Results 121 to 130 of about 18,866 (220)

MEK-ERK1/2-Dependent FLNA Overexpression Promotes Abnormal Dendritic Patterning in Tuberous Sclerosis Independent of mTOR

, 2014
SummaryAbnormal dendritic complexity is a shared feature of many neurodevelopmental disorders associated with neurological defects. Here, we found that the actin-crosslinking protein filamin A (FLNA) is overexpressed in tuberous sclerosis complex (TSC ...
Gong, Xuan, Hsieh, Lawrence S., Bartley, Christopher M., Lin, Tiffany V., Feliciano, David M., Bordey, Angélique, Zhang, Longbo   +6 more
core   +1 more source

MITF Gain‐of‐Function Mutation in Metastatic Prostate Cancer: A Rare Finding With Potential Therapeutic Significance

Cancer Reports, Volume 9, Issue 6, June 2026.
ABSTRACT Background Prostate cancer is the most common non‐cutaneous malignancy in men and remains a leading cause of cancer‐related mortality, particularly in aggressive variants. These tumors are usually associated with alterations in TP53, RB1, and PTEN.
Paul J. Pecorin, Nyembezi Dhliwayo, Matthew Demetrious, Ludimila Cavalcante, Veronica Rodriguez‐Bravo, Josep Domingo‐Domenech, Thomas Westbrook   +6 more
wiley   +1 more source

Polystyrene nanoplastics trigger pyroptosis in dopaminergic neurons through TSC2/TFEB-mediated disruption of autophagosome-lysosome fusion in Parkinson’s disease

Journal of Translational Medicine
Background Parkinson's disease (PD) is a sporadic neurodegenerative disorder with a rising incidence. Environmental toxins are considered the main etiological factor.
Xiaomei Liang, Yaqi Zeng, Piao Zhang, Baoyu Zhu, Jiezhu Feng, Tongtong Deng, Zhongling Fu, Chengshuai Liu, Chengyu Chen, Yuhu Zhang   +9 more
doaj   +1 more source

Decoding epilepsy's molecular blueprint: Machine learning unravels transcriptomic subtypes and regulatory networks

Epilepsia, Volume 67, Issue 6, Page 3211-3225, June 2026.
Abstract Objective Drug‐resistant epilepsy (DRE) affects approximately one‐third of patients with epilepsy. The molecular heterogeneity underlying DRE remains poorly defined, largely due to limited access to resected brain tissue and substantial genetic diversity.
Yanping Weng, Yu Ma, Wanwan Hou, Haibo Li, Yuanfeng Zhou, Rui Zhao, Hao Li, Lian Chen, Yangyang Ma, Li Jin, Yi Wang, Yu An   +11 more
wiley   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

Epilepsia, Volume 67, Issue 6, Page 3082-3107, June 2026.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk, Mary Anne Meskis, Galia Wilson, Bobby Jacob, Christoph Helmstaedter, Jane von Gaudecker, Veronica Hood, Ceri Hughes, Michael Scott Perry   +8 more
wiley   +1 more source

Survivin and tuberous sclerosis complex: an antiapoptotic protein expressed in neurons cells ao tubers

, 2004
Survivin is a new discovered antiapoptosic protein that regulates cell division and inhibits apoptosis by blocking caspase activation. Since Survivin overexpression occurs in most cancers, we investigated whether Survivin is expressed in hamartomas cells
R. Canger, B. Di Stefano, D. Boccardi, S. Bosari, L. Madaschi, S. Carelli, L. Caverni, M.P. Canevini, G. Lo Russo, R. Chifari, A. Piazzini, L. Tassi, R. Alfano, E. Lesma, A. Gorio   +14 more
core  

Clinical use and radiological yield of magnetic resonance fingerprinting in epilepsy

Epilepsia, Volume 67, Issue 6, Page 2954-2965, June 2026.
Abstract Objective Magnetic resonance fingerprinting (MRF) is a novel paradigm for magnetic resonance imaging (MRI) that efficiently generates multiparametric quantitative tissue property maps with a single acquisition. Its quantitative nature offers many advantages over conventional MRI.
Maksim Parfyonov, Ting‐Yu Su, Joon Yul Choi, Ingmar Blümcke, Ken Sakaie, Spencer Morris, Hiroatsu Murakami, Andreas Alexopoulos, Imad Najm, Dan Ma, Stephen E. Jones, Zhong Irene Wang   +11 more
wiley   +1 more source

Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex

, 2017
TSC1 and TSC2 are genes mutated in the syndrome TSC (tuberous sclerosis complex). We describe a 3-generation family with 17 affected members, all presenting classic TSC features except renal manifestations.
Østergaard, John R., Linnet, Karen Markussen, Pernille Axél Gregersen, Uffe Birk Jensen, Gregersen, Pernille Axél, Lisbeth Birk Møller, Schönewolf-Greulich, Bitten, Jensen, Uffe Birk, Mette Sommerlund, Sommerlund, Mette, Lasse Jonsgaard Larsen, Møller, Lisbeth Birk, Rosengren, Thomas, Larsen, Lasse Jonsgaard, Bitten Schönewolf-Greulich, Brian Stausbøl-Grøn, Karen Markussen Linnet, Stausbøl-Grøn, Brian, Thomas Rosengren, Ostenfeldt, Caroline, John R. Ostergaard, Caroline Ostenfeldt   +21 more
core   +1 more source

Chronic sleep deprivation promotes drug‐resistant epilepsy via the BMAL1‐mTOR‐P‐gp axis

Epilepsia Open, Volume 11, Issue 3, Page 1017-1027, June 2026.
Abstract Objective The interplay between chronic sleep deprivation and drug‐resistant epilepsy (DRE) has gained increasing attention. Brain and muscle Arnt‐like protein 1 (BMAL1), which is implicated in sleep disturbance, has an unclear role in DRE. We aimed to investigate the role of BMAL1 in sleep deprivation‐induced DRE. Methods A pentylenetetrazole
Xiaomeng Wang, Rui Li, Yuzhu Zhang, Yi Hu, Jingjiao Chen, Sijia Tian, Dong Zhou, Xiaosa Chi   +7 more
wiley   +1 more source

Investigating the use of mTOR inhibitors in Tuberous Sclerosis Complex [PDF]

, 2020
Tuberous Sclerosis Complex (TSC) is a genetic disease caused by variants in the tumour suppressor genes TSC1 and TSC2, located on chromosomes 9 and 16. (1, 2) Approximately 70% of cases are sporadic.
Amin, Sam
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