Results 1 to 10 of about 21,245 (155)

Impaired Chaperone-Mediated Autophagy Accelerates Intervertebral Disc Degeneration by Inducing MIDN Accumulation to Target TSC2 for Proteasomal Degradation. [PDF]

Adv Sci (Weinh)
This graphical abstract illustrates how chaperone‐mediated autophagy (CMA) regulates intervertebral disc degeneration (IDD). Under normal homeostasis (B), CMA degrades cytoplasmic Midnolin (MIDN) to maintain proteostasis. Under inflammatory stress (A), impaired CMA leads to cytoplasmic MIDN accumulation.
Chen X, Gao H, Wu W, Shi P, Chen Y, Zhang A, Cheng Z, Wu W, Yu Z, Zhang Y.   +9 more
europepmc   +2 more sources

The role of TSC2 in breast cancer: a literature review

Frontiers in Oncology, 2023
TSC2 is a tumor suppressor gene as well as a disease-causing gene for autosomal dominant disorder tuberous sclerosis complex (TSC). Research has found that some tumor tissues have lower TSC2 expression levels than normal tissues.
Qiao-Yan Zhu, Qiao-Yan Zhu, Zhe-Min He, Zhe-Min He, Wen-Ming Cao, Bei Li   +5 more
exaly   +3 more sources

Tuberous sclerosis complex 2 association with RelA/p65 is critical for NF-κB activation and endothelial cell inflammation [PDF]

Cell Communication and Signaling
Background Endothelial cell (EC) inflammation is a key component of many inflammatory conditions including sepsis and acute lung injury (ALI). However, the role of Tuberous Sclerosis Complex 2 (TSC2) in activating NF-κB and inflammatory response in EC ...
Imran Tahir, Rauf A. Najar, Arshad Rahman   +2 more
doaj   +2 more sources

An integrated, scaled approach to resolve TSC2 variants of uncertain significance [PDF]

Nature Communications
Obtaining a precise genetic tuberous sclerosis complex diagnosis is a challenge as many missense TSC2 variants are variants of uncertain significance. Variants of uncertain significance in TSC2 have been resolved by one-at-a-time functional assays, but ...
Carina G. Biar, Ziyu R. Wang, Nathan D. Camp, Daniel L. Holmes, Melinda K. Wheelock, Sriram Pendyala, Abby V. McGee, Pankhuri Gupta, Abbye E. McEwen, Malvika Tejura, Marcy E. Richardson, Jamie D. Weyandt, Taylor Coleman, Alan F. Rubin, Nick Moore, Ross Stewart, Daniel Zeiberg, Allyssa J. Vandi, Samantha Dawson, Predrag Radivojac, Lea M. Starita, Gemma L. Carvill, Richard G. James, Douglas M. Fowler, Jeffrey D. Calhoun   +24 more
doaj   +2 more sources

Elastomeric 3D-Printed Microenvironments Enable Nanonewton Force Measurements in Healthy and Diseased Human Pluripotent Stem Cell-Derived Neuroepithelial Cells. [PDF]

Adv Mater
We present elastomeric three‐dimensional (3D) microstructures fabricated via two‐photon polymerization (2PP) and post‐processed through wet etching, for quantifying nanonewton (nN)‐scale forces applied by healthy and diseased neural cells. The mechanically characterized free‐standing beam architectures enable measurement of traction forces of ...
van Altena PFJ, Ransanz LC, Guis RH, Bergamaschi G, Paauw NJ, Staufer U, Heine VM, Accardo A.   +7 more
europepmc   +2 more sources

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, Zi-Hua Wang, Jun-Shi Zhang, Jun-Nan Guo, Xu-Hong Lin, Lei An   +5 more
doaj   +1 more source

p38 regulates the tumor suppressor PDCD4 via the TSC-mTORC1 pathway

Cell Stress, 2021
Programmed cell death protein 4 (PDCD4) exerts critical functions as tumor suppressor and in immune cells to regulate inflammatory pro-cesses. The phosphoinositide 3-kinase (PI3K) promotes degradation of PDCD4 via mammalian target of rapamycin complex 1 (
Clarissa Braun, Karl Katholnig, Christopher Kaltenecker, Monika Linke, Nyamdelger Sukhbaatar, Markus Hengstschläger, Thomas Weichhart   +6 more
doaj   +1 more source

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, Vera Grande, Silvia Ancona, Stephana Carelli, Anna Maria Di Giulio, Alfredo Gorio   +5 more
doaj   +1 more source

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, Melane L James, Tatiana V Kudryashova, Dmitry A Goncharov, Vera P Krymskaya   +4 more
doaj   +1 more source

Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations

Erciyes Medical Journal, 2020
Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. TSC arises from mutations in either TSC1, at 9q34, or TSC2, at 16p13.3. Skin lesions, such as hypomelanotic macules, facial angiofibromas, shagreen patches, and
Esra Işık, Hüseyin Onay, Tahir Atık, Aslı Ece Solmaz, Demet Terek, Sarenur Gökben, Hasan Tekgül, Ertürk Levent, Mehmet Kantar, Nilgün Kültürsay, Özgür Çoğulu, Ferda Özkınay   +11 more
doaj   +1 more source