Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
However, given its role in EE, the name of the gene has been changed to "ETHE1."
|
14732903 |
2004 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations to the hETHE1 gene compromise sulfide metabolism leading to the genetic disease ethylmalonic encephalopathy. hETHE1 is a mono-iron binding member of the metallo-β-lactamase (MBL) fold superfamily.
|
25596185 |
2015 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
ETHE1, result in ethylmalonic encephalopathy, an inborn error of metabolism.
|
23144459 |
2012 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on a 15-month-old male presenting with typical EE associated with a homozygous ETHE1 mutation.
|
20978941 |
2010 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H<sub>2</sub>S) detoxification.
|
29526615 |
2018 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To address this issue and to elicit how ETHE1 dysfunction results in EE, we have investigated two such pathological mutations, ETHE1-p.Arg163Gln and p.Arg163Trp.
|
25198162 |
2014 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defects in the gene encoding the persulfide dioxygenase ETHE1 are known to cause the severe inherited metabolic disorder ethylmalonic encephalopathy (EE).
|
27074420 |
2016 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We found that thiosulfate was excreted in massive amounts in urine of both Ethe1(-/-) mice and humans with ethylmalonic encephalopathy.
|
19136963 |
2009 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No ETHE1 mutations were identified in non-EE EMA patients.
|
16183799 |
2006 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the ETHE1 gene demonstrated homozygosity for the Arg163Gly mutation, confirming the diagnosis of EE at a molecular level.
|
17712735 |
2007 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
However, given its role in EE, the name of the gene has been changed to "ETHE1."
|
14732903 |
2004 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level.
|
22805253 |
2013 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder caused by mutations in the ETHE1 gene and characterized by chronic diarrhea, encephalopathy, relapsing petechiae and acrocyanosis.
|
22584649 |
2012 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
18593870 |
2008 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we will review two peculiar mitochondrial disorders, ethylmalonic encephalopathy (EE) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), caused by mutations in the ETHE1 and TYMP nuclear genes, respectively.
|
26194912 |
2015 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a mitochondrial matrix sulfur dioxygenase, leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues.
|
20657580 |
2010 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ethylmalonic encephalopathy (EE) is a rapidly progressive autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in the ETHE1 gene that encodes the mitochondrial sulfur dioxygenase.
|
30864297 |
2019 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
Encephalopathies
|
0.120 |
GeneticVariation
|
group |
BEFREE |
We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation.
|
26194623 |
2015 |
Encephalopathies
|
0.120 |
GeneticVariation
|
group |
BEFREE |
To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA).
|
16183799 |
2006 |
Ethylmalonic encephalopathy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deficiency of the sulfide metabolizing protein ETHE1 is the cause of ethylmalonic encephalopathy (EE), an inherited and severe metabolic disorder.
|
21410200 |
2011 |
Ethylmalonic encephalopathy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Tissue-specific ablation of Ethe1 causes COX deficiency in targeted organs, suggesting that failure in neutralizing endogenous, tissue-specific production of H(2)S is sufficient to cause the biochemical defect but neither to determine a clinical impact nor to induce the biomarker profile typical of EE.
|
20812865 |
2011 |
Ethylmalonic encephalopathy
|
1.000 |
Biomarker
|
disease |
BEFREE |
By studying a suitable mouse model, we found that loss of ETHE1 leads to accumulation of sulphide, which is a poison for COX and other enzymatic activities thus accounting for the main features of EE.
|
22020834 |
2012 |
Ethylmalonic encephalopathy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |