(Q34837616)

4 August 2017

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice (English)

1 reference

4 August 2017

0 references

1 reference

Erika Fernandez-Vizarra

Erika Fernandez-Vizarra

4

0 references

Antonella Spinazzola

Antonella Spinazzola

2

0 references

Roberto Vettor

Roberto Vettor

7

0 references

Marina Mora

Marina Mora

8

0 references

Massimo Zeviani

9

Massimo Zeviani

1 reference

4 August 2017

Claudio Pagano

6

1 reference

ORCID Public Data File 2021

Carlo Viscomi

1

Carlo Viscomi

1 reference

4 August 2017

Marco Maggioni

3

1 reference

PubMed ID

18818194

4 August 2017

Valeria Massa

5

1 reference

4 August 2017

24 September 2008

1 reference

4 August 2017

Human Molecular Genetics

1 reference

4 August 2017

18

1 reference

4 August 2017

12-26

1 reference

4 August 2017

1

1 reference

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient 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=2644642

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=2644642

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Localization in stereocilia, plasma membrane, and mitochondria suggests diverse roles for NMHC-IIa within cochlear hair 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=2644642

Inherited diseases of the glomerular basement membrane

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

MTERF3 is a negative regulator of mammalian mtDNA transcription

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Disorders of nuclear-mitochondrial intergenomic communication

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Indispensable role of Bcl2 in the development of the melanocyte stem cell

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Nuclear control of respiratory gene expression in mammalian 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=2644642

Abnormal basement membrane in the inner ear and the kidney of the Mpv17-/- mouse strain: ultrastructural and immunohistochemical investigations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Renal disease and mitochondrial genetics.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Graying: gerontobiology of the hair follicle pigmentary unit

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Glomerular overproduction of oxygen radicals in Mpv17 gene-inactivated mice causes podocyte foot process flattening and proteinuria: A model of steroid-resistant nephrosis sensitive to radical scavenger therapy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial 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=2644642

Expression of the recessive glomerulosclerosis gene Mpv17 regulates MMP-2 expression in fibroblasts, the kidney, and the inner ear of 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=2644642

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in 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=2644642

The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Identification of initiation sites for heavy-strand and light-strand transcription in human mitochondrial DNA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Transgenic mouse model of kidney disease: Insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Acromutilating, Paralyzing Neuropathy With Corneal Ulceration in Navajo Children

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2644642

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

8 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Quantitative change in mitochondrial DNA content in various mouse tissues during aging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

The pattern of transcription of the human mitochondrial rRNA genes reveals two overlapping transcription units

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Mitochondrial dysfunction in focal segmental glomerulosclerosis of puromycin aminonucleoside nephrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Mitochondrial gene expression is regulated at multiple levels and differentially in the heart and liver by thyroid hormones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN309

Termination factor-mediated DNA loop between termination and initiation sites drives mitochondrial rRNA synthesis

21 January 2018

1 reference

12 December 2020

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

12 December 2020

Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians

1 reference

12 December 2020

Age-dependent hypertension in Mpv17-deficient mice, a transgenic model of glomerulosclerosis and inner ear disease

1 reference

12 December 2020

Course of renal injury in the Mpv17-deficient transgenic mouse

1 reference

12 December 2020

Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

1 reference

12 December 2020

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

1 reference

12 December 2020

The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies

1 reference

12 December 2020

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

1 reference

12 December 2020

Inner ear defect similar to Alport's syndrome in the glomerulosclerosis mouse model Mpv17

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDN309

1 reference

4 August 2017

1 reference

4 August 2017

1 reference

PubMed ID

18818194