Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice (Q34837616)

4 August 2017

title

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

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Antonella Spinazzola

Antonella Spinazzola

2

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Roberto Vettor

Roberto Vettor

7

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Marina Mora

Marina Mora

8

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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

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4 August 2017

Valeria Massa

5

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4 August 2017

publication date

24 September 2008

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4 August 2017

published in

Human Molecular Genetics

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4 August 2017

volume

18

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4 August 2017

issue

1

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4 August 2017

page(s)

12-26

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

4 August 2017

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

8 July 2018

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Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

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

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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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

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

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

21 January 2018

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Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

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

21 January 2018

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Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations

21 January 2018

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

21 January 2018

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

21 January 2018

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Mitochondrial dysfunction in focal segmental glomerulosclerosis of puromycin aminonucleoside nephrosis.

21 January 2018

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

21 January 2018

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21 January 2018

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Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells

21 January 2018

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

21 January 2018

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

21 January 2018

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12 December 2020

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Course of renal injury in the Mpv17-deficient transgenic mouse

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDN309

1 reference

4 August 2017

1 reference

4 August 2017

1 reference