(Q51434218)

5 April 2018

title

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene. (English)

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5 April 2018

Valentina Imperatore

2

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Erika Fernandez-Vizarra

Erika Fernandez-Vizarra

3

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Elisa Frullanti

Elisa Frullanti

12

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Alessandra Renieri

Alessandra Renieri

10

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Francesca Mari

Francesca Mari

11

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Massimo Zeviani

9

Massimo Zeviani

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5 April 2018

author name string

Laura Bianciardi

1

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5 April 2018

Angela Lopomo

4

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5 April 2018

Micol Falabella

5

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5 April 2018

Simone Furini

6

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5 April 2018

Paolo Galluzzi

7

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5 April 2018

Salvatore Grosso

8

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5 April 2018

publication date

3 September 2016

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5 April 2018

Molecular Genetics and Metabolism

published in

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5 April 2018

volume

119

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5 April 2018

issue

3

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5 April 2018

page(s)

214-222

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5 April 2018

Subacute necrotizing encephalomyelopathy in an infant

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.09.001

Leigh and Leigh-like syndrome in children and adults

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Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

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Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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New treatments for mitochondrial disease-no time to drop our standards

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A mitochondrial protein compendium elucidates complex I disease biology

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Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

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Energy converting NADH:quinone oxidoreductase (complex I).

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Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

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7 January 2021

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Early complex I assembly defects result in rapid turnover of the ND1 subunit

7 January 2021

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Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

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Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants

7 January 2021

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Gene promoter methylation in colorectal cancer and healthy adjacent mucosa specimens: correlation with physiological and pathological characteristics, and with biomarkers of one-carbon metabolism

7 January 2021

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LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

7 January 2021

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Restoration of electron transport without proton pumping in mammalian mitochondria.

7 January 2021

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Electrophoresis techniques to investigate defects in oxidative phosphorylation

7 January 2021

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Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits

7 January 2021

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Assembly of mitochondrial complex I and defects in disease

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Identifiers

DOI

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5 April 2018

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5 April 2018