[1]
Fingar D.C., Blenis J.: Target of rapamycin (TOR): an integrator of nutrient and growth factor signals and coordinator of cell growth and cell cycle progression. Oncogene 2004; 23: 3151-3171.
[2]
Hay N., Sonenberg N.: Upstream and downstream of mTOR. Genes Dev 2004; 18: 1926-1945.
[3]
Martin D.E., Hall M.N.: The expanding TOR signaling network. Curr Opin Cell Biol 2005; 17: 158-166.
[4]
Perycz M., Świech Ł., Makilak A., et al.: mTOR w fizjologii i patologii układu nerwowego. Postępy Biol. Kom. 2007, 34: 511-525.
[5]
Dan H.C., Sun M., Yang L., et al.: Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. J Biol Chem 2002; 277: 35364-35370.
[6]
Inoki K., Li Y., Zhu T., et al.: TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signaling. Nat Cell Biol 2002; 4: 648-657.
[7]
Tee A.R., Manning B.D., Roux P.P., et al.: Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb Curr Biol 2003; 13: 1259-1268.
[8]
Zoncu R., Efevan A., Sabitini D.M.: mTOR: from growth signal integration to cancer, diabetes and ageing. Nat Rev Mol Cell Biol 2011; 12: 21-35.
[9]
Dazert E., Hall M.N.: mTOR signaling in disease. Current Opin Cell Biol 2011; 23: 744-755.
[10]
Wong M.: Mammalian Target of Rapamycin (mTOR) Pathways in Neurological Diseases Biomed J. 2013; 36: 40-50.
[11]
Wiencke R., Fackler I., Lisenmaier U., et al.: Antitumoral activity of rapamycin in renal angiomiolipoma associated with tuberous sclerosis complex, Am J Kidney Dis 2006; 48: 27-29.
[12]
Franz D.N., Balousova E., Sparagana S., et al.: Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): multicenter, randomized, double-blind, placebo-controlled phase 3 trial. Lancet 2013; 381: 125-32.
[13]
Schwartz R.A., Fernández G., Kotulska K., et al.: Tuberous sclerosis complex: advances in diagnosis, genetics and management. J Am Acad Dermatol 2007; 57: 189-202.
[14]
Sadowski K., Kotulska-Jóźwiak K., Jóźwiak S.: Rola of mTOR inhibitors in epilepsy treatment. Pharmacol Reports 2015; 67: 636-646.
[15]
Koenig M.K., Hebert A.A., Roberson J., et al.: Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin. Drugs R D 2012; 12: 121-126.
[16]
Kotulska K, Borkowska J, Jóźwiak S. Case report: Possible Prevention of Tuberous Sclerosis Complex Lesion. Pediatrics 2013; 132: 239-242
[17]
Krueger D.A., Care M.M., Holland K., et al.: Everolimus for subependymal giant-cell astrocytomas in Tuberous Sclerosis. N Engl J Med. 2010; 363: 1801-1811.
[18]
Kotulska K., Chmielewski D., Borkowska J., et al.: Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. Eur J Paediatr Neurol 2013; 17: 479-485.
[19]
Zeng L., Xu L., Gutmann D.H., Wong M.: Rapamycin prevents epilepsy in a mouse model of Tuberous Sclerosis Complex. Ann Neurol 2008; 63: 444-453.
[20]
Zeng L.H., Rensing N.R., Wong M.: The mammalian target of rapamycin signaling pathway mediates epileptogenesis in a model of temporal lobe epilepsy. J Neurosci 2009; 29: 6964-6972.
[21]
Kotulska K., Jurkiewicz E., Domańska-Pakieła D., et al.: Epilepsy in newborns with tuberous sclerosis complex. Eur J Paediatr Neurol 2014; 18: 714-721.
[22]
Li X.Y., Zhang L.Q., Zhang X.G., et al.: Association between AKT/mTOR signaling and malignancy grade of human gliomas. J Neurooncol 2011; 103: 453-458.
[23]
Nkashima M., Saitsu H., Takei N., et al.: Somatic mutations in the mTOR gene cause focal cortical dysplasia type IIb. Ann Neurol 2015; 78: 375-386.
[24]
Cai Z., Chen G., He W., et al.: Activation of mTOR: a culprit of Alzheimer’s disease? Neuropsychiatric Disease and Treatment 2015; 11: 1015-1030.
[25]
Erlich S., Alexandrovich A., Shohami E., et al.: Rapamycin is a neuroprotective treatment for traumatic brain injury. Neurobiol Dis. 2007; 26: 86-93.
[26]
Haemel A.K., O’Brian A.L., Teng J.M.: Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis. Arch Dermatol 2010; 146: 715-718.
[27]
Talos D.M., Sun H., Zhou X., et al.: The interaction between early life epilepsy and autistic-like behavior consequences: a role for the mammalian target of rapamycin (mTOR) pathways. PloS ONE 2012;
Address: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0035885
[28]
Raffo E., Coppola A., Ono T., et al.: A pulse rapamycin therapy for infantile spasm and associated cognitive decline. Neurobiol Dis 2011; 43: 322-329.
[29]
Troca-Marin J.A., Alves-Sampaio A., Montesinos M.L.: Deregulated mTOR-mediated translation in intellectual disability. Prog Neurobiol 2012; 96: 268-272.
[30]
Sharma A., Hoeffer C.A., Takayasu Y., et al.: Dysregulation of mTOR signaling in fragile X syndrome. J Neurosci 2010; 30: 694-702.
[31]
Troca-Marin J.A., Alves-Sampaio A., Montesinos M.L.: An increase in basal BDNF provokes hyperactivation of the Akt mammalian target of rapamycin pathway and deregulation of local dendritic translation in a mouse model of Down’s syndrome. J Neurosci 2011; 31: 9445-9455.
[32]
Ricciardi S., Boggio E.M., Grosso S., et al.: Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Hum Mol Genet 2011; 20: 1182-1196.
[33]
Bandhyopadhyay U., Cuervo A.M.: Chaperone-mediated autophagy in aging and neurodegeneration: lessons from alpha-synuclein. Exp Gerontol 2007; 42: 120-128.
[34]
Ravikumar B., Vacher C., Berger Z., et al.: Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet 2004; 36: 585-595
[35]
Berger Z., Ravikumar B., Menzies F.M., et al.: Rapamycin alleviates toxicity of different aggregate-prone proteins. Hum Mol Genet 2006; 15: 433-442.
[36]
Zhou J., Blundell J., Ogawa S., et al.: Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. J Neurosci 2009; 29: 1773-1783.
[37]
Malagelada C., Jin Z.H., Jackson-Lewis V., et al.: Rapamycin protects against neuron death in in vitro and in vivo models of Parkinson’s disease. J Neurosci 2010; 30: 1166-1175.
[38]
Kotulska K., Jóźwiak S.: Polskie standardy postępowania leczniczego w stwardnieniu guzowatym. Klinika Pediatr 2015, 23: 7105-7111.