A Human TSC1 Variant Screening Platform in Gabaergic Cortical Interneurons for Genotype to Phenotype Assessments [PDF]
Frontiers in Molecular Neuroscience, 2020 The TSC1 and TSC2 genes are connected to multiple syndromes from Tuberous Sclerosis Complex (TSC) to autism spectrum disorder (ASD), with uncertainty if genetic variants cause all or subsets of phenotypes based on the location and type of change.
Dean Wundrach +13 more
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Uncomplexed-TSC1 deploys novel mTORC1-independent pathway to exacerbate the liver glycogen storage in TSC [PDF]
Cell Death and DiseaseTuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations in TSC1 or TSC2 gene, leading to mTORC1 hyperactivation. However, mTORC1-independent mechanisms in this disorder remain poorly understood.
Xiaoqiao Yue +9 more
doaj +2 more sources
Long non-coding RNA OIP5-AS1 suppresses multiple myeloma progression by sponging miR-27a-3p to activate TSC1 expression [PDF]
Cancer Cell International, 2020 Background Multiple myeloma (MM) is a prevalent hematological malignancy. Long noncoding RNAs are correlated with the development of MM. In this project, the function of lncRNA opa interacting protein 5-antisense 1 (OIP5-AS1) in MM and the potential ...
Yong Wang +5 more
doaj +2 more sources
Specific disruption of Tsc1 in ovarian granulosa cells promotes ovulation and causes progressive accumulation of corpora lutea. [PDF]
PLoS ONE, 2013 Tuberous sclerosis complex 1 (Tsc1) is a tumor suppressor negatively regulating mammalian target of rapamycin complex 1 (mTORC1). It is reported that mice lacking Tsc1 gene in oocytes show depletion of primordial follicles, resulting in premature ovarian
Lin Huang +11 more
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TSC1-mTOR signaling determines the differentiation of islet cells [PDF]
Journal of Endocrinology, 2016 Neurogenin3-driven deletion of tuberous sclerosis complex 1 (Tsc1) activated mechanistic target of rapamycin complex 1 (mTORC1) measured by the upregulation of mTOR and S6 phosphorylation in islet cells.Neurogenin3-Tsc1−/−mice demonstrated a significant increase in average islet size and mean area of individual islet cell.
Li Ding +5 more
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TSC1 deficiency drives immune evasion in colorectal cancer via mTORC1-mediated dysregulation of PD-L1 sialylation [PDF]
Frontiers in ImmunologyBackgroundTSC1 serves as a critical regulator of the mTORC1 signaling pathway with established roles in colorectal cancer pathogenesis. This investigation systematically examined the clinical relevance of TSC1 in colorectal cancer and its mechanistic ...
Xuemei Guan +4 more
doaj +2 more sources
Brain Proteomic Profiling in Intractable Epilepsy Caused by TSC1 Truncating Mutations: A Small Sample Study [PDF]
Frontiers in Neurology, 2020 Tuberous sclerosis complex (TSC) is a genetic disease characterized by seizures, mental deficiency, and abnormalities of the skin, brain, kidney, heart, and lungs. TSC is inherited in an autosomal dominant manner and is caused by variations in either the
Yi-Dan Liu +13 more
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Renal Angiomyolipoma in a Young Woman With Tuberous Sclerosis: A Case Report. [PDF]
Clin Case RepABSTRACT Tuberous sclerosis is a rare autosomal dominant genetic disorder caused by mutations in tumor suppressor genes (TSC1/2), leading to hamartomas in multiple organs. Renal angiomyolipomas are often asymptomatic but can cause mass effects or bleeding if they enlarge, requiring treatment.
Lema DD +7 more
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Tsc1 (hamartin) confers neuroprotection against ischemia by inducing autophagy [PDF]
Nature Medicine, 2013 Previous attempts to identify neuroprotective targets by studying the ischemic cascade and devising ways to suppress it have failed to translate to efficacious therapies for acute ischemic stroke. We hypothesized that studying the molecular determinants of endogenous neuroprotection in two well-established paradigms, the resistance of CA3 hippocampal ...
Michalis Papadakis +14 more
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Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes [PDF]
Scientific ReportsTuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of benign tumors and lesions in multiple organ systems. The syndrome arises from heterozygous mutations in either TSC1 or TSC2.
Xiu-juan Yao +13 more
doaj +2 more sources