Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.
NDP kinase
NME3
metabolic adaptation
mitochondrial fusion
neurodegeneration
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
08 01 2019
08 01 2019
Historique:
pubmed:
28
12
2018
medline:
13
3
2019
entrez:
28
12
2018
Statut:
ppublish
Résumé
We report a patient who presented with congenital hypotonia, hypoventilation, and cerebellar histopathological alterations. Exome analysis revealed a homozygous mutation in the initiation codon of the
Identifiants
pubmed: 30587587
pii: 1818629116
doi: 10.1073/pnas.1818629116
pmc: PMC6329951
doi:
Substances chimiques
NM23 Nucleoside Diphosphate Kinases
0
Adenosine Triphosphate
8L70Q75FXE
NME3 protein, human
EC 2.7.4.6
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
566-574Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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