Results 31 to 40 of about 20,458 (226)

Differential response of skeletal muscles to mTORC1 signaling during atrophy and hypertrophy [PDF]

, 2013
BACKGROUND: Skeletal muscle mass is determined by the balance between protein synthesis and degradation. Mammalian target of rapamycin complex 1 (mTORC1) is a master regulator of protein translation and has been implicated in the control of muscle mass ...
Handschin, Christoph, Bentzinger, C. Florian, Guridi, Maitea, Castets, Perrine, Hall, Michael N, Tintignac, Lionel A., Hall, Michael N., Perrine Castets, Romanino, Klaas, Tintignac, Lionel, Rüegg, Markus A, Michael N Hall, Lin, Shuo, Markus A Rüegg, Bentzinger, C Florian, Christoph Handschin, Serge Summermatter, Summermatter, Serge, C Bentzinger, Klaas Romanino, Maitea Guridi, Shuo Lin, Rüegg, Markus A., Lionel A Tintignac   +23 more
core   +1 more source

Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. [PDF]

PLoS ONE, 2014
Germline and somatic biallelic mutations of the Tuberous sclerosis complex (TSC) 1 and TSC2 gene products cause TSC, an autosomal dominant multifocal hamartomatosis with variable neurological manifestations. The consequences of TSC1 or TSC2 loss in cells
Karolina Pilipow, Veronica Basso, Nicola Migone, Anna Mondino   +3 more
doaj   +1 more source

A Human TSC1 Variant Screening Platform in Gabaergic Cortical Interneurons for Genotype to Phenotype Assessments

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, Luis E. Martinetti, Luis E. Martinetti, April M. Stafford, Stephanie M. Bilinovich, Kartik Angara, Jeremy W. Prokop, Jeremy W. Prokop, Jeremy W. Prokop, Shane R. Crandall, Shane R. Crandall, Daniel Vogt, Daniel Vogt, Daniel Vogt   +13 more
doaj   +1 more source

Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations

Molecular Autism, 2023
Background Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in the TSC1 or TSC2 genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders ...
Inci S. Aksoylu, Pauline Martin, Francis Robert, Krzysztof J. Szkop, Nicholas E. Redmond, Srirupa Bhattacharyya, Jennifer Wang, Shan Chen, Roberta L. Beauchamp, Irene Nobeli, Jerry Pelletier, Ola Larsson, Vijaya Ramesh   +12 more
doaj   +1 more source

Oncogenic role of MiR-130a in oral squamous cell carcinoma

Scientific Reports, 2021
Aberrant activation of the PI3K/AKT/mTOR pathway is attributed to the pathogenesis of oral squamous cell carcinoma (OSCC). In recent years, increasing evidence suggests the involvement of microRNAs (miRNAs) in oral carcinogenesis by acting as tumor ...
Karthik Mallela, Swamy Shivananda, Kodaganur S. Gopinath, Arun Kumar   +3 more
doaj   +1 more source

Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study

Translational Neuroscience, 2018
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population.
Almobarak Sulaiman, Almuhaizea Mohammad, Abukhaled Musaad, Alyamani Suad, Dabbagh Omar, Chedrawi Aziza, Khan Sameena, Aldhalaan Hesham   +7 more
doaj   +1 more source

TSC1/2 signaling complex is essential for peripheral naïve CD8+ T cell survival and homeostasis in mice. [PDF]

PLoS ONE, 2012
The PI3K-Akt-mTOR pathway plays crucial roles in regulating both innate and adaptive immunity. However, the role of TSC1, a critical negative regulator of mTOR, in peripheral T cell homeostasis remains elusive.
Lianjun Zhang, Hongbing Zhang, Lanlan Li, Yi Xiao, Enyu Rao, Zhuang Miao, Hui Chen, Lina Sun, Hongran Li, Guangwei Liu, Yong Zhao   +10 more
doaj   +1 more source

Moderate lifelong overexpression of tuberous sclerosis complex 1 (TSC1) improves health and survival in mice

Scientific Reports, 2017
The tuberous sclerosis complex 1/2 (TSC1/2) is an endogenous regulator of the mechanistic target of rapamycin (mTOR). While mTOR has been shown to play an important role in health and aging, the role of TSC1/2 in aging has not been fully investigated. In
Hong-Mei Zhang, Vivian Diaz, Michael E. Walsh, Yiqiang Zhang   +3 more
doaj   +1 more source

TSC1 controls distribution of actin fibers through its effect on function of Rho family of small GTPases and regulates cell migration and polarity.

PLoS ONE, 2013
The tumor-suppressor genes TSC1 and TSC2 are mutated in tuberous sclerosis, an autosomal dominant multisystem disorder. The gene products of TSC1 and TSC2 form a protein complex that inhibits the signaling of the mammalian target of rapamycin complex1 ...
Maki Ohsawa, Toshiyuki Kobayashi, Hidehiro Okura, Takashi Igarashi, Masashi Mizuguchi, Okio Hino   +5 more
doaj   +1 more source

Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes

Cell Reports, 2022
Summary: Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas. Despite a well-described monogenic etiology, the cellular pathogenesis
Adam Pietrobon, Julien Yockell-Lelièvre, Trevor A. Flood, William L. Stanford   +3 more
doaj   +1 more source