Results 51 to 60 of about 25,325 (232)

Anodal Transcranial Direct Current Stimulation Improves Social Behavior Alongside Neuroplastic Changes in a Tsc2+/− Rat Model of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by altered synaptic connectivity and network organization, resulting in profound impairments in social communication and interaction. Transcranial direct current stimulation (tDCS) represents a promising approach to modulate maladaptive plasticity associated with ASD;
Antonia Ramme, Rebecca Winter, Natalia Jarzebska, Fatih Ögel, Marten Julian Richter, Iveta Vojtechova, Christine Winter, Tomas Petrasek, Robert Waltereit, Nadine Bernhardt   +9 more
wiley   +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

Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis. [PDF]

PLoS ONE, 2014
Tuberous sclerosis syndrome (TSC) is an autosomal dominant tumor suppressor gene syndrome affecting multiple organs, including renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM).
Chenggang Li, Erik Zhang, Yang Sun, Po-Shun Lee, Yongzhong Zhan, Yanan Guo, Juan C Osorio, Ivan O Rosas, Kai-Feng Xu, David J Kwiatkowski, Jane J Yu   +10 more
doaj   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +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

Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex

Human Genomics, 2023
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder.
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda   +8 more
doaj   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development

Epilepsia, EarlyView.
Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Interactions between TSC2 and the TSC1delex proteins.

, 2014
C-terminal myc-tagged TSC1delex proteins were co-expressed with TSC2 in transfected HEK 293T cells. TSC1-TSC2 complexes were immunoprecipitated with an antibody specific for the myc tag.
Marianne Hoogeveen-Westerveld (549062), Ans van den Ouweland (89937), Ushio Kikkawa (226238), Anneke Maat-Kievit (549063), Dicky Halley (366558), Mark Nellist (549064), Arthur Jorge Santiago Lima (549061), Akio Nakashima (271973)   +7 more
core   +1 more source

TSC2 Deficiency Increases PTEN via HIF1α [PDF]

Journal of Biological Chemistry, 2009
Substantial evidence suggests roles of TSC2 and PTEN in the development of cancer predisposition syndromes. Loss of TSC2 results in benign tumors, neurological disorders, and angiomyolipomas. We found that PTEN mRNA and protein levels are elevated in Tsc2(-/-) mouse embryo fibroblasts with concomitant reduction in Akt phosphorylation. Reconstitution of
Lenin, Mahimainathan, Nandini, Ghosh-Choudhury, Balachandar, Venkatesan, Falguni, Das, Chandi C, Mandal, Nirmalya, Dey, Samy L, Habib, Balakuntalam S, Kasinath, Hanna E, Abboud, Goutam, Ghosh Choudhury   +9 more
openaire   +2 more sources

Refining diagnostic boundaries and electroclinical profiles of Lennox–Gastaut syndrome through unsupervised clustering

Epilepsia, EarlyView.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy defined by polymorphic seizures, intellectual disability (ID), and characteristic electroencephalographic (EEG) patterns. The applicability and biological validity of current electroclinical criteria remain debated.
Emanuele Cerulli Irelli, Marco Perulli, Maria S. Borioni, Anna Falco, Adolfo Mazzeo, Enrico Cocchi, Maria L. Gambardella, Alessandra Morano, Michela Quintiliani, Maria Picilli, Anna T. Giallonardo, Carlo Di Bonaventura, Domenica I. Battaglia   +12 more
wiley   +1 more source