| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Paolo Curatolo, Mirte Scheper, Leonardo Emberti Gialloreti, Nicola Specchio, Eleonora Aronic. Is tuberous sclerosis complex-associated autism a preventable and treatable disorder? World journal of pediatrics : WJP. 2023-10-25. PMID:37878130. |
the mtor pathway plays a crucial role in several brain processes leading to tsc-related epilepsy, intellectual disability, and autism spectrum disorder (asd). |
2023-10-25 |
2023-11-08 |
Not clear |
| David A Narvaiz, Suzanne O Nolan, Gregory D Smith, Andrew J Holley, Conner D Reynolds, Katherine J Blandin, Phuoc H Nguyen, Doan L K Tran, Joaquin N Lug. Rapamycin improves social and stereotypic behavior abnormalities induced by pre-mitotic neuronal subset specific Pten deletion. Genes, brain, and behavior. 2023-06-28. PMID:37376966. |
in both patients and rodent models, mutations to the phosphatase and tensin homolog gene (pten) on chromosome 10 results in hyperactivation of the mtor pathway, as well as seizures, intellectual disabilities and autistic behaviors. |
2023-06-28 |
2023-08-14 |
mouse |
| Martina Proietti Onori, Linda M C Koene, Carmen B Sch\\xc3\\xa4fer, Mark Nellist, Marcel de Brito van Velze, Zhenyu Gao, Ype Elgersma, Geeske M van Woerde. RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity. PLoS biology. vol 19. issue 5. 2021-09-07. PMID:34038402. |
hyperactivation of the mammalian target of rapamycin (mtor) pathway can cause malformation of cortical development (mcd) with associated epilepsy and intellectual disability (id) through a yet unknown mechanism. |
2021-09-07 |
2023-08-13 |
mouse |
| Rebecca L Poole, Philippa D K Curry, Ruta Marcinkute, Carole Brewer, David Coman, Emma Hobson, Diana Johnson, Sally Ann Lynch, Anand Saggar, Claire Searle, Ingrid Scurr, Peter D Turnpenny, Pradeep Vasudevan, Katrina Tatton-Brow. Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G\\xc2\\xa0>\\xe2\\x80\\x89A p.(Glu1799Lys) missense variant. American journal of medical genetics. Part A. vol 185. issue 8. 2021-08-23. PMID:34032352. |
in addition, in the absence of functional studies, we suggest that the combination of the sks major clinical features of megalencephaly (where the head circumference is at least 3sd) and an intellectual disability with a de novo mtor missense variant (absent from population databases) should be considered diagnostic for sks. |
2021-08-23 |
2023-08-13 |
Not clear |
| Rebecca L Poole, Philippa D K Curry, Ruta Marcinkute, Carole Brewer, David Coman, Emma Hobson, Diana Johnson, Sally Ann Lynch, Anand Saggar, Claire Searle, Ingrid Scurr, Peter D Turnpenny, Pradeep Vasudevan, Katrina Tatton-Brow. Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G\\xc2\\xa0>\\xe2\\x80\\x89A p.(Glu1799Lys) missense variant. American journal of medical genetics. Part A. vol 185. issue 8. 2021-08-23. PMID:34032352. |
smith-kingsmore syndrome (sks) is a rare genetic syndrome associated with megalencephaly, a variable intellectual disability, autism spectrum disorder, and mtor gain of function variants. |
2021-08-23 |
2023-08-13 |
Not clear |
| Cristiana Pelorosso, Fran\\xc3\\xa7oise Watrin, Valerio Conti, Emmanuelle Buhler, Antoinette Gelot, Xiaoxu Yang, Davide Mei, Jennifer McEvoy-Venneri, Jean-Bernard Manent, Valentina Cetica, Laurel L Ball, Anna Maria Buccoliero, Antonin Vinck, Carmen Barba, Joseph G Gleeson, Renzo Guerrini, Alfonso Repres. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. Human molecular genetics. vol 28. issue 22. 2020-06-15. PMID:31411685. |
in a patient with hme, severe intellectual disability, intractable seizures and hypochromic skin patches, we identified the ribosomal protein s6 (rps6) p.r232h variant, present as somatic mosaicism at ~15.1% in dysplastic brain tissue and ~11% in blood, and the mtor p.s2215f variant, detected as ~8.8% mosaicism in brain tissue, but not in blood. |
2020-06-15 |
2023-08-13 |
Not clear |
| Maureen Handoko, Lisa T Emrick, Jill A Rosenfeld, Xia Wang, Alyssa A Tran, Alicia Turner, John W Belmont, Brendan H Lee, Carlos A Bacino, Hsiao-Tuan Cha. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. American journal of medical genetics. Part A. vol 179. issue 3. 2020-04-16. PMID:30569621. |
megalencephaly with cutis tri-color of the blaschko-linear type pigmentary mosaicism and intellectual disability is a rare neurodevelopmental disorder attributed to the recurrent mosaic c.5930c\xe2\x80\x89>\xe2\x80\x89t (p.thr1977ile) mtor variant. |
2020-04-16 |
2023-08-13 |
Not clear |
| Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronic. mTOR dysregulation and tuberous sclerosis-related epilepsy. Expert review of neurotherapeutics. vol 18. issue 3. 2019-03-07. PMID:29338461. |
mtor signaling dysregulation represents a common pathogenic mechanism in a subset of malformations of cortical development, sharing histopathological and clinical features, including epilepsy, autism, and intellectual disability. |
2019-03-07 |
2023-08-13 |
Not clear |
| Peter B Crin. The mTOR signalling cascade: paving new roads to cure neurological disease. Nature reviews. Neurology. vol 12. issue 7. 2018-08-13. PMID:27340022. |
alterations in the dual contributions of mtor - regulation of cell growth and proliferation, as well as autophagy and cell death - have been found in developmental brain malformations, epilepsy, autism and intellectual disability, hypoxic-ischaemic and traumatic brain injuries, brain tumours, and neurodegenerative disorders. |
2018-08-13 |
2023-08-13 |
Not clear |
| M R F Reijnders, M Kousi, G M van Woerden, M Klein, J Bralten, G M S Mancini, T van Essen, M Proietti-Onori, E E J Smeets, M van Gastel, A P A Stegmann, S J C Stevens, S H Lelieveld, C Gilissen, R Pfundt, P L Tan, T Kleefstra, B Franke, Y Elgersma, N Katsanis, H G Brunne. Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Nature communications. vol 8. issue 1. 2018-04-30. PMID:29051493. |
de novo mutations in specific mtor pathway genes cause brain overgrowth in the context of intellectual disability (id). |
2018-04-30 |
2023-08-13 |
human |
| Camila Oliveira Freitas Machado, Karina Griesi-Oliveira, Carla Rosenberg, Fernando Kok, Stephanie Martins, Maria Rita Passos-Bueno, Andrea Laurato Serti. Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism. European journal of human genetics : EJHG. vol 24. issue 1. 2016-09-19. PMID:25898924. |
collybistin (cb), a neuron-specific rho-gef responsible for x-linked intellectual disability with epilepsy, also interacts with eif3, and its binding partner gephyrin associates with mtor. |
2016-09-19 |
2023-08-13 |
Not clear |
| Jamie K Capal, David Neal Fran. Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy. Neuropsychiatric disease and treatment. vol 12. 2016-09-07. PMID:27601910. |
also, there are no approved treatments for tsc-associated neuropsychiatric disorders, which include intellectual disability, behavioral difficulties, and autism spectrum disorder, but preclinical data and small studies have suggested that some neuropsychiatric symptoms may be improved through mtor inhibition therapy. |
2016-09-07 |
2023-08-13 |
Not clear |
| Gareth Baynam, Angela Overkov, Mark Davis, Kym Mina, Lyn Schofield, Richard Allcock, Nigel Laing, Matthew Cook, Hugh Dawkins, Jack Goldblat. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. American journal of medical genetics. Part A. vol 167. issue 7. 2016-03-17. PMID:25851998. |
a germline mtor mutation in aboriginal australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. |
2016-03-17 |
2023-08-13 |
human |
| Jessica A Burket, Andrew D Benson, Amy H Tang, Stephen I Deutsc. NMDA receptor activation regulates sociability by its effect on mTOR signaling activity. Progress in neuro-psychopharmacology & biological psychiatry. vol 60. 2016-01-22. PMID:25703582. |
interestingly, the severity of the intellectual disability in tuberous sclerosis complex may relate more to this metabolic disturbance (i.e., overactivity of mtor signaling) than the density of cortical tubers. |
2016-01-22 |
2023-08-13 |
mouse |
| Jos\\xc3\\xa9 Antonio Troca-Mar\\xc3\\xadn, Alexandra Alves-Sampaio, Mar\\xc3\\xada Luz Montesino. Deregulated mTOR-mediated translation in intellectual disability. Progress in neurobiology. vol 96. issue 2. 2012-06-05. PMID:22285767. |
hyperactivation of mtor has been recently reported in mouse models of fragile x and tuberous sclerosis, two important causes of intellectual disability. |
2012-06-05 |
2023-08-12 |
mouse |