Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy (Q31081831)

13 October 2017

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy (English)

1 reference

hereditary optic neuropathy

13 October 2017

0 references

1 reference

1

1 reference

PubMed publication ID

28 June 2017

4

1 reference

PubMed publication ID

28 June 2017

Chiara La Morgia

7

0 references

Anna Olivieri

Anna Olivieri

3

0 references

Luisa Iommarini

Luisa Iommarini

2

0 references

Antoine Moulignier

Antoine Moulignier

16

0 references

Maria Lucia Valentino

Maria Lucia Valentino

8

0 references

Dominique Bonneau

Dominique Bonneau

19

0 references

Fabio Pizza

Fabio Pizza

10

0 references

Pascal Reynier

Pascal Reynier

6

0 references

Rocco Liguori

Rocco Liguori

9

0 references

Valerio Carelli

Valerio Carelli

26

0 references

Massimo Zeviani

14

Massimo Zeviani

1 reference

13 October 2017

25

Antonio Torroni

1 reference

13 October 2017

Baharak Hooshiar Kashani

5

Baharak Hooshiar Kashani

1 reference

13 October 2017

11

Piero Barboni

1 reference

13 October 2017

15

Helene Dollfus

1 reference

13 October 2017

Patrizia Amati-Bonneau

24

Patrizia Amati-Bonneau

1 reference

13 October 2017

23

Bernd Wissinger

1 reference

13 October 2017

22

Sascha Fauser

1 reference

13 October 2017

Federico Sadun

12

1 reference

13 October 2017

Anna Maria De Negri

13

1 reference

13 October 2017

Ghislaine Ducos

17

1 reference

13 October 2017

Christophe Orssaud

18

1 reference

13 October 2017

Vincent Procaccio

20

1 reference

13 October 2017

Beate Leo-Kottler

21

1 reference

13 October 2017

language of work or name

English

0 references

publication date

3 August 2012

1 reference

13 October 2017

1 reference

13 October 2017

7

1 reference

13 October 2017

8

1 reference

13 October 2017

e42242

1 reference

Creative Commons Attribution 4.0 International

13 October 2017

start time

3 August 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.

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21 June 2018

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21 June 2018

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21 June 2018

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A method and server for predicting damaging missense mutations

21 June 2018

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Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation

21 June 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 June 2018

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Functional annotations improve the predictive score of human disease-related mutations in proteins

21 June 2018

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Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

21 June 2018

1 reference

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Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

21 June 2018

1 reference

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Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

21 June 2018

1 reference

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The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa

21 June 2018

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Mitochondrial abnormalities in patients with LHON-like optic neuropathies

21 June 2018

1 reference

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The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

21 June 2018

1 reference

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The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

21 June 2018

1 reference

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Mitochondrial dysfunction as a cause of optic neuropathies

21 June 2018

1 reference

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The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families

21 June 2018

1 reference

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The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

21 June 2018

1 reference

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Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Functional modules and structural basis of conformational coupling in mitochondrial complex I.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

mtDNA mutations that cause optic neuropathy: how do we know?

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3411744

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

25 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22879922

12 December 2020

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22879922

12 December 2020

T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family

1 reference

https://pubmed.ncbi.nlm.nih.gov/22879922

12 December 2020

mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population

1 reference

https://pubmed.ncbi.nlm.nih.gov/22879922

12 December 2020

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

1 reference

https://pubmed.ncbi.nlm.nih.gov/22879922

12 December 2020

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22879922

12 December 2020

Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22879922

12 December 2020

Leber's disease and dystonia: a mitochondrial disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22879922

12 December 2020

10.1371/JOURNAL.PONE.0042242

Identifiers

DOI

1 reference

13 October 2017

0 references

1 reference

13 October 2017

PubMed publication ID

22879922

1 reference