Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency-Reference-Cited by-同舟云学术

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency

Published:2020-07 Issue:3 Volume:130 Page:172-178
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Pop Ana,Smith Desirée E.C.,Kirby Trevor,Walters Dana,Gibson K. Michael,Mahmoudi Soufiane,van Dooren Silvy J.M.,Kanhai Warsha A.,Fernandez-Ojeda Matilde R.,Wever Eric J.M.,Koster Janet,Waterham Hans R.,Grob Bram,Roos Birthe,Wamelink Mirjam M.C.,Chen Justin,Natesan Senthil,Salomons Gajja S.

Funder

National Institutes of Health, National Institute of Child Health and Development

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference44 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency;Akaboshi;Hum. Mutat.,2003

3. SSADH deficiency possibly associated with enzyme activity-reducing SNPs;Akiyama;Brain and Development,2016

4. Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene;Aoshima;Hum. Hered.,2002

5. Incidence and geographic distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency;Attri;JIMD Rep.,2017

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