|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency of mutations in SPAST (25%) was higher than REEP1 (3%), as well as ATL1 (5%) in AD-HSP patients.
|
31745725 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
As a result, SPG4 was diagnosed in 30.3% (37/122) of HSP cases, where the familial cases represented 37.7% (26/69) of SPG4.
|
31594988 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using spastic paraplegia type 4 (SPG4, the most frequent HSP subtype) as an exemplar, we here present three rapid phenotypic assays for uncovering neuronal process pathologies in iPSC-derived glutamatergic cortical neurons.
|
31270336 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SPAST gene are the most frequent cause of hereditary spastic paraplegia (HSP).
|
31751864 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SPAST, encoding the microtubule-severing ATPase spastin, are the most common causes of HSP.
|
31787869 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
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 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We characterized urinary complaints in 71 German HSP patients (mean age 55.4 ± 13.9 years; mean disease duration 20.7 ± 14.3 years; 48% SPG4-positive) using validated clinical rating scales (SCOPA-AUT, ICIQ-SF, ICIQ-LUTSqol).
|
30467602 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, miR-33a can be a potential therapeutic target for the treatment of HSP-SPG4.
|
30777884 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Expression of the mutant spastin was documented from fetus to adult, but gait defects reminiscent of HSP (not observed in spastin knockout mice) were adult onset, as is typical of human patients.
|
30520996 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most patients were French (89%) and had a family history of SPG4-HSP (75%).
|
30476002 |
2018 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in <i>SPG4</i>-encoding spastin cause hereditary spastic paraplegia (HSP).
|
30082270 |
2018 |
|
Henoch-Schoenlein Purpura
|
0.100 |
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 |
|
Henoch-Schoenlein Purpura
|
0.100 |
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 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Experiments presented here using isolated squid axoplasm reveal inhibition of FAT as a common toxic effect elicited by spastin proteins with different HSP mutations, independent of microtubule-binding or severing activity.
|
28398512 |
2017 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the spastin gene (<i>SPAST</i>) are the most common cause of HSP and typically present with a pure form.
|
28572275 |
2017 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPG4 is the most frequent form of autosomal dominant and SPG11 of autosomal recessive HSP in Southern Brazil.
|
29246610 |
2017 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All 17 coding exons of the SPAST gene were Sanger sequenced in 327 patients from 263 independent families with suspected uncomplicated HSP.
|
27334366 |
2016 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Adult-onset HSP is most commonly caused by mutations in SPAST, which encodes spastin a microtubule severing protein.
|
27229699 |
2016 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, utilizing null SPAST homologues in C. elegans, Drosophila and zebrafish, we tested FDA-approved compounds known to modulate ER stress in order to ameliorate locomotor phenotypes associated with HSP.
|
26744324 |
2016 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.
|
27789400 |
2016 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPG4 is the most common autosomal dominant form of HSP subtypes and is caused by mutations of the SPAST gene.
|
26165777 |
2015 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Spastic Gait 4 (SPG4), encoding spastin, are the most frequent cause of HSP.
|
24381312 |
2014 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A molecular diagnosis was obtained in 82.1 % of the cases (52 cases with mutations in SPAST/SPG4, two in SPG7, and one in SPG11).The prevalence of HSP among Sardinians is high compared with other Western European populations.
|
24141732 |
2014 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
We investigated the white matter features of spastic gait (SPG)11- and SPG4-linked HSP, using diffusion tensor imaging performed with a 3-Tesla (3T) scanner.
|
23968121 |
2014 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a large, AD-HSP Sardinian family where 5 out of several living members harbored a novel deletion affecting also the 5'UTR of SPAST and resulting in reduced expression of DPY30, the gene located upstream SPAST in a head-to-head manner.
|
24690193 |
2014 |