Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy (Q35076141)

6 August 2017

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy (English)

1 reference

6 August 2017

Luca Giordano

3

0 references

Alessandra Maresca

Alessandra Maresca

4

0 references

Francesca Fanelli

Francesca Fanelli

11

0 references

Leonardo Caporali

Leonardo Caporali

7

0 references

Luisa Iommarini

Luisa Iommarini

2

0 references

Maria Lucia Valentino

Maria Lucia Valentino

6

0 references

Carla Giordano

Carla Giordano

1

0 references

Adriana Berezovsky

Adriana Berezovsky

21

0 references

Rocco Liguori

Rocco Liguori

8

0 references

Valerio Carelli

Valerio Carelli

35

0 references

Dora F. Ventura

Dora Fix Ventura

23

0 references

Angela Pyle

16

Angela Pyle

1 reference

6 August 2017

17

Patrick Yu-Wai-Man

1 reference

6 August 2017

18

Patrick F Chinnery

1 reference

6 August 2017

19

Massimo Zeviani

1 reference

6 August 2017

26

Piero Barboni

1 reference

6 August 2017

27

Federico Sadun

1 reference

6 August 2017

20

Solange R Salomao

1 reference

6 August 2017

15

Gavin Hudson

1 reference

6 August 2017

Annalinda Pisano

5

1 reference

6 August 2017

Stefania Deceglie

9

1 reference

6 August 2017

Marina Roberti

10

1 reference

6 August 2017

Flavio Fracasso

12

1 reference

6 August 2017

Fred N Ross-Cisneros

13

1 reference

6 August 2017

Pio D'Adamo

14

1 reference

6 August 2017

Rubens Belfort

22

1 reference

6 August 2017

Milton Moraes

24

1 reference

6 August 2017

Milton Moraes Filho

25

1 reference

6 August 2017

Annamaria De Negri

28

1 reference

6 August 2017

Alfredo A Sadun

29

1 reference

6 August 2017

Andrea Tancredi

30

1 reference

6 August 2017

Massimiliano Mancini

31

1 reference

6 August 2017

Giulia d'Amati

32

1 reference

6 August 2017

Paola Loguercio Polosa

33

1 reference

6 August 2017

Palmiro Cantatore

34

1 reference

6 August 2017

language of work or name

English

0 references

publication date

24 December 2013

1 reference

6 August 2017

1 reference

6 August 2017

137

1 reference

6 August 2017

335-353

1 reference

6 August 2017

Pt 2

1 reference

Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Mitochondrial transcription factor A regulates mitochondrial transcription initiation, DNA packaging, and genome copy number

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Mitochondrial complex I and cell death: a semi-automatic shotgun model

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Genetic variation in PARL influences mitochondrial content

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Emerging roles of mitochondrial proteases in neurodegeneration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Ancient mtDNA genetic variants modulate mtDNA transcription and replication

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Transcriptional paradigms in mammalian mitochondrial biogenesis and function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

The isolation of nucleic acids from fixed, paraffin-embedded tissues-which methods are useful when?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Mitochondrial retrograde signaling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Novel role of p53 in maintaining mitochondrial genetic stability through interaction with DNA Pol gamma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Mitochondrial dysfunction as a cause of optic neuropathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Increased mitochondrial mass in mitochondrial myopathy mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Length heteroplasmy in the first hypervariable segment of the human mtDNA control region

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Increased mitochondrial DNA content in peripheral blood lymphocytes from HIV-infected patients with lipodystrophy

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

27 September 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914475

25 October 2018

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT343

Genetic determinants of mitochondrial content

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT343

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT343

No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT343

Molecular Phenotype of the np 7472 Deafness-Associated Mitochondrial Mutation in Osteosarcoma Cell Cybrids

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24369379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The epidemiology of pathogenic mitochondrial DNA mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24369379

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWT343

1 reference

6 August 2017

1 reference

6 August 2017

1 reference