum where they regulate long-chain fatty acid elongation. A missense variant (c.689G > T p.Gly230Val) in <italic>ELOVL5</italic> causes Spinocerebellar Ataxia subtype 38 (SCA38), a neurodegenerative disorder characterized by autosomal dominant inheritance, cere...

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Literature Corpus work: 43e76b7d-d159-59d1-be6d-321a364ef26a
DOI: 10.21203/rs.3.rs-2616059/v1

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