(Q34545631)

2 August 2017

0 references

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia (English)

1 reference

hereditary spastic paraplegia

2 August 2017

1 reference

6

Walter Paulus

1 reference

2 August 2017

Ashraf U Mannan

1

1 reference

2 August 2017

Philip Krawen

2

1 reference

2 August 2017

Simone M Sauter

3

1 reference

2 August 2017

Johann Boehm

4

1 reference

2 August 2017

Agnieszka Chronowska

5

1 reference

2 August 2017

Juergen Neesen

7

1 reference

2 August 2017

Wolfgang Engel

8

1 reference

2 August 2017

language of work or name

English

0 references

publication date

1 June 2006

1 reference

American Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

79

1 reference

2 August 2017

351-357

1 reference

2 August 2017

2

1 reference

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

Phylogenetic analysis of AAA proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

Identification and characterization of RPK118, a novel sphingosine kinase-1-binding protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

The phosphatidylinositol 3-phosphate-binding FYVE finger

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

FYVE and coiled-coil domains determine the specific localisation of Hrs to early endosomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

The mouse SKD1, a homologue of yeast Vps4p, is required for normal endosomal trafficking and morphology in mammalian cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

FYVE-finger proteins--effectors of an inositol lipid

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

Involvement of the endosomal autoantigen EEA1 in homotypic fusion of early endosomes.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

EEA1 links PI(3)K function to Rab5 regulation of endosome fusion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

The VPS4 gene is involved in protein transport out of a yeast pre-vacuolar endosome-like compartment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

Neuroendocrine-specific protein C (NSP-C): subcellular localization and differential expression in relation to NSP-A

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

NSP-encoded reticulons, neuroendocrine proteins of a novel gene family associated with membranes of the endoplasmic reticulum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

A 200-amino acid ATPase module in search of a basic function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

Classification of the hereditary ataxias and paraplegias

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559503

Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16826525

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16826525

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/504927

1 reference

2 August 2017

1 reference

2 August 2017

1 reference