(Q33627511)

28 July 2017

0 references

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency (English)

1 reference

28 July 2017

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1 reference

1

Ronen Spiegel

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author name string

Devorah Soiferman

2

1 reference

28 July 2017

Avraham Shaag

3

1 reference

28 July 2017

Stavit Shalev

4

1 reference

28 July 2017

Orly Elpeleg

5

1 reference

28 July 2017

Ann Saada

6

1 reference

28 July 2017

19 August 2016

1 reference

Journal of Inherited Metabolic Disorders Reports

28 July 2017

1 reference

28 July 2017

33

1 reference

28 July 2017

55-60

1 reference

A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Oxidative Stress in Caenorhabditis elegans: Protective Effects of Spartin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Developmental and degenerative features in a complicated spastic paraplegia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

The hereditary spastic paraplegia protein spartin localises to mitochondria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413448

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

21 June 2018

1 reference

https://api.crossref.org/works/10.1007%2F8904_2016_580

Three cases of Troyer syndrome in two families of Filipino descent.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2F8904_2016_580

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2F8904_2016_580

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2F8904_2016_580

Recurrent null mutation in SPG20 leads to Troyer syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2F8904_2016_580

21 January 2018

Identifiers

DOI

10.1007/8904_2016_580

1 reference

28 July 2017

1 reference

28 July 2017

1 reference