(Q53493404)

14 May 2018

title

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

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14 May 2018

author

Ester Quintana

4

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14 May 2018

Laura Gort Mas

object named as

Laura Gort

11

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Antonia Ribes

object named as

Antonia Ribes

13

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author name string

Aleix Navarro-Sastre

1

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14 May 2018

Elena Martín-Hernández

2

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14 May 2018

Yolanda Campos

3

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14 May 2018

Enrique Medina

5

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14 May 2018

Rogelio Simón de Las Heras

6

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14 May 2018

Montserrat Lluch

7

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14 May 2018

Alberto Muñoz

8

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14 May 2018

Pilar del Hoyo

9

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14 May 2018

Rebeca Martín

10

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14 May 2018

Paz Briones

12

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14 May 2018

publication date

10 March 2008

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14 May 2018

Molecular Genetics and Metabolism

published in

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14 May 2018

volume

94

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14 May 2018

issue

2

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14 May 2018

page(s)

234-239

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14 May 2018

Maintaining precursor pools for mitochondrial DNA replication

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Mitochondrial respiratory-chain diseases

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

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

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

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

7 January 2021

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Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

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Significance of bound glutarate in the diagnosis of glutaric aciduria type I

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A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

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Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

7 January 2021

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Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis

7 January 2021

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Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

7 January 2021

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

7 January 2021

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

7 January 2021

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Nonsense-mediated mRNA decay

7 January 2021

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Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

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7 January 2021

Identifiers

DOI

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14 May 2018

PubMed ID

18329934

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14 May 2018