(Q31152681)

4 October 2017

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

1 reference

4 October 2017

1 reference

Joanna C Bakowska

1 reference

4 October 2017

Heng Wang

1 reference

4 October 2017

Baozhong Xin

1 reference

4 October 2017

Charlotte J Sumner

1 reference

4 October 2017

Craig Blackstone

1 reference

4 October 2017

1 April 2008

1 reference

4 October 2017

Archives of Neurology

1 reference

4 October 2017

1 reference

4 October 2017

1 reference

4 October 2017

520-524

1 reference

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

4 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

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=5580255

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

The Troyer syndrome (SPG20) protein spartin interacts with Eps15.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

The identification of a conserved domain in both spartin and spastin, mutated 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=5580255

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

Is the transportation highway the right road for 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=5580255

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=5580255

Regulation of BRCA1 by protein degradation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

Troyer syndrome: a combination of central brain abnormality and motor neuron disease?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

Hereditary spastic paraplegias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or “new” syndrome*

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580255

Troyer syndrome revisited. A clinical and radiological study of a complicated 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=5580255

Hereditary spastic paraplegia

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18413476

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHNEUR.65.4.520

1 reference

4 October 2017

1 reference

4 October 2017

PubMed publication ID

18413476

1 reference