Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance (Q30414484)

22 August 2017

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance (English)

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chronic progressive external ophthalmoplegia

22 August 2017

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David Moore

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Stephan R. Jaiser

Stephan R Jaiser

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Gerald Pfeffer

Gerald Pfeffer

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Charlotte L Alston

Charlotte L Alston

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Brendan Payne

Brendan Payne

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Helen Griffin

Helen Griffin

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Rita Horvath

Rita Horvath

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Angela Pyle

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Angela Pyle

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Patrick Yu-Wai-Man

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Patrick F Chinnery

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Marzena Kurzawa-Akanbi

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Marzena Kurzawa-Akanbi

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Emma L Blakely

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Gráinne S Gorman

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Robert William Taylor

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Robert W Taylor

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Douglass Matthew Turnbull

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Douglass M Turnbull

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Mark R Baker

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Andrew M Schaefer

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Cheryl Longman

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Julie L Murphy

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Robert McFarland

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Kamil Sitarz

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Marios Hadjivassiliou

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Marios Hadjivassiliou

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Jon Coxhead

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Fiona Norwood

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Timothy Lynch

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Ian Wilson

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George H Gorrie

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John McConville

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David Dick

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Ibrahim Imam

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David Hilton

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Michael Farrell

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Allan McCarthy

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language of work or name

English

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publication date

10 April 2014

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22 August 2017

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137

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1323-1336

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Pt 5

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describes a project that uses

22 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3999722/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Universal heteroplasmy of human mitochondrial DNA.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Multi-system neurological disease is common in patients with OPA1 mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

SLP-2 is required for stress-induced mitochondrial hyperfusion

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Inherited mitochondrial diseases of DNA replication

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

The diagnosis of mitochondrial muscle disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU060

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU060

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU060

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU060

Compartment-specific perturbation of protein handling activates genes encoding mitochondrial chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU060

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU060

Functional evaluation of paraplegin mutations by a yeast complementation assay

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3999722

Axonal integrity of corticospinal projections to the upper limbs in patients with pure hereditary spastic paraplegia

26 November 2018

1 reference

12 December 2020

Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients

1 reference

12 December 2020

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

1 reference

12 December 2020

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

1 reference

12 December 2020

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWU060

1 reference

22 August 2017

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22 August 2017

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