Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia-Reference-Cited by-同舟云学术

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

Published:2021-10-14 Issue: Volume: Page:
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Nikonishyna Yuliia V.¹,Ortner Nadine J.¹,Kaserer Teresa²,Hoffmann Jessica³,Biskup Saskia³,Dafotakis Manuel⁴,Reetz Kathrin⁴⁵^ORCID,Schulz Jörg B.⁴⁵,Striessnig Jörg¹,Dohrn Maike F.⁴⁶^ORCID

Affiliation:

1. Department of Pharmacology and Toxicology Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck Innsbruck Austria

2. Department of Pharmaceutical Chemistry Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck Innsbruck Austria

3. Center for Genomics and Transcriptomics and Praxis für Humangenetik Tübingen Tübingen Germany

4. Department of Neurology Medical Faculty of the RWTH Aachen University Aachen Germany

5. JARA‐BRAIN Institute Molecular Neuroscience and Neuroimaging Forschungszentrum Jülich GmbH and RWTH Aachen University Aachen Germany

6. Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami, Miller School of Medicine Miami Florida USA

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28835

Reference16 articles.

1. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, machado-joseph disease, or dentato-rubro-pallido-luysian atrophy locus

2. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

3. From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

4. Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies

5. Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder

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