Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.

Yuliia V NikonishynaNadine J OrtnerTeresa KasererJessica HoffmannSaskia BiskupManuel DafotakisKathrin ReetzJörg B SchulzJörg StriessnigMaike F Dohrn

Published in: Movement disorders : official journal of the Movement Disorder Society (2021)

Our results support the pathogenicity of the C256F variant for the SCA phenotype and provide further insight into Cav2.1 structure and function.

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