Ethylmalonic Encephalopathy ETHE1 R163W/R163Q Mutations Alter Protein Stability and Redox Properties of the Iron Centre-Reference-Cited by-同舟云学术

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Ethylmalonic Encephalopathy ETHE1 R163W/R163Q Mutations Alter Protein Stability and Redox Properties of the Iron Centre

Published:2014-09-08 Issue:9 Volume:9 Page:e107157
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Henriques Bárbara J.,Lucas Tânia G.,Rodrigues João V.,Frederiksen Jane H.,Teixeira Miguel S.,Tiranti Valeria,Bross Peter,Gomes Cláudio M.

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference25 articles.

1. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein;V Tiranti;Am J Hum Genet,2004

2. Altered Sulfide (H2S) Metabolism in Ethylmalonic Encephalopathy;V Tiranti;Cold Spring Harb Perspect Biol,2013

3. Hydrogen sulfide, the next potent preventive and therapeutic agent in aging and age-associated diseases;Y Zhang;Mol Cell Biol,2013

4. Gasotransmitters: growing pains and joys;R Wang;Trends Biochem Sci,2014

5. Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria;TM Hildebrandt;FEBS J,2008

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

4. Case Series of Ethylmalonic Encephalopathy from Southern India;Journal of Pediatric Genetics;2021-12-06

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