Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings. - Wikidata - wikimedia - TriplyDB

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

http://www.wikidata.org/entity/Q37707140

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Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

http://www.wikidata.org/entity/Q37707140

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 14 June 2016

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vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

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name

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

@en

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

@nl

type

label

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

@en

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

@nl

prefLabel

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

@en

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

@nl

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Journal of Inherited Metabolic Disorders Reports

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Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

@en

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Annely Richardson

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Cheryl Garganta

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Gerard T Berry

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Mary-Alice Abbott

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P2860

A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability

RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders

HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids

Hydroxysteroid (17β) dehydrogenase X in human health and disease

A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.

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25-32

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scholarly article

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10.1007/8904_2016_547

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32

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2016-06-14T00:00:00Z

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27295195

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