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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
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
GenomicsGENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA
GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA
PRJNA313999 | ENA
ProteomicsAltered turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35
Fatty acid 2-hydroxylase (FA2H) is responsible for the synthesis of 2-hydroxylated fatty acids, which are a building block of sphingolipids. This 2-hydroxylated sphingolipids can be found in various tissues such as brain, spinal cord, skin, testis, ovary, kidney, stomach, or intestine with a notably...
ORGANISM(S): Mus musculus (Mouse) 
2021-01-04 | PXD021021 | Pride
Cns Mice Hereditary spastic paraplegia 35 Sphingolipids Neurodegeneration Disease model Fa2h Tmt Time course Myelin Fatty acid hydroxylation Isobaric labeling Fatty acid 2-hydroxylase Opalin 
GenomicsHipSci RNASEQ Spastic paraplegia
The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS lines from Spastic paraplegia patients
EGAS00001001991 | EGA
ProteomicsThe protein complex of kinesin motor KIF1C and its hereditary spastic paraplegia associated mutant G102A
Regulated local translation, RNA transport and protein localization are critical for spatio-temporal gene expression in neurons. The localization of mRNA and subsequent local protein synthesis contribute to neuronal functions like synaptogenesis, synapse pruning, axon guidance, axonal regeneration a...
ORGANISM(S): Homo sapiens (Human) 
2023-12-28 | PXD037387 | Pride
Hereditary spastic paraplegia Kif1c Neuronal cells 
Genomics
hereditary spastic paraplegia
PRJNA699100 | ENA
ProteomicsHigh-Content Screening Identifies A Small Molecule That Restores AP-4-dependent Protein Trafficking In Neuronal Models Of AP-4-Associated Hereditary Spastic Paraplegia
Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect therapeutic targets for rare diseases. In this study, we developed a high-throughput screening assay to identify molecules that correct aberrant protein trafficking in adaptor protein complex 4 (AP-4) defici...
ORGANISM(S): Homo sapiens (Human) 
2024-01-26 | PXD042950 | Pride
Human Autophagy Ipsc Drug screen Protein trafficking Hsp 
GenomicsGenetic variants of patients with hereditary spastic paraplegia
An investigation into genetic variants of Chinese patients with hereditary spastic paraplegia
ORGANISM(S): Homo Sapiens 
2024-10-19 | PRJEB81411 | EVA
UnknownSingle cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia.
Not available
S-EPMC8371156 | biostudies-literature
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