Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy (Q28306500)

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

inferred from title

corrigendum / erratum

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Ivano Di Meo

4

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Alessandro Prelle

Alessandro Prelle

8

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Valeria Tiranti

Valeria Tiranti

1

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Massimo Zeviani

11

Massimo Zeviani

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Gigliola Fagiolari

9

Gigliola Fagiolari

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Carlo Viscomi

2

Carlo Viscomi

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author name string

Tatjana Hildebrandt

3

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Rossana Mineri

5

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Cecilia Tiveron

6

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Michael D Levitt

7

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Marco Rimoldi

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism

10

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language of work or name

English

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publication date

February 2009

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published in

Nature Medicine

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volume

15

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issue

2

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page(s)

200-5

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cites work

1 reference

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

21 April 2017

1 reference

ETHE1 mutations are specific to ethylmalonic encephalopathy

21 April 2017

1 reference

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

21 April 2017

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The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions.

21 April 2017

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Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database

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Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

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Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

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Expansion of the zinc metallo-hydrolase family of the beta-lactamase fold

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A novel protein overexpressed in hepatoma accelerates export of NF-kappa B from the nucleus and inhibits p53-dependent apoptosis

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p53: new roles in metabolism

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Nuclear receptors and other nuclear transcription factors in mitochondria: regulatory molecules in a new environment.

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Structure of an ETHE1-like protein from Arabidopsis thaliana

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Hydrogen sulphide and its therapeutic potential

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Adaptative metabolic response of human colonic epithelial cells to the adverse effects of the luminal compound sulfide.

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Cytochrome oxidase inhibition induced by acute hydrogen sulfide inhalation: correlation with tissue sulfide concentrations in the rat brain, liver, lung, and nasal epithelium.

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Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

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Colonic sulfide in pathogenesis and treatment of ulcerative colitis

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Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria.

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Sulfide, the first inorganic substrate for human cells

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Sulfide : quinone oxidoreductase (SQR) from the lugworm Arenicola marina shows cyanide- and thioredoxin-dependent activity.

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Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

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Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase

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Whole tissue hydrogen sulfide concentrations are orders of magnitude lower than presently accepted values

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Clinical and molecular findings in children with complex I deficiency

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An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study

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New clinical phenotype of branched-chain acyl-CoA oxidation defect

21 January 2018

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12 December 2020

Oxidation of hydrogen sulfide and methanethiol to thiosulfate by rat tissues: a specialized function of the colonic mucosa

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12 December 2020

Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally

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12 December 2020

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

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12 December 2020

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

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12 December 2020

Production of the gaseous signal molecule hydrogen sulfide in mouse tissues

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12 December 2020

Sulfate: turbidimetric and nephelometric methods

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12 December 2020

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

1 reference

12 December 2020

Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice

1 reference

12 December 2020

A simple screening test for sulfite oxidase deficiency: Detection of urinary thiosulfate by a modification of sörbo's method

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Effects of protein, methionine, or chloride on acid-base balance and on cysteine catabolism

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Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

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7 January 2021