Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction (Q35113387)

6 August 2017

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title

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

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6 August 2017

Carla Giordano

2

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Valerio Carelli

object named as

Valerio Carelli

series ordinal

1

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author name string

Giulia d'Amati

series ordinal

3

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6 August 2017

1 May 2003

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6 August 2017

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6 August 2017

19

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6 August 2017

5

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6 August 2017

257-262

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Sequence and organization of the human mitochondrial genome

6 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Mitochondrial DNA mutations in human disease.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Mitochondrial diseases in man and mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Chapter 4 Leber's Hereditary Optic Neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Mitochondrial defects and hearing loss

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Sensorineural deafness inherited as a tissue specific mitochondrial disorder

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Candidate locus for a nuclear modifier gene for maternally inherited deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Regulation of cardiac myocyte protein turnover and myofibrillar structure in vitro by specific directions of stretch

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Optic neuropathy induced by reductions in mitochondrial superoxide dismutase

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Estrogen receptor-mediated neuroprotection from oxidative stress requires activation of the mitogen-activated protein kinase pathway

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Invited review: Estrogens effects on the brain: multiple sites and molecular mechanisms

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Mitochondria, the killer organelles and their weapons

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

A nuclear modifier for a mitochondrial DNA disorder.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Cardiomyopathies: from genetics to the prospect of treatment

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Modifier genes for hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Systematic screen for human disease genes in yeast

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

MitoDrome: a database of Drosophila melanogaster nuclear genes encoding proteins targeted to the mitochondrion

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Simultaneous transfer of mitochondrial DNA and single chromosomes in somatic cells: a novel approach for the study of defects in nuclear-mitochondrial communication

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900072-6

7 January 2021

10.1016/S0168-9525(03)00072-6

Identifiers

DOI

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6 August 2017

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PubMed ID

12711217