Association of the Recurrent <i>ATP1</i> <i>A1</i> Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function
Our results demonstrate that the pathogenic nature of this variant causes considerable loss of function due to diminished plasma membrane localization and kinetic impairments on the enzyme, without obvious dominant-negative effects. Our findings are similar to those previously reported for other CMT disease-causing ATP1A1 variants.
Authors
- Steven S. Scherer (ORCID: https://orcid.org/0000-0002-3900-2367)
- Kerri Spontarelli (ORCID: https://orcid.org/0000-0002-5988-028X)
- J. Fernando Olivera
- Brett A. McCray (ORCID: https://orcid.org/0000-0001-6581-9728)
- Shawn J. Bird (ORCID: https://orcid.org/0009-0007-0224-7903)
- Sho Yano (ORCID: https://orcid.org/0000-0002-4177-3064)
- Pablo Artigas (ORCID: https://orcid.org/0000-0002-6893-9765)
- Nicolas G. Colmano (ORCID: https://orcid.org/0000-0001-9404-2129)
Institutions
- Texas Tech University (US)
- University of Michigan (US)
- University of Chicago (US)
- University of Pennsylvania (US)
- Texas Tech University Health Sciences Center (US)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-09-30
- DOI
- https://doi.org/10.1212/nxg.0000000000200309
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00