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Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD

The most common genetic cause of familial and sporadic amyotrophic lateral sclerosis (ALS) is a GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene. While direct molecular hallmarks of the C9orf72 HRE (repeat RNA foci, dipeptide repeat protein pathology) are well characterized, the mech...

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Detalles Bibliográficos
Autores principales: Coyne, Alyssa N., Rothstein, Jeffrey D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7977268/
https://www.ncbi.nlm.nih.gov/pubmed/33741069
http://dx.doi.org/10.1186/s40478-021-01150-5