(Q41772481)

9 October 2017

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment (English)

1 reference

9 October 2017

Patrick N Harter

15

0 references

Rita Horvath

object named as

Rita Horvath

10

0 references

Michel Mittelbronn

17

object named as

Michel Mittelbronn

1 reference

9 October 2017

9

Angela Abicht

1 reference

9 October 2017

4

Ilka Wittig

1 reference

9 October 2017

3

Klaus Müller

1 reference

9 October 2017

8

Stephanie Kleinle

1 reference

9 October 2017

Anne K Braczynski

1

1 reference

9 October 2017

Stefan Vlaho

2

1 reference

9 October 2017

Anna-Eva Blank

5

1 reference

9 October 2017

Dominique S Tews

6

1 reference

9 October 2017

Ulrich Drott

7

1 reference

9 October 2017

Karl H Plate

11

1 reference

9 October 2017

Werner Stenzel

12

1 reference

9 October 2017

Hans H Goebel

13

1 reference

9 October 2017

Andreas Schulze

14

1 reference

9 October 2017

Matthias Kieslich

16

1 reference

9 October 2017

language of work or name

English

0 references

publication date

13 October 2015

1 reference

BioMed Research International

9 October 2017

1 reference

9 October 2017

2015

1 reference

9 October 2017

462592

1 reference

Creative Commons Attribution 3.0 Unported

9 October 2017

start time

1 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

TMEM70 deficiency: long-term outcome of 48 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Mitochondria and mitophagy: the yin and yang of cell death control

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

A role for mitochondria in NLRP3 inflammasome activation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Expression and processing of the TMEM70 protein

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Loss of PINK1 causes mitochondrial functional defects and increased sensitivity to oxidative stress

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

The in-depth evaluation of suspected mitochondrial disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Ultrastructure of blood-brain barrier and blood-spinal cord barrier in SOD1 mice modeling ALS.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Structural changes linked to proton translocation by subunit c of the ATP synthase

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Molecular architecture of the rotary motor in ATP synthase

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Coupling between catalytic sites and the proton channel in F1F0-type ATPases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Has the endosymbiont hypothesis been proven?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

The mitochondrial electron transport and oxidative phosphorylation system

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Acetyl-L-carnitine and lipoic acid improve mitochondrial abnormalities and serum levels of liver enzymes in a mouse model of nonalcoholic fatty liver disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

High resolution clear native electrophoresis for in-gel functional assays and fluorescence studies of membrane protein complexes.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Mitochondrial recycling and aging of cardiac myocytes: the role of autophagocytosis

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

Ultrastructural study of mother and daughter muscle changes with mitochondrial encephalomyopathy.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621340

18 August 2018

The Mitochondria Problem

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2015%2F462592

The petite mutation in yeast. Loss of mitochondrial deoxyribonucleic acid during induction of petites with ethidium bromide

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26550569

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26550569

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26550569

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1155/2015/462592

1 reference

9 October 2017

1 reference

9 October 2017

PubMed publication ID

26550569

1 reference