Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
GA1
GCDH
glutaric aciduria
organic aciduria
protein folding
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
24 Aug 2023
24 Aug 2023
Historique:
received:
04
07
2023
revised:
11
08
2023
accepted:
19
08
2023
medline:
11
9
2023
pubmed:
9
9
2023
entrez:
9
9
2023
Statut:
epublish
Résumé
Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein conformation can affect the biochemical phenotype. We aimed to elucidate the molecular basis of protein loss of function in GA1 by performing a parallel analysis in a large panel of
Identifiants
pubmed: 37685964
pii: ijms241713158
doi: 10.3390/ijms241713158
pmc: PMC10487539
pii:
doi:
Substances chimiques
Glutaryl-CoA Dehydrogenase
EC 1.3.8.6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Else Kröner Fresenius Clinical Research School - Rare immune system diseases
ID : to AFP-S
Organisme : Funding program for research and teaching (FöFoLe 543 Program) from the medical school of Ludwig-Maximilians-University, 80337 Munich, Germany
ID : 45/2010; 797/2012
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