Human deafness dystonia syndrome is a mitochondrial disease (Q24652639)

Protein translocase subunit TIM13 YGR181W

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

mitochondrion

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deafness dystonia syndrome

inferred from title

1 reference

1 reference

C M Koehler

1

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D Leuenberger

2

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S Merchant

3

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A Renold

4

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T Junne

5

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G Schatz

Proceedings of the National Academy of Sciences of the United States of America

6

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language of work or name

English

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publication date

2 March 1999

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published in

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volume

96

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issue

5

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page(s)

2141-6

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cites work

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Tim9p, an essential partner subunit of Tim10p for the import of mitochondrial carrier proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Carrier protein import into mitochondria mediated by the intermembrane proteins Tim10/Mrs11 and Tim12/Mrs5.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Import of mitochondrial carriers mediated by essential proteins of the intermembrane space

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

The Tim54p-Tim22p complex mediates insertion of proteins into the mitochondrial inner membrane

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Import of carrier proteins into the mitochondrial inner membrane mediated by Tim22.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

New heterologous modules for classical or PCR-based gene disruptions in Saccharomyces cerevisiae

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Functional analysis of human mitochondrial receptor Tom20 for protein import into mitochondria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

A Gene Map of the Human Genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Protein import into mitochondria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Common principles of protein translocation across membranes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Analysis of molecular masses and oligomeric states of protein complexes by blue native electrophoresis and isolation of membrane protein complexes by two-dimensional native electrophoresis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Mitochondrial dysfunction in neurodegenerative disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

trans-Golgi retention of a plasma membrane protein: mutations in the cytoplasmic domain of the asialoglycoprotein receptor subunit H1 result in trans-Golgi retention

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Mitochondrial DNA mutations in human degenerative diseases and aging

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Protein translocation across mitochondrial membranes: What a long, strange trip it is

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

28 September 2017

The Tom and Tim machine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Human genetic diseases: a cross-talk between man and yeast

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26750

Isolation of highly purified mitochondria from Saccharomyces cerevisiae

30 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10051608

12 December 2020

inferred from PubMed ID database lookup

Vectors for constitutive and inducible gene expression in yeast

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10051608

12 December 2020

inferred from PubMed ID database lookup

Mitochondrial import: crossing the aqueous intermembrane space

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10051608

12 December 2020

inferred from PubMed ID database lookup

Genome maps 7. The human transcript map. Wall chart

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.96.5.2141

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1073/PNAS.96.5.2141

1 reference

ADS bibcode

1999PNAS...96.2141K

0 references

1 reference

1 reference

PubMed publication ID

10051608

1 reference