A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions

Heterozygous pathogenic variants in the STIP1 homologous and U-box containing protein 1 (STUB1) gene have been identified as causes of autosomal dominant inherited spinocerebellar ataxia type 48 (SCA48). SCA48 is characterized by an ataxic movement disorder that is often, but not always, accompanied...

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Detalles Bibliográficos
Autores principales: Reis, Marlen Colleen, Patrun, Julia, Ackl, Nibal, Winter, Pia, Scheifele, Maximilian, Danek, Adrian, Nolte, Dagmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9048483/
https://www.ncbi.nlm.nih.gov/pubmed/35493319
http://dx.doi.org/10.3389/fnmol.2022.878236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9048483/
https://www.ncbi.nlm.nih.gov/pubmed/35493319
http://dx.doi.org/10.3389/fnmol.2022.878236

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