Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia (Q41551921)

3 October 2017

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia (English)

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3 October 2017

1

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11 June 2020

Rita Selvatici

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11 June 2020

Rachele Rossi

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11 June 2020

Marika Pane

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11 June 2020

Eugenio Mercuri

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11 June 2020

Daniele Ghezzi

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11 June 2020

author name string

Chiara Scotton

2

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11 June 2020

Irina Zaharieva

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11 June 2020

Marcella Neri

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11 June 2020

Olafur Thor Magnusson

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11 June 2020

Aniko Gal

7

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11 June 2020

David Weaver

8

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11 June 2020

Annarita Armaroli

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11 June 2020

Rahul Phadke

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11 June 2020

Anna Sarkozy

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11 June 2020

Francesco Muntoni

14

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11 June 2020

Imelda Hughes

15

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11 June 2020

Antonella Cecconi

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11 June 2020

György Hajnóczky

17

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11 June 2020

Alice Donati

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11 June 2020

Alessandra Ferlini

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11 June 2020

Massimo Zeviani

20

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11 June 2020

language of work or name

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23 May 2017

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3 October 2017

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11 June 2020

volume

38

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11 June 2020

page(s)

970-977

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11 June 2020

issue

8

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Multiple dynamin family members collaborate to drive mitochondrial division

11 June 2020

cites work

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Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

6 June 2018

1 reference

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Distribution and apoptotic function of outer membrane proteins depend on mitochondrial fusion

6 June 2018

1 reference

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Mitochondrial fusion is frequent in skeletal muscle and supports excitation-contraction coupling

6 June 2018

1 reference

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

6 June 2018

1 reference

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Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 June 2018

1 reference

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 June 2018

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

6 June 2018

1 reference

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Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

6 June 2018

1 reference

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Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy

6 June 2018

1 reference

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Human Misato regulates mitochondrial distribution and morphology

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

Different mitochondrial intermembrane space proteins are released during apoptosis in a manner that is coordinately initiated but can vary in duration

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

Mitochondrial morphology and dynamics in yeast and multicellular eukaryotes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

The dynamin superfamily: universal membrane tubulation and fission molecules?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

Preliminary characterisation of DML1, an essential Saccharomyces cerevisiae gene related to misato of Drosophila melanogaster.

6 June 2018

1 reference

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Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

6 June 2018

1 reference

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OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

6 June 2018

1 reference

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Rapid diffusion of green fluorescent protein in the mitochondrial matrix

6 June 2018

1 reference

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An essential cell division gene of Drosophila, absent from Saccharomyces, encodes an unusual protein with tubulin-like and myosin-like peptide motifs

6 June 2018

1 reference

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Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5575512

19 August 2018

Identifiers

DOI

10.1002/HUMU.23262

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11 June 2020

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11 June 2020

1 reference