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Zhiguo Li, Yifan Kong, Longzhen Song, Qian Luo, Jinghui Liu, Chen Shao, Xianzeng Hou, Xiaoqi Liu
The AKT/TSC/mTOR axis is an important pathway controlling cell growth, survival and proliferation in response to extracellular cues. Recently, it was reported that AKT activity fluctuates across the cell cycle. However, it remains unclear whether downstream targets of AKT are also regulated by the cell cycle. Here we report that mTORC1 activity inversely correlates with AKT activity during the cell cycle. Mechanistically, Plk1 phosphorylation of TSC1 at S467 and S578 interfered with TSC1/TSC2 binding, destabilized TSC1, promoted dissociation of the TSC complex from the lysosome, and eventually led to mTORC1 activation...
March 20, 2018: Cancer Research
Marina Flotats-Bastardas, Daniel Ebrahimi-Fakhari, Ludwig Gortner, Martin Poryo, Michael Zemlin, Alfons Macaya-Ruiz, Sascha Meyer
Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982-2015, and at Saarland University Medical Center [UKS], Homburg, Germany, 1998-2015) to assess prevalence and treatment of TSC associated manifestations and to evaluate if the follow-up was in line with published recommendations. This was considered if more than 15% of patients did not receive adequate examination with regard to potential organ involvement...
March 20, 2018: Neuropediatrics
Massimo Zimbone, Annalinda Contino, Giuseppe Maccarrone, Paolo Musumeci, Maria Josè Josè Lo Faro, Lucia Calcagno
The stability of silver nanoplatelet suspensions prepared with different concentrations of Trisodium Citrate (TSC) was studied by depolarized dynamic light scattering and UV-vis spectrometry. The morphology of the nanoparticles, as well as the color and stability of the sols, are tuned by the concentration of the capping agent. The nanoparticles prepared with high TSC concentration (> 10-4 M) are blue triangular nanoplatelets showing a slight truncation of the tips with aging. When low TSC concentrations are used, the color of the sols changes from blue to yellow with aging time and a strong modification of the morphology occurs: the nanoparticle shape changes from triangular to spherical...
March 20, 2018: Nanotechnology
Chang-Ching Wei, Ji-Nan Sheu, Jung-Tung Liu, Sheng-Hui Yang, I-Ching Chou, Jeng-Dau Tsai
BACKGROUND: Seizures in tuberous sclerosis complex (TSC) tend to be intractable over time and become a subsequent psychological burden for the patients. The purpose of the current study was to describe the onset, phenotype, and factors associated with seizure remission in patients with TSC. METHODS: Patients diagnosed with TSC between 2009 and 2015 completed a questionnaire interview and underwent a systematic evaluation, including a medical review of their epilepsy history and neurobehavioral disorder assessment...
March 15, 2018: Journal of the Chinese Medical Association: JCMA
Yi Cai, Wenda Wang, Hao Guo, Hanzhong Li, Yu Xiao, Yushi Zhang
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by tumor formation in multiple organs, with over 80% of TSC patients developing angiomyolipomas (TSC-AMLs). However, the molecular events that contribute to TSC-AMLs are not well understood. Recent reports have demonstrated that microRNAs (miRNAs) are critical in TSC cortical tubers. However, little is known about the role of miRNAs in TSC-AMLs. In the current study, we analyzed changes in the miRNA and mRNA profiles in TSC-AMLs and matched normal adjacent tissues...
March 14, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
Katherine B Santosa, Alexandra M Keane, Albina Jablonka-Shariff, Bianca Vannucci, Alison K Snyder-Warwick
The terminal Schwann cell (tSC), a type of nonmyelinating Schwann cell, is a significant yet relatively understudied component of the neuromuscular junction. In addition to reviewing the role tSCs play on formation, maintenance, and remodeling of the synapse, we review studies that implicate tSCs in neuromuscular diseases including spinal muscular atrophy, Miller-Fisher syndrome, and amyotrophic lateral sclerosis, among others. We also discuss the importance of these cells on degeneration and regeneration after nerve injury...
March 13, 2018: Journal of Neuroscience Research
Loren Leclezio, Sugnet Gardner-Lubbe, Petrus J de Vries
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with multisystem involvement. The lifetime prevalence of TSC-Associated Neuropsychiatric Disorders (TAND) is in the region of 90% in an apparently unique, individual pattern. This "uniqueness" poses significant challenges for diagnosis, psycho-education, and intervention planning. To date, no studies have explored whether there may be natural clusters of TAND. The purpose of this feasibility study was (1) to investigate the practicability of identifying natural TAND clusters, and (2) to identify appropriate multivariate data analysis techniques for larger-scale studies...
January 31, 2018: Pediatric Neurology
Mohammad Akbari, Nasser Mahna, Katam Ramesh, Ali Bandehagh, Silvia Mazzuca
Pistachio, one of the important tree nuts, is cultivated in arid and semi-arid regions where salinity is the most common abiotic stress encountered by this tree. However, the mechanisms underlying salinity tolerance in this plant are not well understood. In the present study, five 1-year-old pistachio rootstocks (namely Akbari, Badami, Ghazvini, Kale-Ghouchi, and UCB-1) were treated with four saline water regimes (control, 8, 12, and 16 dS m-1 ) for 100 days. At high salinity level, all rootstocks showed decreased relative water content (RWC), total chlorophyll content (TCHC), and carotenoids in the leaf, while ascorbic acid (AsA) and total soluble proteins (TSP) were reduced in both leaf and root organs...
March 12, 2018: Protoplasma
Nanqiang Shang, Qingguo Chen, Xinzhe Wei
The conductivity mismatch in the composite insulation of high voltage direct current (HVDC) cable accessories causes electric field distribution distortion and even insulation breakdown. Therefore, a liquid silicone rubber (LSR) filled with SiC nanoparticles is prepared for the insulation of cable accessories. The micro-morphology of the SiC/LSR nanocomposites is observed by scanning electron microscopy, and their trap parameters are characterized using thermal stimulated current (TSC) tests. Moreover, the dielectric properties of SiC/LSR nanocomposites with different SiC concentrations are tested...
March 8, 2018: Materials
Barbara Ogórek, Hilaire C Lam, Damir Khabibullin, Heng-Jia Liu, Julie Nijmeh, Robinson Triboulet, David J Kwiatkowski, Richard I Gregory, Elizabeth P Henske
Tuberous Sclerosis Complex (TSC) is an autosomal dominant disease caused by germline inactivating mutations of TSC1 or TSC2. In TSC-associated tumors of the brain, heart, skin, kidney, and lung, inactivation of both alleles of TSC1 or TSC2 leads to hyperactivation of the mTORC1 pathway. The TSC/mTORC1 pathway is a key regulator of cellular processes related to growth, proliferation and autophagy. We and others have previously found that mTORC1 regulates microRNA biogenesis, but the mechanisms are not fully understood...
March 2, 2018: Human Molecular Genetics
Uros Midic, Benjamin Goheen, Kailey A Vincent, Catherine A VandeVoort, Keith E Latham
Trophoblast stem cells (TSCs) are crucial for embryo implantation and placentation. Environmental toxicants that compromise TSC function could impact fetal viability, pregnancy, and progeny health. Understanding the effects of low, chronic EDC exposures on TSCs and pregnancy is a priority in developmental toxicology. Differences in early implantation between primates and other mammals make a nonhuman primate model ideal. We examined effects of chronic low-level exposure to atrazine, tributyltin, bisphenol A, bis(2-ethylhexyl) phthalate, and perfluorooctanoic acid on rhesus monkey TSCs in vitro by RNA sequencing...
March 2, 2018: Reproductive Toxicology
Anna Papadopoulou, Argyrios Dinopoulos, George Koutsodontis, Roser Pons, Pelagia Vorgia, Vasiliki Koute, Athanassios Vratimos, Dimitrios Zafeiriou
Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
Qian Shi, Suryavathi Viswanadhapalli, William E Friedrichs, Chakradhar Velagapudi, Cédric Szyndralewiez, Shweta Bansal, Manzoor A Bhat, Goutam Ghosh Choudhury, Hanna E Abboud
The mechanism by which TSC2 inactivation or deficiency contributes to the pathology of tuberous sclerosis complex (TSC) is not fully clear. We show that renal angiomyolipomas from TSC patients and kidney cortex from Tsc2+/- mice exhibit elevated levels of reactive oxygen species (ROS). Downregulation of tuberin (protein encoded by TSC2 gene) in renal proximal tubular epithelial cells significantly increased ROS concomitant with enhanced Nox4. Similarly, we found elevated levels of Nox4 in the renal cortex of Tsc2+/- mice and in the renal angiomyolipomas from TSC patients...
February 28, 2018: Scientific Reports
J Trickett, M Heald, C Oliver, C Richards
BACKGROUND: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies...
March 1, 2018: Journal of Neurodevelopmental Disorders
Sonia Nath, Jayant Prakash, Narendra Nath Singh, Virendra Kumar Prajapati
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem genetic disorder. It is characterised by formation of benign hamartomas, neurofibromas, and angiofibromas located in different organs. We describe a case of a 13-year boy who complained of gingival enlargement. Clinical examination showed distinctive dermatological signs like hypopigmented macules, shagreen plaques, miliary fibromas, fibrous plaques and multiple angiofibromas. Oral manifestation included localised gingival enlargement. Gingivectomy was performed and the excised tissue was submitted for histopathological examination...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Daphne M Hasbani, Peter B Crino
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. There are over 2000 known allelic variants for TSC, including nonsense and misssense mutation, and all pathogenic mutations are inactivating, leading to loss-of-function effects on the encoded proteins, TSC1 and TSC2. These proteins form a complex to constitutively inhibit the mammalian target of rapamycin (mTOR) signaling cascade, and as a consequence, mTOR signaling is constitutively active within all TSC-associated lesions...
2018: Handbook of Clinical Neurology
Yi Yu, Yuyan Xiong, Jean-Pierre Montani, Zhihong Yang, Xiu-Fen Ming
Type-II L-arginine:ureahydrolase, arginase-II (Arg-II), is shown to activate mechanistic target of rapamycin complex 1 (mTORC1) pathway and contributes to cell senescence and apoptosis. In an attempt to elucidate the underlying mechanism, we identified myosin-1b (Myo1b) as a mediator. Overexpression of Arg-II induces re-distribution of lysosome and mTOR but not of tuberous sclerosis complex (TSC) from perinuclear area to cell periphery, dissociation of TSC from lysosome and activation of mTORC1-ribosomal protein S6 kinase 1 (S6K1) pathway...
February 22, 2018: Cell Death & Disease
G K Kundu, S Ahmed, S Akhter, M T Islam, T Dwa, A M Sabbir
Tuberous sclerosis complex (TSC) is a common neurocutaneous disorder characterized by hamartomatous changes in the lungs, brain, kidneys, skin, heart, and other organs. This retrospective study was done to see the clinical presentation and neuro imaging pattern of TSC in a tertiary care centre of Bangladesh and was conducted at Pediatric Neurology Unit of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from January 2013 to December 2013. Among total 10 patients male-female ratio was 3:2...
January 2018: Mymensingh Medical Journal: MMJ
Michael Karsy, Daxa M Patel, Robert J Bollo
Magnetic resonance imaging-guided stereotactic laser ablation of intracranial targets, including brain tumors, has expanded dramatically over the past decade, but there have been few reports of complications, especially those occurring in a delayed fashion. Laser ablation of subependymal giant cell astrocytomas (SEGAs) is an attractive alternative to maintenance immunotherapy in some children with tuberous sclerosis complex (TSC); however, the effect of treatment on disease progression and the nature and frequency of potential complications remains largely unknown...
February 16, 2018: Journal of Neurosurgery. Pediatrics
Maria Sundberg, Ivan Tochitsky, David E Buchholz, Kellen Winden, Ville Kujala, Kush Kapur, Deniz Cataltepe, Daria Turner, Min-Joon Han, Clifford J Woolf, Mary E Hatten, Mustafa Sahin
Accumulating evidence suggests that cerebellar dysfunction early in life is associated with autism spectrum disorder (ASD), but the molecular mechanisms underlying the cerebellar deficits at the cellular level are unclear. Tuberous sclerosis complex (TSC) is a neurocutaneous disorder that often presents with ASD. Here, we developed a cerebellar Purkinje cell (PC) model of TSC with patient-derived human induced pluripotent stem cells (hiPSCs) to characterize the molecular mechanisms underlying cerebellar abnormalities in ASD and TSC...
February 15, 2018: Molecular Psychiatry
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