(Q36365647)

13 August 2017

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss (English)

1 reference

13 August 2017

1 reference

19

1 reference

13 August 2017

8

Gudrun Nürnberg

0 references

Christian Kubisch

24

Christian Kubisch

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Simon von Ameln

Simon von Ameln

1

0 references

Mark A. Rutherford

Mark A Rutherford

4

0 references

Peter Nürnberg

15

Peter Nürnberg

1 reference

13 August 2017

Matthias Hammerschmidt

18

Matthias Hammerschmidt

1 reference

13 August 2017

20

Bernd Wollnik

1 reference

13 August 2017

21

Carla M Koehler

1 reference

13 August 2017

23

Abdelhamid Barakat

1 reference

13 August 2017

14

Omar Abidi

1 reference

13 August 2017

3

Redouane Boulouiz

1 reference

13 August 2017

Geng Wang

2

1 reference

13 August 2017

Geoffrey M Smith

5

1 reference

13 August 2017

Yun Li

6

1 reference

13 August 2017

Hans-Martin Pogoda

7

1 reference

13 August 2017

Barbara Stiller

9

1 reference

13 August 2017

Alexander E Volk

10

1 reference

13 August 2017

Guntram Borck

11

1 reference

13 August 2017

Jason S Hong

12

1 reference

13 August 2017

Richard J Goodyear

13

1 reference

13 August 2017

Kay Hofmann

16

1 reference

13 August 2017

Guy P Richardson

17

1 reference

13 August 2017

Michael A Teitell

22

1 reference

13 August 2017

language of work or name

English

0 references

publication date

18 October 2012

1 reference

American Journal of Human Genetics

13 August 2017

1 reference

13 August 2017

91

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13 August 2017

919-927

1 reference

13 August 2017

5

1 reference

Monogenic mitochondrial disorders

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

PNPASE and RNA trafficking into mitochondria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Biological significance of 5S rRNA import into human mitochondria: role of ribosomal protein MRP-L18

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

A protein shuttle system to target RNA into mitochondria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Hearing impairment: a panoply of genes and functions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

PNPASE regulates RNA import into mitochondria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Mitochondrial enzyme rhodanese is essential for 5 S ribosomal RNA import into human mitochondria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Importing mitochondrial proteins: machineries and mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Protein structure prediction on the Web: a case study using the Phyre server

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Polynucleotide phosphorylase protects Escherichia coli against oxidative stress

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Crystal structure of Escherichia coli PNPase: Central channel residues are involved in processive RNA degradation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Analysis of the human polynucleotide phosphorylase (PNPase) reveals differences in RNA binding and response to phosphate compared to its bacterial and chloroplast counterparts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Human polynucleotide phosphorylase: location matters

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Mitochondrial protein import and human health and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Role of mitochondrial dysfunction and mitochondrial DNA mutations in age-related hearing loss

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Polynucleotide phosphorylase: an evolutionary conserved gene with an expanding repertoire of functions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Characterization of mouse endoplasmic reticulum methionine-R-sulfoxide reductase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Domain analysis of the chloroplast polynucleotide phosphorylase reveals discrete functions in RNA degradation, polyadenylation, and sequence homology with exosome proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

RNA delivery into mitochondria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Polynucleotide phosphorylase and ribonuclease II are required for cell viability and mRNA turnover in Escherichia coli K-12.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

dino and mercedes, two genes regulating dorsal development in the zebrafish embryo.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Hair cell synaptic ribbons are essential for synchronous auditory signalling.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487123

Mitochondrial DNA and disease

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23084290

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial deafness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23084290

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.09.002

1 reference

13 August 2017

1 reference

13 August 2017

1 reference