Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)-Reference-Cited by-同舟云学术

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Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

Published:2008-09-04 Issue:24 Volume:17 Page:3854-3863
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Keyser B.,Muhlhausen C.,Dickmanns A.,Christensen E.,Muschol N.,Ullrich K.,Braulke T.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/17/24/3854/1480587/ddn284.pdf

Reference23 articles.

1. The Function of Arg-94 in the Oxidation and Decarboxylation of Glutaryl-CoA by Human Glutaryl-CoA Dehydrogenase

2. Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

3. Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

4. Neonatal screening for glutaryl-CoA dehydrogenase deficiency

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2. Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application;Genes;2023-12-14

3. Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1;International Journal of Molecular Sciences;2023-08-24

4. Proteomic Profiling of Extracellular Vesicles Isolated from Plasma and Peritoneal Exudate in Mice Induced by Crotalus scutulatus scutulatus Crude Venom and Its Purified Cysteine-Rich Secretory Protein (Css-CRiSP);Toxins;2023-07-02

5. Lysine catabolism reprograms tumour immunity through histone crotonylation;Nature;2023-05-17

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