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

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

Abstract 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,...

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Bibliographic Details
Main Authors: Alyssa N. Coyne, Jeffrey D. Rothstein
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Acta Neuropathologica Communications
Subjects:
C9orf72
Nuclear morphology
Nucleocytoplasmic transport
Nuclear pore complex
Lamin B1
Nuclear envelope
Online Access:https://doi.org/10.1186/s40478-021-01150-5

Internet

https://doi.org/10.1186/s40478-021-01150-5

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