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
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Identification of genetic variants in a pedigree associated with epilepsy by using whole exome sequencing and whole genome sequencing [PDF]
Journal of Integrative Neuroscience, 2021 Epilepsy is a common heterogeneous group of neurological disorders including electroencephalographic and brain imaging. We used whole exome sequencing and whole genome sequencing to identify variants in a pedigree associated with epilepsy.
Qin-Qin Zhang +5 more
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Tsc2 coordinates neuroprogenitor differentiation
iScience, 2023 Neural stem cells (NSCs) of the ventricular-subventricular zone (V-SVZ) generate numerous cell types. The uncoupling of mRNA transcript availability and translation occurs during the progression from stem to differentiated states. The mTORC1 kinase pathway acutely controls proteins that regulate mRNA translation.
Victoria A. Riley +8 more
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TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β [PDF]
Human Molecular Genetics, 2018 Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by germline inactivating mutations of TSC1 or TSC2. In TSC-associated tumors of the brain, heart, skin, kidney and lung, inactivation of both alleles of TSC1 or TSC2 leads to hyperactivation of the mTORC1 pathway.
Barbara Ogórek +8 more
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Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM. [PDF]
PLoS ONE, 2008 BACKGROUND: Tuberous sclerosis complex (TSC), a tumor syndrome caused by mutations in TSC1 or TSC2 genes, is characterized by the development of hamartomas.
Elena Lesma +5 more
doaj +1 more source
Lymphangioleiomyomatosis andTSC2-/-Cells [PDF]
Lymphatic Research and Biology, 2010 The cells comprising pulmonary lymphangioleiomyomatosis (LAM) and renal angiomyolipomas (AMLs) are heterogeneous, with variable mixtures of cells exhibiting differentiation towards smooth muscle, fat, and vessels. Cells grown from LAM and AMLs have likewise tended to be heterogeneous.
T. N. Darling +5 more
openaire +2 more sources
Tumor suppressors TSC1 and TSC2 differentially modulate actin cytoskeleton and motility of mouse embryonic fibroblasts. [PDF]
PLoS ONE, 2014 TSC1 and TSC2 mutations cause neoplasms in rare disease pulmonary LAM and neuronal pathfinding in hamartoma syndrome TSC. The specific roles of TSC1 and TSC2 in actin remodeling and the modulation of cell motility, however, are not well understood ...
Elena A Goncharova +4 more
doaj +1 more source
Hypo-Expression of Tuberin Promotes Adenomyosis via the mTOR1-Autophagy Axis
Frontiers in Cell and Developmental Biology, 2021 Adenomyosis (AM) is a disease in which endometrial tissue invades the myometrium and has a 10–60% prevalence in reproductive-aged women. TSC2 regulates autophagy via mTOR1 signalling in colorectal cancer and endometrial carcinoma.
Ni-Hao Gu +20 more
doaj +1 more source