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MED12 wt Allele

Known as: CAGH45, TRAP230, Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog (S. cerevisiae) Gene 
Human MED12 wild-type allele is located in the vicinity of Xq13 and is approximately 24 kb in length. This allele, which encodes mediator of RNA… Expand
National Institutes of Health

Related topics

Related topics

8 relations
Homo sapiensMediator of RNA Polymerase II Transcription Subunit 12Signal TransductionTranscription Initiation
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Broader (1)

MED12 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation… Expand
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2015
2015
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction
OBJECTIVE OPA1 mutations are responsible for more than half of autosomal dominant optic atrophy (ADOA), a blinding disease… Expand
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Highly Cited
2013
Highly Cited
2013
OPA1 loss of function affects in vitro neuronal maturation.
Mitochondrial dynamics control the organelle's morphology, with fusion leading to the formation of elongated tubules and fission… Expand
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Highly Cited
2012
Highly Cited
2012
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been… Expand
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Highly Cited
2009
Highly Cited
2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic… Expand
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Highly Cited
2009
Highly Cited
2009
Memantine blocks mitochondrial OPA1 and cytochrome c release and subsequent apoptotic cell death in glaucomatous retina.
PURPOSE To determine whether intraocular pressure (IOP) elevation alters OPA1 expression and triggers OPA1 release, as well as… Expand
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Highly Cited
2008
Highly Cited
2008
Amyloid-β overproduction causes abnormal mitochondrial dynamics via differential modulation of mitochondrial fission/fusion proteins
Mitochondrial dysfunction is a prominent feature of Alzheimer disease but the underlying mechanism is unclear. In this study, we… Expand
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Highly Cited
2008
Highly Cited
2008
Characterization of OPA1 isoforms isolated from mouse tissues.
OPA1, a nuclear encoded mitochondrial protein causing autosomal dominant optic atrophy, is a key player in mitochondrial fusion… Expand
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Highly Cited
2006
Highly Cited
2006
Proteolytic Processing of OPA1 Links Mitochondrial Dysfunction to Alterations in Mitochondrial Morphology*
Many muscular and neurological disorders are associated with mitochondrial dysfunction and are often accompanied by changes in… Expand
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2004
2004
OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina.
PURPOSE Autosomal dominant optic atrophy is a hereditary disorder characterized by progressive loss of vision and caused by… Expand
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