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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.
Keyphrases
  • early onset
  • staphylococcus aureus
  • transition metal