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Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy

Certain loss-of-function mutations in the gene encoding the lysine catabolic enzyme aldehyde dehydrogenase 7A1 (ALDH7A1) cause pyridoxine-dependent epilepsy (PDE). Missense mutations of Glu427, especially Glu427Gln, account for ~30% of the mutated alleles in PDE patients, and thus Glu427 has been re...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Inherit Metab Dis
Egile Nagusiak: Laciak, Adrian R., Korasick, David A., Gates, Kent S., Tanner, John J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7182499/
https://ncbi.nlm.nih.gov/pubmed/31652343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12184
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