Gene: SPAST ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia. 25421405 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. 25045380 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. 23279441 2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Novel and recurrent spastin mutations in a large series of SPG4 Italian families. 22960362 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. 20550563 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. 21546041 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. 20562464 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. 20932283 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. 20214791 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion. 19000169 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing. 17389232 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. 16684598 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 16682546 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. 16339213 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. 15716377 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. 15891913 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. 14732620 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. 15667412 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 15248095 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 15482961 2004