|
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 |
Biomarker
|
disease |
BEFREE |
These data suggest that spastin and atlastin function in the same biochemical pathway and that it is the cytoplasmic function of spastin which is important for the pathogenesis of HSP.
|
16339213 |
2006 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
We performed targeted next generation sequencing (NGS) in a SPAST-negative HSP sample.
|
23812641 |
2013 |
|
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 |
Biomarker
|
disease |
BEFREE |
Our results reveal a critical requirement for spastin to promote axonal outgrowth during embryonic development, and they validate the zebrafish embryo as a novel model system to dissect the pathogenetic mechanisms underlying HSP.
|
16893913 |
2006 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
These spastin-knockdown hESCs serve as an additional model for studying HSP.
|
24123785 |
2014 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Together, these results contribute to a better understanding of the pathogenesis of SPG4-linked HSP and ascertain the influence of microtubule-targeted drugs on the early axonal phenotype in a mouse model of the disease.
|
22773755 |
2013 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
our finding supports a "threshold-effect-model" for functional spastin in HSP.
|
20491894 |
2011 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
SPG4 HSP is characterized by large inter- and intrafamilial variability in age at onset (AAO) and disease severity.
|
17895902 |
2007 |
|
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 |
Our findings demonstrate that loss of spastin function elicits HSP-like phenotypes in Drosophila, provide novel insights into the molecular mechanism of spastin mutations, and raise the possibility that therapy with Vinca alkaloids may be efficacious in spastin-associated HSP and other disorders related to microtubule dysfunction.
|
16276413 |
2005 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spastin mice develop gait abnormalities that correlate with phenotypes seen in HSP patients and also axonal swellings containing cytoskeletal proteins, mitochondria and the amyloid precursor protein (APP).
|
19453301 |
2009 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic rearrangements could be a significant cause of SPG4-related HSP in the Taiwanese population.
|
22817815 |
2012 |
|
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 |
Mutations in 3 genes encoding proteins that work together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) - have been found to underlie many cases of HSP in Northern Europe and North America.
|
22232211 |
2012 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data strongly argue that spastin plays a role in cytoskeletal rearrangements and dynamics, and provide an attractive explanation for the degeneration of motor axons in HSP.
|
15269182 |
2004 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our study thus expands the knowledge on SPAST-associated HSP and emphasizes that de novo mutations and somatic mosaicism should be taken into consideration in HSP families presenting with a family history not suggestive for an autosomal dominant inheritance pattern.
|
25315759 |
2014 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In this study the spastin gene of HSP patients from 161 apparently unrelated families in Germany was analyzed.
|
12124993 |
2002 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results add to a growing number of HSP disease-associated variants and confirm the high prevalence of atlastin, spastin, and REEP1 mutations in the HSP patient population.
|
20718791 |
2011 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The Cho/Cr ratio in motor cortex (MC) of SPG4-HSP subjects was significantly lower than in controls.
|
19084842 |
2009 |