Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23963
Abstract: The TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause TSC,… read more here.
Keywords: functional structural; tsc2 variants; tsc; tsc1 tsc2 ... See more keywords
Prenatal phenotypic discordance in monozygotic twins due to a postzygotic TSC2 variant
Sign Up to like & getrecommendations! Published in 2020 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5850
Abstract: Zygosity is a description that reflects the type of conception, that is, whether a twin pair arise from one or two zygotes. Monozygotic (MZ) twins, developing from a single zygote, are assumed to be genetically… read more here.
Keywords: pregnancy; tsc2 variant; postzygotic tsc2; tsc2 ... See more keywords
Structural insights into TSC complex assembly and GAP activity on Rheb
Sign Up to like & getrecommendations! Published in 2021 at "Nature Communications"
DOI: 10.1038/s41467-020-20522-4
Abstract: Tuberous sclerosis complex (TSC) integrates upstream stimuli and regulates cell growth by controlling the activity of mTORC1. TSC complex functions as a GTPase-activating protein (GAP) towards small GTPase Rheb and inhibits Rheb-mediated activation of mTORC1.… read more here.
Keywords: gap; tsc complex; tsc; tsc2 ... See more keywords
Haploinsufficiency of Tsc2 Leads to Hyperexcitability of Medial Prefrontal Cortex via Weakening of Tonic GABAB Receptor-mediated Inhibition.
Sign Up to like & getrecommendations! Published in 2020 at "Cerebral cortex"
DOI: 10.1093/cercor/bhaa187
Abstract: Loss-of-function mutation in one of the tumor suppressor genes TSC1 or TSC2 is associated with several neurological and psychiatric diseases, including autism spectrum disorders (ASDs). As an imbalance between excitatory and inhibitory neurotransmission, E/I ratio… read more here.
Keywords: inhibition; medial prefrontal; tsc2; mediated inhibition ... See more keywords
Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2
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DOI: 10.1097/md.0000000000021949
Abstract: Abstract Rationale: Rhabdomyoma is the most common type of fetal heart tumors and 50% to 60% of cardiac rhabdomyomas are associated with tuberous sclerosis complex (TSC). TSC is characterized by hamartomas in multiple organ systems… read more here.
Keywords: tsc2; blood; tuberous sclerosis; mosaicism ... See more keywords
Upregulation of C/EBPβ and TSC2 by an HDAC inhibitor CG200745 protects heart from DOCA‐induced hypertrophy
Sign Up to like & getrecommendations! Published in 2019 at "Clinical and Experimental Pharmacology and Physiology"
DOI: 10.1111/1440-1681.13022
Abstract: Histone deacetylases (HDACs) are a vast family divided into four major classes: class I (1, 2, 3, and 8), class II (4, 5, 6, 7, 9 and 10), class III (sirtuin family) and class IV… read more here.
Keywords: hypertrophy; ebp tsc2; tsc2; hdac inhibitor ... See more keywords
NFATc2-dependent epigenetic downregulation of the TSC2/Beclin-1 pathway is involved in neuropathic pain induced by oxaliplatin
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Pain"
DOI: 10.1177/17448069231158289
Abstract: Neuropathic pain is a common dose-limiting side effect of oxaliplatin, which hampers the effective treatment of tumors. Here, we found that upregulation of transcription factor NFATc2 decreased the expression of Beclin-1, a critical molecule in… read more here.
Keywords: epigenetic downregulation; neuropathic pain; beclin; pain ... See more keywords
The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort
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DOI: 10.1186/s12916-022-02325-0
Abstract: Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain, kidneys, heart, liver, eyes, lungs and skin, in addition to neurological and… read more here.
Keywords: tsc2; heart; tuberous sclerosis; tsc1 tsc2 ... See more keywords
Single serine on TSC2 exerts biased control over mTORC1 activation mediated by ERK1/2 but not Akt
Sign Up to like & getrecommendations! Published in 2022 at "Life Science Alliance"
DOI: 10.26508/lsa.202101169
Abstract: Both ERK1/2 and Akt kinases activate mTORC1, but only the former is bidirectionally regulated by the status of serine S1364 on TSC2 that confers input-selective mTORC1 amplification or attenuation. read more here.
Keywords: tsc2; akt; single serine; mtorc1 ... See more keywords
Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.952832
Abstract: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by pathogenic variants in TSC1 and TSC2 genes. TSC patients present with seizures and brain abnormalities such as tubers and subependymal giant cells astrocytoma (SEGA).… read more here.
Keywords: mutant zebrafish; hit; model; tsc2 ... See more keywords
Tsc2 shapes olfactory bulb granule cell molecular and morphological characteristics
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.970357
Abstract: Tuberous Sclerosis Complex (TSC) is a neurodevelopmental disorder caused by mutations that inactivate TSC1 or TSC2. Hamartin and tuberin are encoded by TSC1 and TSC2 which form a GTPase activating protein heteromer that inhibits the… read more here.
Keywords: tsc2 mutant; granule; loss tsc2; morphological characteristics ... See more keywords