Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

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Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency

Published:2020-06 Issue:6 Volume:1868 Page:140393
ISSN:1570-9639
Container-title:Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics

Author:

Lucas Tânia G.,Henriques Bárbara J.,Gomes Cláudio M.

Funder

Fundação para a Ciência e Tecnologia

B.J.H

Publisher

Elsevier BV

Subject

Molecular Biology,Biochemistry,Biophysics,Analytical Chemistry

Reference45 articles.

1. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene;Goodman;Mol. Genet. Metab.,2002

2. Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency;Henriques;Biochim. Biophys. Acta,2010

3. Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes;Loehr;Pediatr. Res.,1990

4. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency;Grunert;Orphanet J. Rare Dis.,2014

5. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency;Olsen;Hum. Mutat.,2003

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3. Host–Guest Encapsulation of RIBO with TSC4X: Synthesis, Characterization, and Its Application by Physicochemical and Computational Investigations;ACS Omega;2023-02-07

4. The use of pharmacological chaperones in rare diseases caused by reduced protein stability;PROTEOMICS;2022-10-19

5. A single evolutionarily divergent mutation determines the different FAD‐binding affinities of human and rat NQO1 due to site‐specific phosphorylation;FEBS Letters;2021-12-09

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