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ProteomicsSpastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation
Hereditary Spastic Paraplegia (HSP) is a neurodegenerative disease most commonly caused by autosomal dominant mutations in the SPG4 gene encoding the microtubule severing protein spastin. We hypothesise that SPG4-HSP is attributable to reduced spastin function due to haploinsufficiency, thus therape...
ORGANISM(S): Bos taurus (Bovine) Homo sapiens (Human) 
2020-10-22 | PXD021945 | Pride
Ubiquitination Spastin Hipk2 Spg4-hsp Protesomal degradation 
TranscriptomicsA patient-derived neural stem cell model for hereditary spastic paraplegia
Hereditary Spastic Paraplegia (HSP) leads to progressive gait disturbances with lower limb muscle weakness and spasticity. Mutations in SPG4 are a major cause of autosomal-dominant HSP. Spastin, the protein encoded by SPG4, is a microtubule-severing protein and is enriched in the distal axon of cor...
ORGANISM(S): Homo sapiens 
2012-12-20 | E-TABM-1180 | biostudies-arrayexpress
TranscriptomicsHereditary Spastic Paraparesis
The goal of this project is to study differentially expressed genes in patients affected by Hereditary Spastic Paraplegia (HSP) linked to mutations of the gene encoding spastin an ubiquitously expressed protein that has recently been shown to be involved in microtubule regulation and vesicle traffic...
ORGANISM(S): Homo sapiens 
2004-04-14 | GSE1300 | GEO
TranscriptomicsTranscription profiling of human hereditary spastic paraplegia patients
The goal of this project is to study differentially expressed genes in patients affected by Hereditary Spastic Paraplegia (HSP) linked to mutations of the gene encoding spastin an ubiquitously expressed protein that has recently been shown to be involved in microtubule regulation and vesicle traffic...
ORGANISM(S): Homo sapiens 
2007-07-29 | E-GEOD-1300 | biostudies-arrayexpress
UnknownExon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Not available
S-EPMC2598038 | biostudies-literature
UnknownCul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models.
Not available
S-EPMC11449140 | biostudies-literature
UnknownNovel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report.
Not available
S-EPMC10237142 | biostudies-literature
UnknownMetabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study.
Not available
S-EPMC11347332 | biostudies-literature
UnknownSpastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation.
Not available
S-EPMC7652396 | biostudies-literature
UnknownMutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
Not available
S-EPMC6783457 | biostudies-literature
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