An impaired splicing program underlies differentiation defects in hSOD1
ALS
Alternative splicing
Neural progenitor cells
Journal
Cellular and molecular life sciences : CMLS
ISSN: 1420-9071
Titre abrégé: Cell Mol Life Sci
Pays: Switzerland
ID NLM: 9705402
Informations de publication
Date de publication:
31 Jul 2023
31 Jul 2023
Historique:
received:
07
03
2023
accepted:
19
07
2023
revised:
17
07
2023
pubmed:
1
8
2023
medline:
1
8
2023
entrez:
31
7
2023
Statut:
epublish
Résumé
Amyotrophic lateral sclerosis (ALS) is an adult devastating neurodegenerative disease characterized by the loss of upper and lower motor neurons (MNs), resulting in progressive paralysis and death. Genetic animal models of ALS have highlighted dysregulation of synaptic structure and function as a pathogenic feature of ALS-onset and progression. Alternative pre-mRNA splicing (AS), which allows expansion of the coding power of genomes by generating multiple transcript isoforms from each gene, is widely associated with synapse formation and functional specification. Deciphering the link between aberrant splicing regulation and pathogenic features of ALS could pave the ground for novel therapeutic opportunities. Herein, we found that neural progenitor cells (NPCs) derived from the hSOD1
Identifiants
pubmed: 37524863
doi: 10.1007/s00018-023-04893-7
pii: 10.1007/s00018-023-04893-7
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
236Subventions
Organisme : Associazione Italiana per la Ricerca sul Cancro
ID : IG21877
Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer Nature Switzerland AG.
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