A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation (Q28082057)

Ye Chen

series ordinal

2

1 reference

Min-Xin Guan

series ordinal

3

1 reference

language of work or name

1 reference

December 2015

1 reference

1 December 2015

9 references

24 March 2019

20 June 2019

30 June 2019

2 August 2019

14 September 2019

12 October 2019

20 September 2020

6 November 2020

4 May 2021

10 references

24 March 2019

20 June 2019

30 June 2019

2 August 2019

14 September 2019

12 October 2019

20 September 2020

6 November 2020

4 May 2021

6

1 reference

issue

12

1 reference

page(s)

862-70

1 reference

Creative Commons Attribution 4.0 International

copyright license

9 references

24 March 2019

20 June 2019

30 June 2019

2 August 2019

14 September 2019

12 October 2019

20 September 2020

6 November 2020

on focus list of Wikimedia project

4 May 2021

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s13238-015-0175-z

0 references

cites work

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

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Mitochondrial DNA mutations in human disease

20 March 2017

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

20 March 2017

1 reference

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Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

20 March 2017

1 reference

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Declining NAD(+) induces a pseudohypoxic state disrupting nuclear-mitochondrial communication during aging

20 March 2017

1 reference

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Mitochondria: dynamic organelles in disease, aging, and development

20 March 2017

1 reference

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The BCL-2 protein family: opposing activities that mediate cell death

20 March 2017

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A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

7 April 2017

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7 April 2017

Mitochondria and cancer

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Mitochondria: in sickness and in health

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

7 April 2017

1 reference

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Mitochondrial respiratory-chain diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Maternally transmitted mitochondrial DNA mutations can reduce lifespan

7 April 2017

1 reference

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Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

29 September 2017

1 reference

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Genetic modifiers of Huntington's disease

29 September 2017

1 reference

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The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Transfer RNA and human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Mitochondrial pathology: stress signals from the energy factory

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

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

29 September 2017

1 reference

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Muscle mitohormesis promotes longevity via systemic repression of insulin signaling

29 September 2017

1 reference

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Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.

29 September 2017

1 reference

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Mitochondrial retrograde signaling at the crossroads of tumor bioenergetics, genetics and epigenetics

29 September 2017

1 reference

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Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Signaling the mitochondrial unfolded protein response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Monogenic mitochondrial disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness

29 September 2017

1 reference

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Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Extended guidelines for mtDNA typing of population data in forensic science

29 September 2017

1 reference

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Calcium cycling and signaling in cardiac myocytes.

29 September 2017

1 reference

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Mitochondrial-nuclear communications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Mitochondria-to-nucleus stress signaling in mammalian cells: nature of nuclear gene targets, transcription regulation, and induced resistance to apoptosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Two direct repeats cause most human mtDNA deletions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Mitochondrial signaling: the retrograde response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Mitochondria: releasing power for life and unleashing the machineries of death

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

CREB activation induced by mitochondrial dysfunction is a new signaling pathway that impairs cell proliferation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

The mitochondrial genotype can influence nuclear gene expression in yeast.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4656216

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

2 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13238-015-0175-Z

The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13238-015-0175-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13238-015-0175-Z

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13238-015-0175-Z

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/26084519

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26084519

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S13238-015-0175-Z

1 reference

Dimensions Publication ID

4042468

1026824811

0 references

Fatcat ID

release_2yry3ctfwfewrbp5d3cynbjese

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2yry3ctfwfewrbp5d3cynbjese

mapped directly with Wikidata item

24 November 2022

based on heuristic

4042468

1 reference

1 reference

1 reference