Results 91 to 100 of about 28,506 (225)

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation [PDF]

, 1999
Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 ...
Bakker, L. (Lida), Bakker, R. (Remco), Halley, D.J.J. (Dicky), Lindhout, D. (Dick), Nellist, M.D. (Mark), Ouweland, A.M.W. (Ans) van den, Slegtenhorst, M.A. (Marjon) van, Tempelaars, A.M.P. (Anita), Verhoef, S., Wang, Q. (Qing), Wessels, M.W. (Marja)   +10 more
core  

Modeling Autistic Features in Animals [PDF]

, 2011
A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Rapamycin-Insensitive Up-Regulation of Adipocyte Phospholipase A2 in Tuberous Sclerosis and Lymphangioleiomyomatosis [PDF]

, 2014
Tuberous sclerosis syndrome (TSC) is an autosomal dominant tumor suppressor gene syndrome affecting multiple organs, including renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM).
Guo, Yanan, Kwiatkowski, David J., Lee, Po-Shun, Li, Chenggang, Osorio, Juan C., Rosas, Ivan O., Sun, Yang, Xu, Kai-Feng, Yu, Jane J., Zhan, Yongzhong, Zhang, Erik   +10 more
core   +2 more sources

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

TSC1/2 mutations define a molecular subset of HCC with aggressive behaviour and treatment implication [PDF]

, 2017
Objective We investigated the mutational landscape of mammalian target of rapamycin (mTOR) signalling cascade in hepatocellular carcinomas (HCCs) with chronic HBV background, aiming to evaluate and delineate mutation-dependent mechanism of mTOR ...
Chan, LK, Cheung, TT, Chiu, YT, Ho, DWH, Lam, PWY, Li, M, Lo, ILO, Ng, IOL, Poon, RTP, Tang, CN, Tang, VWL, Wong, CM, XU, M, Yau, DTW   +13 more
core   +1 more source

A cell-penetrating ester of the neural metabolite lanthionine ketimine stimulates autophagy through the mTORC1 pathway: Evidence for a mechanism of action with pharmacological implications for neurodegenerative pathologies

Neurobiology of Disease, 2015
Autophagy is a fundamental cellular recycling process vulnerable to compromise in neurodegeneration. We now report that a cell-penetrating neurotrophic and neuroprotective derivative of the central nervous system (CNS) metabolite, lanthionine ketimine ...
Marni E. Harris-White, Kathie G. Ferbas, Ming F. Johnson, Pirooz Eslami, Aleksandra Poteshkina, Kalina Venkova, Alexandar Christov, Kenneth Hensley   +7 more
doaj   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Tuberous Sclerosis Complex Activity Is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner [PDF]

, 2009
Tuberous Sclerosis Complex (TSC) is a neurogenetic disorder caused by loss-of-function mutations in either the TSC1 or TSC2 genes and frequently results in prominent CNS manifestations including epilepsy, mental retardation, and autism spectrum disorder.
Cho, Namjik, Di Nardo, Alessia, Kramvis, Ioannis, Kwiatkowski, David J., Meikle, Lynsey, Sadowski, Abbey, Sahin, Mustafa   +6 more
core   +1 more source

IL-37d suppresses Rheb-mTORC1 axis independently of TCS2 to alleviate alcoholic liver disease

Communications Biology
Tuberous sclerosis complex 2 (TSC2) crucially suppresses Rheb activity to prevent mTORC1 activation. However, mutations in TSC genes lead to mTORC1 overactivation, thereby causing various developmental disorders and cancer.
Nuo Chen, Xiaoyu Wang, Yaxin Guo, Ming Zhao, Baihui Cao, Bing Zhan, Yubin Li, Tian Zhou, Faliang Zhu, Chun Guo, Yongyu Shi, Qun Wang, Lining Zhang, Yan Li   +13 more
doaj   +1 more source