Mitochondrial mosaics in the liver of 3 infants with mtDNA defects - sprookjes - yvandenbroek - TriplyDB

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

http://www.wikidata.org/entity/Q33461789

about

QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.Phylogenetic analysis of mitochondrial DNA in a patient with Kearns-Sayre syndrome containing a novel 7629-bp deletion.Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.

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P2860

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

http://www.wikidata.org/entity/Q33461789

description

2009 nî lūn-bûn

@nan

2009 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

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Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

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type

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Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

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Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

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Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

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Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

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BMC Clinical Pathology

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Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

@en

P2093

Baudouin François

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Boel De Paepe

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Emmanuel Scalais

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Frank Roels

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François Eyskens

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Gert Van Goethem

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Jean-Jacques Martin

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Marc Espeel

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Marleen Praet

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Patrick Verloo

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Visualization of peroxisomes (microbodies) and mitochondria with diaminobenzidine.

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4

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scholarly article

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10.1186/1472-6890-9-4

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9

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1015552073

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2706255

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