Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1-Reference-Cited by-同舟云学术

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Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1

Published:2024-05 Issue: Volume:394 Page:110993
ISSN:0009-2797
Container-title:Chemico-Biological Interactions
language:en
Short-container-title:Chemico-Biological Interactions

Author:

Korasick David A.,Buckley David P.,Palpacelli Alessandra,Cursio Ida,Cesaroni Elisabetta,Cheng Jianlin,Tanner John J.^ORCID

Funder

Office of Science

National Science Foundation

National Institutes of Health

National Institute of General Medical Sciences

Publisher

Elsevier BV

Reference72 articles.

1. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy;Coughlin;J. Inherit. Metab. Dis.,2019

2. Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy;Tamaura;Brain Dev.,2015

3. Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation;Haidar;ALDH7A1, Seizure,2018

4. Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function;Korasick;Biochimie,2021

5. Simultaneous detection of lysine metabolites by a single LC-MS/MS method: monitoring lysine degradation in mouse plasma;Pena;SpringerPlus,2016

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