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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Detalles Bibliográficos
Autores principales: Barroso, Madalena, Gertzen, Marcus, Puchwein-Schwepcke, Alexandra F., Preisler, Heike, Sturm, Andreas, Reiss, Dunja D., Danecka, Marta K., Muntau, Ania C., Gersting, Søren W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487539/
https://www.ncbi.nlm.nih.gov/pubmed/37685964
http://dx.doi.org/10.3390/ijms241713158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487539/
https://www.ncbi.nlm.nih.gov/pubmed/37685964
http://dx.doi.org/10.3390/ijms241713158

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