Article
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Human genetics - 1 Aug 2023
Ferrero Enza, Di Gregorio Eleonora, Ferrero Marta, Ortolan Erika, Moon Young-Ah, Di Campli Antonella, Pavinato Lisa, Mancini Cecilia, Tripathy Debasmita, Manes Marta, Hoxha Eriola, Costanzi Chiara, Pozzi Elisa, Rossi Sebastiano Matteo, Mitro Nico, Tempia Filippo, Caruso Donatella, Borroni Barbara, Basso Manuela, Sallese Michele, Brusco Alfredo
Abstract excerpt
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 ELOVL5 causes Spinocerebellar Ataxia subtype 38 (SCA38), a neurodegenerative disorder characterized by autosomal dominant inheritance, cerebellar Purkinje cell demise and adult-onset...
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