(Q47037351)

English

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts

scientific article published on 18 February 2014

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scholarly article

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Europe PubMed Central

PubMed publication ID

4 January 2018

http://europepmc.org/abstract/MED/24549042

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 January 2018

http://europepmc.org/abstract/MED/24549042

Hydroxysteroid 17-beta dehydrogenase 10

1 reference

GOA release 2020-03-11

mitochondrial tRNA 5'-end processing

1 reference

GOA release 2020-03-11

Johannes A Mayr

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Stephanie Oerum

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Andrea J Deutschmann

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Albert Amberger

2

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Claudia Zavadil

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Herbert Steinbeisser

4

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

René G Feichtinger

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Wyatt W Yue

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Johannes Zschocke

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

publication date

18 February 2014

1 reference

Europe PubMed Central

PubMed publication ID

4 January 2018

http://europepmc.org/abstract/MED/24549042

Human Molecular Genetics

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

23

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Europe PubMed Central

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6 June 2020

13

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Europe PubMed Central

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6 June 2020

3618-3628

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Moonlighting is mainstream: paradigm adjustment required

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

tRNA recognition, processing, and disease: hypotheses around an unorthodox type of RNase P in human mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

A new mathematical model for relative quantification in real-time RT-PCR

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

RNA processing in human mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Roles of type 10 17beta-hydroxysteroid dehydrogenase in intracrinology and metabolism of isoleucine and fatty acids

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Mitochondrial quality control: an integrated network of pathways

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Structures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Human RNase H1 is associated with protein P32 and is involved in mitochondrial pre-rRNA processing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

GRSF1 regulates RNA processing in mitochondrial RNA granules.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

A single Arabidopsis organellar protein has RNase P activity.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU072

21 January 2018

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

1 reference

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21 January 2018

Determination of stable housekeeping genes, differentially regulated target genes and sample integrity: BestKeeper – Excel-based tool using pair-wise correlations

1 reference

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21 January 2018

The Dickkopf-homolog 3 is expressed in tumor endothelial cells and supports capillary formation

1 reference

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21 January 2018

Identifiers

10.1093/HMG/DDU072

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549042%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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