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ProteomicsPhosphoproteomics reveals altered RNA splicing as a major potential driver of pathology in the brain in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare disease caused by mutations in the genes TSC1 and TSC2, resulting in activation of mechanistic target of rapamycin complex 1 (mTORC1). Neurological manifestations occur in most TSC patients and include epilepsy, autism and intellectual disability. Two types...
ORGANISM(S): Homo sapiens (Human) 
2026-04-13 | PXD069405 | Pride
Tmtpro Rna processing Tsc Human Segas Tubers Mtor 
TranscriptomicsTSC SEGA Atlas [snRNA-seq]
Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by benign growths called hamartomas that can be a significant cause of morbidity and mortality. Hamartomas are found along the neurocutaneous axis including along the brain’s ventricles near the boundaries of the striatum. They can...
ORGANISM(S): Homo sapiens 
2025-08-01 | GSE291281 | GEO
TranscriptomicsTuberous sclerosis complex-associated CNS abnormalities depend on hyperactivation of mTORC1 and Akt
Tuberous sclerosis complex (TSC) is a dominantly inherited disease, caused by hyperactivation of the mTORC1 pathway and characterized by the development of hamartomas and benign tumors, also in the brain. Among the neurological manifestations associated with TSC, the tumor progression of static sube...
ORGANISM(S): Mus musculus 
2018-02-14 | GSE109321 | GEO
UnknownSubependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Not available
S-EPMC9361192 | biostudies-literature
UnknownSingle nuclei transcriptomics reveals cellular diversity in TSC subependymal giant cell astrocytomas.
Not available
S-EPMC12455011 | biostudies-literature
UnknownThe coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas.
Not available
S-EPMC6935755 | biostudies-literature
UnknownTuberous sclerosis complex-associated CNS abnormalities depend on hyperactivation of mTORC1 and Akt.
Not available
S-EPMC5873854 | biostudies-literature
UnknownResponse to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Not available
S-EPMC4795200 | biostudies-literature
GenomicsThe coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas
Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited neurocutaneous disorder caused by inactivating mutations in TSC1 or TSC2, key regulators of the mechanistic target of rapamycin complex 1 (mTORC1) pathway. In the central nervous system TSC is characterized by cortical tubers, sub...
EGAS00001003787 | EGA
UnknownDistinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex.
Not available
S-EPMC9560915 | biostudies-literature
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