Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
New hypothesis for the etiology of SPAST-based hereditary spastic paraplegia.
|
31108029 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
|
31594988 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An extensive genetic analysis identified a specific class of heterozygous germline mutation in SPAST, p.(Arg499His), which is responsible for hereditary spastic paraplegia with infantile onset.
|
31698101 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the microtubule severing ATPase spastin are the most frequent cause of hereditary spastic paraplegia, a genetic condition characterised by length-dependent axonal degeneration.
|
31587092 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
|
31751864 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
<i>MiR-33a</i> is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons.
|
30777884 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Even though SPAST is well known as a regulator of the axon growth and arborization in neurons and a genetic factor of hereditary spastic paraplegia, it also takes part in a wide range of other cellular functions including the regulation of cell division and proliferation.
|
31150727 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4-HSP), which is characterized by progressive lower limb weakness, spasticity and hyperreflexia.
|
30489674 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the SPAST gene, which encodes the microtubule-severing protein spastin, are the most common cause of hereditary spastic paraplegia (HSP).
|
30520996 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The AAA+ ATPase spastin remodels microtubule arrays through severing and its mutation is the most common cause of hereditary spastic paraplegias (HSP).
|
31285604 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks.
|
30737580 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations of the <i>SPG4</i> (<i>SPAST</i>) gene encoding for spastin protein are the main causes of hereditary spastic paraplegia.
|
30213879 |
2018 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Spastic paraplegia 4 (SPG4), caused by heterozygous mutations in the gene SPAST, typically causes a late-onset, uncomplicated form of hereditary spastic paraplegia in affected individuals.
|
29421991 |
2018 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here we report a novel epistatic interaction between SPAST and the contiguous gene DPY30, which modifies age at onset in hereditary spastic paraplegia, a genetic axonopathy.
|
29481671 |
2018 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in <i>SPG4</i>-encoding spastin cause hereditary spastic paraplegia (HSP).
|
30082270 |
2018 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of the SPAST gene are frequently detected in patients with hereditary spastic paraplegias (HSPs) and represent the main reason of loss of SPAST function; however, the pathogenicity of mutant SPAST is heterogeneous.
|
30006150 |
2018 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified deletions of exon 10 of the SPAST gene in two unrelated families with hereditary spastic paraplegia.
|
28008689 |
2017 |
Spastic Paraplegia, Hereditary
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Truncating mutations of <i>SPAST</i> associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin.
|
28495799 |
2017 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of hereditary spastic paraplegia (HSP).
|
28870597 |
2017 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia.
|
27229699 |
2016 |
Spastic Paraplegia, Hereditary
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
The SPAST gene has a major role in hereditary spastic paraplegias (HSPs).
|
27334366 |
2016 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.
|
27789400 |
2016 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review.
|
26165777 |
2015 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SPG4 gene (SPG4-HSP) are the most frequent cause of hereditary spastic paraplegia, but the extent of the neurodegeneration related to the disease is not yet known.
|
25658484 |
2015 |