Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability-Reference-Cited by-同舟云学术

Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability

Published:2018-07 Issue:3 Volume:124 Page:210-215
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Menduti Giovanna,Biamino Elisa,Vittorini Roberta^ORCID,Vesco Serena,Puccinelli Maria Paola,Porta Francesco,Capo Concetta,Leo Sara,Ciminelli Bianca Maria,Iacovelli Federico^ORCID,Spada Marco,Falconi Mattia,Malaspina Patrizia^ORCID,Rossi Luisa^ORCID

Publisher

Elsevier BV

Subject

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

Reference35 articles.

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3. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency;Malaspina;Hum. Genomics.,2009

4. Succinic semialdehyde dehydrogenase deficiency (SSADHD): pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism;Malaspina;Neurochem. Int.,2016

5. Redox-switch modulation of human SSADH by dynamic catalytic loop;Kim;EMBO J.,2009

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