Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
Journal
medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986
Informations de publication
Date de publication:
20 Dec 2023
20 Dec 2023
Historique:
medline:
10
1
2024
pubmed:
10
1
2024
entrez:
10
1
2024
Statut:
epublish
Résumé
Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for cluster acquisition. Here we report that patients with biallelic loss of function in
Identifiants
pubmed: 38196629
doi: 10.1101/2023.12.20.23300170
pmc: PMC10775405
pii:
doi:
Types de publication
Preprint
Langues
eng