Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. (Q30366542)

13 October 2017

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. (English)

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ethylmalonic encephalopathy

13 October 2017

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5

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13 October 2017

6

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13 October 2017

Jane H Frederiksen

4

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Tânia G Lucas

Tânia G Lucas

2

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Bárbara J. Henriques

Bárbara J Henriques

1

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João V. Rodrigues

João V Rodrigues

3

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Cláudio M. Gomes

Cláudio M Gomes

8

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Peter Bross

Peter Bross

7

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language of work or name

English

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publication date

8 September 2014

1 reference

13 October 2017

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13 October 2017

9

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13 October 2017

9

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13 October 2017

e107157

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Creative Commons Attribution 4.0 International

13 October 2017

start time

8 September 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

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Ethylmalonic encephalopathy: clinical and biochemical observations

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Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

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Studies on the degradation pathway of iron-sulfur centers during unfolding of a hyperstable ferredoxin: cluster dissociation, iron release and protein stability

21 January 2018

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21 January 2018

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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25198162

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A SIMPLE SERUM IRON METHOD USING THE NEW SENSITIVE CHROMOGEN TRIPYRIDYL-S-TRIAZINE

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25198162

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0107157

1 reference

13 October 2017

0 references

1 reference

13 October 2017

1 reference

PMCID

4157841