Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar cognitive affective syndrome and varying clinical overlap with SCAR16. Howe...

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Detalles Bibliográficos
Autores principales: Pakdaman, Yasaman, Berland, Siren, Bustad, Helene J., Erdal, Sigrid, Thompson, Bryony A., James, Paul A., Power, Kjersti N., Ellingsen, Ståle, Krooni, Martin, Berge, Line I., Sexton, Adrienne, Bindoff, Laurence A., Knappskog, Per M., Johansson, Stefan, Aukrust, Ingvild
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8199271/
https://www.ncbi.nlm.nih.gov/pubmed/34070858
http://dx.doi.org/10.3390/ijms22115870

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8199271/
https://www.ncbi.nlm.nih.gov/pubmed/34070858
http://dx.doi.org/10.3390/ijms22115870

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