×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
BEFREE
We aim to extend the mutation spectrum of spastic paraplegia 4 (SPG4 ) and carried out experiment in vitro to explore the influence of the SPAST gene mutation on the function of corresponding protein.
31751864
2019
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
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
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
CausalMutation
disease
CLINVAR
Clinical and genetic study of hereditary spastic paraplegia in Canada.
27957547
2017
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
Biomarker
disease
GENOMICS_ENGLAND
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
CausalMutation
disease
CLINVAR
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
CLINVAR
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
27334366
2016
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
26374131
2016
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
BEFREE
Human skin fibroblasts were isolated from a 40-year-old hereditary spastic paraplegia patient carrying an intronic splice site mutation (c.1687+2T>A) in SPAST , leading to hereditary spastic paraplegia type 4 (SPG4 ).
27789400
2016
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
27334366
2016
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
27084228
2016
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
26374131
2016
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
27260292
2016
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
Biomarker
disease
BEFREE
Three genetic types, SPG3 (ATL1), SPG4 (SPAST ) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs).
26671083
2015
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
26671083
2015
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Multimodal MRI-based study in patients with SPG4 mutations.
25658484
2015
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
26208798
2015
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.
24381312
2014
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
Biomarker
disease
BEFREE
Here, we have generated a human neuronal model of SPG4 by establishing induced pluripotent stem cells (iPSCs) from an SPG4 patient and differentiating these cells into telencephalic glutamatergic neurons.
24123785
2014
×
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
CLINVAR
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
CausalMutation
disease
CLINVAR
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
25341883
2014
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
AlteredExpression
disease
BEFREE
Furthermore, our human model offers an ideal platform for pharmacological screenings with the goal to restore physiological spastin levels in SPG4 patients.
24381312
2014
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
24824479
2014