(Q33788304)

29 July 2017

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene (English)

1 reference

29 July 2017

0 references

4

Christian Bendixen

1 reference

29 July 2017

Bo Thomsen

1

1 reference

PubMed ID

19714378

29 July 2017

Peter H Nissen

series ordinal

2

1 reference

PubMed ID

19714378

29 July 2017

Jørgen S Agerholm

series ordinal

3

1 reference

29 July 2017

28 August 2009

1 reference

29 July 2017

1 reference

29 July 2017

11

1 reference

29 July 2017

2

1 reference

29 July 2017

175-183

1 reference

https://scigraph.springernature.com/pub.10.1007/s10048-009-0214-0

29 July 2017

0 references

cites work

Highly effective SNP-based association mapping and management of recessive defects in livestock

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Inherited disorders in Danish cattle

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Phylogenetic analysis of AAA proteins

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Domestic-animal genomics: deciphering the genetics of complex traits

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Complex vertebral malformation in holstein calves

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Hereditary spastic paraparesis: a review of new developments.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

A continuous spectrophotometric assay for inorganic phosphate and for measuring phosphate release kinetics in biological systems

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

4 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0214-0

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

The extent of axonal loss in the long tracts in hereditary spastic paraplegia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2854348

Genetic mapping of spinal dysmyelination in cross-bred American Brown Swiss cattle to bovine Chromosome 11

30 October 2018

1 reference

12 December 2020

Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene

1 reference

12 December 2020

Spinal dysmyelination in new-born brown Swiss x Braunvieh calves

1 reference

12 December 2020

Spinal dysmyelination in cross-bred brown Swiss calves

1 reference

12 December 2020

Inheritance of spinal dysmyelination in calves

1 reference

12 December 2020

[A new hereditary disease in Braunvieh cattle in Switzerland: spinal demyelinization (SDM) in calves that remain in lateral recumbency]

1 reference

12 December 2020

10.1007/S10048-009-0214-0

Identifiers

DOI

1 reference

29 July 2017

1 reference

29 July 2017

1 reference

PubMed ID

19714378