Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy (Q34734718)

4 August 2017

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

1 reference

4 August 2017

Eleonora Lamantea

3

0 references

Daria Diodato

Daria Diodato

1

0 references

Federica Invernizzi

Federica Invernizzi

2

0 references

Rossella Parini

Rossella Parini

5

0 references

Daniele Ghezzi

Daniele Ghezzi

15

0 references

Holger Prokisch

Holger Prokisch

14

0 references

Massimo Zeviani

17

Massimo Zeviani

1 reference

4 August 2017

16

Costanza Lamperti

1 reference

4 August 2017

4

Gigliola Fagiolari

1 reference

4 August 2017

Filippo Maria Santorelli

12

Filippo M Santorelli

1 reference

4 August 2017

9

Elisabetta Pasquini

1 reference

4 August 2017

Francesca Menni

6

1 reference

4 August 2017

Giancarlo Parenti

7

1 reference

4 August 2017

Lina Bollani

8

1 reference

4 August 2017

Maria A Donati

10

1 reference

4 August 2017

Denise Cassandrini

11

1 reference

4 August 2017

Tobias B Haack

13

1 reference

4 August 2017

17 April 2014

1 reference

Journal of Inherited Metabolic Disorders Reports

4 August 2017

1 reference

4 August 2017

15

1 reference

4 August 2017

71-78

1 reference

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Mitochondrial ATP synthase: architecture, function and pathology.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Blue Native electrophoresis to study mitochondrial and other protein complexes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

The ATP synthase is involved in generating mitochondrial cristae morphology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Failure to assemble the alpha 3 beta 3 subcomplex of the ATP synthase leads to accumulation of the alpha and beta subunits within inclusion bodies and the loss of mitochondrial cristae in Saccharomyces cerevisiae.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Clinical and molecular findings in children with complex I deficiency

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

On the relationship between mitochondrial ATPase and the inner membrane

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270871

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

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24740313

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/24740313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24740313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2014_300

1 reference

4 August 2017

1 reference

4 August 2017

1 reference