Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1

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....

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Bibliographic Details
Main Authors: Madalena Barroso, Marcus Gertzen, Alexandra F. Puchwein-Schwepcke, Heike Preisler, Andreas Sturm, Dunja D. Reiss, Marta K. Danecka, Ania C. Muntau, Søren W. Gersting
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:International Journal of Molecular Sciences
Subjects:
glutaric aciduria
GA1
GCDH
protein folding
organic aciduria
Online Access:https://www.mdpi.com/1422-0067/24/17/13158

Internet

https://www.mdpi.com/1422-0067/24/17/13158

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