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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Veröffentlicht in:	International journal of molecular sciences 2023-09, Vol.24 (17), p.13158
Hauptverfasser:	Barroso, Madalena, Gertzen, Marcus, Puchwein-Schwepcke, Alexandra F, Preisler, Heike, Sturm, Andreas, Reiss, Dunja D, Danecka, Marta K, Muntau, Ania C, Gersting, Søren W
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Cellular proteins Creatinine Dehydrogenases Enzymes Genotype & phenotype Health aspects Medical research Medical screening Medicine, Experimental Mortality Mutation Oligomers Patients Proteins R&D Research & development
Online-Zugang:	Volltext
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