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UnknownAmplifying the spectrum of SPAST gene mutations.
Not available
S-EPMC10523053 | biostudies-literature
GenomicsEffect of depletion of SPAST exon17 on gene expression in human embryonic stem cells (hESC) and cortical organoids (COs)
Effect of depletion of SPAST exon17 on gene expression in human embryonic stem cells (hESC) and cortical organoids (COs)
PRJNA930894 | ENA
TranscriptomicsEffect of depletion of SPAST exon17 on gene expression in human embryonic stem cells (hESC) and cortical organoids (COs)
To investigate neurodegenerative disease, we established SPAST exon17 knock-out in hESCs in which target gen have been knocked down by CRISPR/Cas9, differentiated into COs.
ORGANISM(S): Homo sapiens 
2026-04-06 | GSE224414 | GEO
UnknownEvidence of mosaicism in SPAST variant carriers in four French families.
Not available
S-EPMC8298572 | biostudies-literature
GenomicsSingle-cell transcriptomic profiling of SPAST exon 17 deletion–induced neurodegeneration in human cortical organoids
Single-cell transcriptomic profiling of SPAST exon 17 deletion–induced neurodegeneration in human cortical organoids
PRJNA1435162 | ENA
UnknownExpanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.
Not available
S-EPMC12790158 | biostudies-literature
UnknownA Novel SPAST Variant Associated with Isolated Spastic Paraplegia.
Not available
S-EPMC10771913 | biostudies-literature
Genomics
SPAST variant that causes hereditary spastic paraplegia
PRJNA623078 | ENA
UnknownMutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.
Not available
S-EPMC4101104 | biostudies-literature
UnknownSpastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation.
Not available
S-EPMC11429824 | biostudies-literature
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