Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8480507 | Seminars in Cell & Developmental Biology | 2014 | 7 Pages |
Abstract
Mutations affecting the genes that encode upstream components in the mammalian (or mechanistic) target of rapamycin signalling pathway are associated with a group of rare inherited and developmental disorders that show overlapping clinical features. These include predisposition to a variety of benign or malignant tumours, localized overgrowth, developmental abnormalities of the brain, neurodevelopmental disorders and epilepsy. Many of these features have been linked to hyperactivation of signalling via mammalian target of rapamycin complex 1, suggesting that inhibitors of this complex such as rapamycin and its derivatives may offer new opportunities for therapy. In this review we describe this group of inherited and developmental disorders and discuss recent progress in their treatment via mTORC1 inhibition.
Keywords
RHEBKTSPIK3CAmTORC1PJSSTK11PDK1PHTSPIP3PRKAG2mTORC2PIP2S6KAMPKPIK3R2mTOR complex 2AngiomyolipomasADNFLEPMSEBannayan-Riley-Ruvalcaba syndromeAMLMCAPDEPDC5eukaryotic initiation factor 4E-binding proteinphosphatidylinositol 3,4,5 trisphosphatePKBmTORHMEAMPTSCPI3KBECTSAkt1LKB1SEGA4E-BP1GTPase Activating ProteinmTOR complex 1Ribosomal s6 kinasev-akt murine thymoma viral oncogene homolog 1Adenosine TriphosphateATPadenosine monophosphateSubependymal giant cell astrocytomaEverolimusLhermitte-Duclos diseaseRapamycinRas homolog enriched in brainserine/threonine kinase 11Klippel-Trenaunay syndromePeutz-Jeghers syndromeCowden syndromeSirolimusGAPBenign epilepsy with centrotemporal spikesAutosomal dominant nocturnal frontal lobe epilepsyphosphatase and tensin homologPhosphatidylinositol 4,5 bisphosphatephosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alphaLAMLymphangioleiomyomatosisClovesprotein kinase BAMP-dependent protein kinasePtenTuberous sclerosis complex
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Authors
Anurag Saxena, Julian R. Sampson,