Results 31 to 40 of about 20,510 (176)

Regulation of TSC2 lysosome translocation and mitochondrial turnover by TSC2 acetylation status

Scientific Reports
AbstractSirtuin1 (SIRT1) activity decreases the tuberous sclerosis complex 2 (TSC2) lysine acetylation status, inhibiting the mechanistic target of rapamycin complex 1 (mTORC1) signalling and concomitantly, activating autophagy. This study analyzes the role of TSC2 acetylation levels in its translocation to the lysosome and the mitochondrial turnover ...
Patricia Marqués, Jesús Burillo, Carlos González-Blanco, Beatriz Jiménez, Gema García, Ana García-Aguilar, Sarai Iglesias-Fortes, Ángela Lockwood, Carlos Guillén   +8 more
openaire   +5 more sources

Resistance to anti-HER2 therapy associated with the TSC2 nonsynonymous variant c.4349 C > G (p.Pro1450Arg) is reversed by CDK4/6 inhibitor in HER2-positive breast cancer

npj Breast Cancer, 2023
HER2-positive breast cancer patients carrying the germline TSC2 nonsynonymous variant c.4349 C > G (p.Pro1450Arg) are resistant to anti-HER2 therapy. Multi-predictor in silico analysis reveals that this variant is deleterious.
Ziyan Yang, Jianguo Feng, Ji Jing, Yuan Huang, Wei-Wu Ye, Lei Lei, Xiao-Jia Wang, Wen-Ming Cao   +7 more
doaj   +1 more source

Tsc2-Rheb signaling regulates EphA-mediated axon guidance [PDF]

Nature Neuroscience, 2010
Tuberous sclerosis complex is a disease caused by mutations in the TSC1 or TSC2 genes, which encode a protein complex that inhibits mTOR kinase signaling by inactivating the Rheb GTPase. Activation of mTOR promotes the formation of benign tumors in various organs and the mechanisms underlying the neurological symptoms of the disease remain largely ...
Nie D, Di Nardo A, Han JM, Baharanyi H, Kramvis I, Huynh T, Dabora S, Codeluppi S, PANDOLFI DE RINALDIS, Pier Paolo, Pasquale EB, Sahin M.   +10 more
openaire   +3 more sources

Vps34-mediated macropinocytosis in Tuberous Sclerosis Complex 2-deficient cells supports tumorigenesis

Scientific Reports, 2018
Tuberous Sclerosis Complex (TSC), a rare genetic disorder with mechanistic target of rapamycin complex 1 (mTORC1) hyperactivation, is characterized by multi-organ hamartomatous benign tumors including brain, skin, kidney, and lung ...
Harilaos Filippakis, Amine Belaid, Brian Siroky, Constance Wu, Nicola Alesi, Thomas Hougard, Julie Nijmeh, Hilaire C. Lam, Elizabeth P. Henske   +8 more
doaj   +1 more source

Identifcation of genotypescarriers of resistance to tan spot Ptr ToxA and Ptr ToxB of Pyrenophora tritici-repentis in common wheat collection

Вавиловский журнал генетики и селекции, 2019
Pyrenophora tritici-repentis (Ptr) is the causative agent of tan spot, one of the yield limiting diseases of wheat, rapidly increasing in wheat growing countries including Kazakhstan.
A. М. Kokhmetova, Sh. Ali, Z. Sapakhova, M. N. Atishova   +3 more
doaj   +1 more source

Microglial ASD-related genes are involved in oligodendrocyte differentiation

Scientific Reports, 2021
Autism spectrum disorders (ASD) are associated with mutations of chromodomain-helicase DNA-binding protein 8 (Chd8) and tuberous sclerosis complex 2 (Tsc2).
Yuta Takanezawa, Shogo Tanabe, Daiki Kato, Rie Ozeki, Masayo Komoda, Tatsunori Suzuki, Hiroko Baba, Rieko Muramatsu   +7 more
doaj   +1 more source

Hypoxia-inducible factor-1α polymorphisms and TSC1/2 mutations are complementary in head and neck cancers

Molecular Cancer, 2006
Background Polymorphisms or mutations in hypoxia inducible factor-1 alpha (HIF-1alpha) that increases its activity and stability under normoxia have recently been identified.
Nikitakis Nikolaos G, Ord Robert A, Parashar Pallavi, Norris Kathleen, Hebert Carla, Sauk John J   +5 more
doaj   +1 more source

Upregulation of acid ceramidase contributes to tumor progression in tuberous sclerosis complex

JCI Insight, 2023
Tuberous sclerosis complex (TSC) is characterized by multisystem, low-grade neoplasia involving the lung, kidneys, brain, and heart. Lymphangioleiomyomatosis (LAM) is a progressive pulmonary disease affecting almost exclusively women.
Aristotelis Astrinidis, Chenggang Li, Erik Y. Zhang, Xueheng Zhao, Shuyang Zhao, Minzhe Guo, Tasnim Olatoke, Ushodaya Mattam, Rong Huang, Alan G. Zhang, Lori Pitstick, Elizabeth J. Kopras, Nishant Gupta, Roman Jandarov, Eric P. Smith, Elizabeth Fugate, Diana Lindquist, Maciej M. Markiewski, Magdalena Karbowniczek, Kathryn A. Wikenheiser-Brokamp, Kenneth D. R. Setchell, Francis X. McCormack, Yan Xu, Jane J. Yu   +23 more
doaj   +1 more source

Exosomes originating from neural stem cells undergoing necroptosis participate in cellular communication by inducing TSC2 upregulation of recipient cells following spinal cord injury

Neural Regeneration Research
We previously demonstrated that inhibiting neural stem cells necroptosis enhances functional recovery after spinal cord injury. While exosomes are recognized as playing a pivotal role in neural stem cells exocrine function, their precise function in ...
Shiming Li, Jianfeng Li, Guoliang Chen, Tao Lin, Penghui Zhang, Kuileung Tong, Ningning Chen, Shaoyu Liu   +7 more
doaj   +1 more source

Exome sequencing of Saudi Arabian patients with ADPKD

Renal Failure, 2019
Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP)
Fahad A. Al-Muhanna, Abdullah M. Al-Rubaish, Chittibabu Vatte, Shamim Shaikh Mohiuddin, Cyril Cyrus, Arafat Ahmad, Mohammed Shakil Akhtar, Mohammad Ahmad Albezra, Rudaynah A. Alali, Afnan F. Almuhanna, Kai Huang, Lusheng Wang, Feras Al-Kuwaiti, Tamer S. Ahmed Elsalamouni, Abdullah Al Hwiesh, Xiaoyan Huang, Brendan Keating, Jiankang Li, Matthew B. Lanktree, Amein K. Al-Ali   +19 more
doaj   +1 more source