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References from Genetic and Environmental Contributions to Autism Spectrum Disorder Through Mechanistic Target of Rapamycin. Local targets link to admitted publications; unresolved targets remain external evidence.
Unresolved reference
2013 · External reference
Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis
10.1016/s2215-0366(15)00376-4 · 2015 · External reference
Genetic causes and modifiers of autism spectrum disorder
10.3389/fncel.2019.00385 · 2019 · External reference
Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism
10.1001/jama.2013.2270 · 2013 · External reference
Prevalence of autism spectrum disorder in preterm infants: A meta-analysis
10.1542/peds.2018-0134 · 2018 · External reference
mTOR in brain physiology and pathologies
10.1152/physrev.00038.2014 · 2015 · External reference
Rictor, a novel binding partner of mTOR, defines a rapamycin-insensitive and raptor-independent pathway that regulates the cytoskeleton
10.1016/j.cub.2004.06.054 · 2004 · External reference
Molecular basis of the rapamycin insensitivity of target of rapamycin complex 2
10.1016/j.molcel.2015.04.031 · 2015 · External reference
Possible mechanisms of disease development in tuberous sclerosis
10.1016/s1470-2045(07)70411-4 · 2008 · External reference
Regulation of mTORC1 by PI3K signaling
10.1016/j.tcb.2015.06.002 · 2015 · External reference
The Ras-ERK and PI3K-mTOR pathways: Cross-talk and compensation
10.1016/j.tibs.2011.03.006 · 2011 · External reference
Insight on transcriptional regulation of the energy sensing AMPK and biosynthetic mTOR pathway genes
10.3389/fcell.2020.00671 · 2020 · External reference
Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins
10.1038/ncb999 · 2003 · External reference
Regulation and function of ribosomal protein S6 kinase (S6K) within mTOR signalling networks
10.1042/bj20110892 · 2012 · External reference
4E-BP 1, a multifactor regulated multifunctional protein
10.1080/15384101.2016.1151581 · 2016 · External reference
The emerging roles of mTORC1 in macromanaging autophagy
10.3390/cancers11101422 · 2019 · External reference
FK506 binding proteins and inflammation related signalling pathways; Basic biology, current status and future prospects for pharmacological intervention
10.1016/j.pharmthera.2020.107623 · 2020 · External reference
Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex
10.1093/neuonc/nov152 · 2015 · External reference
Targeting mTOR for cancer therapy
10.1186/s13045-019-0754-1 · 2019 · External reference
Sclérose tubéreuse des circonvolutions cérébrales: idiotie et épilepsie hémiplégique
1880 · External reference
A case of congenital adenoma sebaceum
1890 · External reference
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
10.1126/science.277.5327.805 · 1997 · External reference
Identification and characterization of the tuberous sclerosis gene on chromosome 16
10.1016/0092-8674(93)90618-z · 1993 · External reference
Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
10.1016/j.pediatrneurol.2013.08.001 · 2013 · External reference
Prevalence of tuberous sclerosis estimated by capture-recapture analysis
10.1016/s0140-6736(05)78872-3 · 1998 · External reference
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: Systematic review
10.1185/03007995.2011.586687 · 2011 · External reference
Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 International tuberous sclerosis Complex Consensus Conference
10.1016/j.pediatrneurol.2013.08.002 · 2013 · External reference
Neurological and neuropsychiatric aspects of tuberous sclerosis complex
10.1016/s1474-4422(15)00069-1 · 2015 · External reference
The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): A postal survey of UK families
10.1007/s00787-006-0570-3 · 2007 · External reference
What is the male-to-female ratio in autism spectrum disorder? A systematic review and meta-analysis
10.1016/j.jaac.2017.03.013 · 2017 · External reference
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
10.1093/hmg/6.12.2155 · 1997 · External reference
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
10.1086/316951 · 2001 · External reference
Genotype and psychological phenotype in tuberous sclerosis
10.1136/jmg.2003.012757 · 2004 · External reference
Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
10.1212/wnl.0b013e3182104347 · 2011 · External reference
A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer
10.1038/ng0195-70 · 1995 · External reference
Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice
1999 · External reference
A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice
10.1073/pnas.151033798 · 2001 · External reference
Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures
10.1002/ana.21317 · 2007 · External reference
Tsc2+/- mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background
10.1172/jci7319 · 1999 · External reference
Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
10.1038/nm1788 · 2008 · External reference
Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex
10.1038/ncomms2295 · 2012 · External reference
Epilepsy and Tsc2 haploinsufficiency lead to autistic-like social deficit behaviors in rats
10.1007/s10519-010-9399-0 · 2011 · External reference
mTOR inhibitor reverses autistic-like social deficit behaviours in adult rats with both Tsc2 haploinsufficiency and developmental status epilepticus
10.1007/s00406-016-0703-8 · 2017 · External reference
Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
10.1038/nature11310 · 2012 · External reference
Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex
10.1016/j.nbd.2012.10.014 · 2013 · External reference
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
10.1002/ana.21331 · 2008 · External reference
Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex
10.1093/hmg/ddq491 · 2011 · External reference
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
10.1093/hmg/8.8.1461 · 1999 · External reference
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway
10.1086/377109 · 2003 · External reference
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults
10.1086/379382 · 2003 · External reference
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
10.1136/jmg.2004.024646 · 2005 · External reference
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
10.1002/aur.132 · 2010 · External reference
PTEN hamartoma tumor syndromes
10.1038/ejhg.2008.162 · 2008 · External reference
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
10.1097/gim.0b013e31818fd762 · 2009 · External reference
PTEN signaling in autism spectrum disorders
10.1016/j.conb.2012.05.004 · 2012 · External reference
Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN
10.1038/s41398-019-0588-1 · 2019 · External reference
PTEN tumor suppressor network in PI3K-Akt pathway control
10.1177/1947601911407325 · 2010 · External reference
Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests
10.1093/hmg/ddu057 · 2014 · External reference
Social behavioral deficits coincide with the onset of seizure susceptibility in mice lacking serotonin receptor 2c
10.1371/journal.pone.0136494 · 2015 · External reference
Hyperconnectivity of prefrontal cortex to amygdala projections in a mouse model of macrocephaly/autism syndrome
10.1038/ncomms13421 · 2016 · External reference
Pten regulates neuronal arborization and social interaction in mice
10.1016/j.neuron.2006.03.023 · 2006 · External reference
Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice
10.1523/jneurosci.5685-08.2009 · 2009 · External reference
Therapeutic inhibition of mTORC2 rescues the behavioral and neurophysiological abnormalities associated with Pten-deficiency
10.1038/s41591-019-0608-y · 2019 · External reference
Fragile X syndrome: A review of associated medical problems
10.1542/peds.2013-4301 · 2014 · External reference
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
10.1016/0092-8674(91)90397-h · 1991 · External reference
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
10.1016/0092-8674(91)90283-5 · 1991 · External reference
A distinct DNA-methylation boundary in the 5′-upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome
10.1016/j.ajhg.2009.09.018 · 2009 · External reference
The FMR1 gene and fragile X-associated tremor/ataxia syndrome
10.1002/ajmg.b.30910 · 2009 · External reference
Epidemiology of fragile X syndrome: A systematic review and meta-analysis
10.1002/ajmg.a.36511 · 2014 · External reference
Dysregulation and restoration of translational homeostasis in fragile X syndrome
10.1038/nrn4001 · 2015 · External reference
Fragile X syndrome
10.1038/nrdp.2017.65 · 2017 · External reference
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
10.1016/j.cell.2008.07.031 · 2008 · External reference
Metformin for treatment of fragile X syndrome and other neurological disorders
10.1146/annurev-med-081117-041238 · 2019 · External reference
Genetic removal of P70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice
10.1016/j.neuron.2012.07.022 · 2012 · External reference
Fmr1 and Nlgn3 knockout rats: Novel tools for investigating autism spectrum disorders
10.1037/a0035988 · 2014 · External reference
Correction of fragile X syndrome in mice
10.1016/j.neuron.2007.12.001 · 2007 · External reference
Group I metabotropic glutamate receptor antagonists alter select behaviors in a mouse model for fragile X syndrome
10.1007/s00213-011-2375-4 · 2012 · External reference
Activation of the phosphoinositide 3-kinase-Akt-mammalian target of rapamycin signaling pathway is required for metabotropic glutamate receptor-dependent long-term depression
10.1523/jneurosci.0995-04.2004 · 2004 · External reference
Identification of FMRP target mRNAs in the developmental brain: FMRP might coordinate Ras/MAPK, Wnt/β-catenin, and mTOR signaling during corticogenesis
10.1186/s13041-020-00706-1 · 2020 · External reference
Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome
10.1523/jneurosci.0402-10.2010 · 2010 · External reference
Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome
10.1523/jneurosci.3888-10.2010 · 2010 · External reference
Dysregulation of mTOR signaling in fragile X syndrome
10.1523/jneurosci.3696-09.2010 · 2010 · External reference
Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome
10.1038/nn.3033 · 2012 · External reference
Negative effects of chronic rapamycin treatment on behavior in a mouse model of fragile X syndrome
10.3389/fnmol.2017.00452 · 2017 · External reference
RASopathies
10.1016/j.clindermatol.2020.03.010 · 2020 · External reference
Emerging therapeutic targets for neurofibromatosis type 1
10.1080/14728222.2018.1465931 · 2018 · External reference
Autism and other psychiatric comorbidity in neurofibromatosis type 1: Evidence from a population-based study
10.1111/dmcn.12043 · 2013 · External reference
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1
10.1111/dmcn.12038 · 2013 · External reference
The Gap-related domain of the neurofibromatosis type 1 gene product interacts with ras p21
10.1016/0092-8674(90)90150-d · 1990 · External reference
A mouse model for the learning and memory deficits associated with neurofibromatosis type I
10.1038/ng0397-281 · 1997 · External reference
Social learning and amygdala disruptions in Nf1 mice are rescued by blocking p21-activated kinase
10.1038/nn.3822 · 2014 · External reference
Brain and behaviour phenotyping of a mouse model of neurofibromatosis type-1: An MRI/DTI study on social cognition
10.1111/gbb.12305 · 2016 · External reference
Characterization of early communicative behavior in mouse models of neurofibromatosis type 1
10.1002/aur.1853 · 2018 · External reference
Valproic acid after five decades of use in epilepsy: Time to reconsider the indications of a time-honoured drug
10.1016/s1474-4422(15)00314-2 · 2016 · External reference
Valproate (valproic acid or sodium valproate or a combination of the two) for the prophylaxis of episodic migraine in adults
2013 · External reference
Bipolar disorders
10.1016/s0140-6736(20)31544-0 · 2020 · External reference
IQ at 6 years after in utero exposure to antiepileptic drugs: A controlled cohort study
10.1212/wnl.0000000000001182 · 2015 · External reference
Valproic acid monotherapy in pregnancy and major congenital malformations
10.1056/nejmoa0907328 · 2010 · External reference
Valproate in the treatment of epilepsy in girls and women of childbearing potential
10.1111/epi.13021 · 2015 · External reference
The valproic acid-induced rodent model of autism
10.1016/j.expneurol.2017.04.017 · 2018 · External reference
Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen
10.1074/jbc.m101287200 · 2001 · External reference
Autism-like behaviours with transient histone hyperacetylation in mice treated prenatally with valproic acid
10.1017/s1461145711001714 · 2013 · External reference
Valproic acid activates the PI3K/Akt/mTOR pathway in muscle and ameliorates pathology in a mouse model of Duchenne muscular dystrophy
10.2353/ajpath.2009.080537 · 2009 · External reference
Valproic acid exposure sequentially activates Wnt and mTOR pathways in rats
10.1016/j.mcn.2016.06.004 · 2016 · External reference
Effects of rapamycin on social interaction deficits and gene expression in mice exposed to valproic acid in utero
10.1186/s13041-018-0423-2 · 2019 · External reference
mTOR suppresses macroautophagy during striatal postnatal development and is hyperactive in mouse models of autism spectrum disorders
10.3389/fncel.2020.00070 · 2020 · External reference
Postadolescent changes in regional cerebral protein synthesis: An in vivo study in the FMR1 null mouse
10.1523/jneurosci.0093-05.2005 · 2005 · External reference
Mutations causing syndromic autism define an axis of synaptic pathophysiology
10.1038/nature10658 · 2011 · External reference
Decreased rates of cerebral protein synthesis measured in vivo in a mouse model of tuberous sclerosis complex: Unexpected consequences of reduced tuberin
10.1111/jnc.14311 · 2018 · External reference
Autism-related deficits via dysregulated eIF4E-dependent translational control
10.1038/nature11628 · 2013 · External reference
Inhibition of group I metabotropic glutamate receptors reverses autistic-like phenotypes caused by deficiency of the translation repressor eIF4E binding protein 2
10.1523/jneurosci.4615-14.2015 · 2015 · External reference
Exaggerated translation causes synaptic and behavioural aberrations associated with autism
10.1038/nature11782 · 2013 · External reference
Reducing eIF4E-eIF4G interactions restores the balance between protein synthesis and actin dynamics in fragile X syndrome model mice
10.1126/scisignal.aan0665 · 2017 · External reference
Autophagy fights disease through cellular self-digestion
10.1038/nature06639 · 2008 · External reference
Nutrient-dependent mTORC1 association with the ULK1-Atg13-FIP200 complex required for autophagy
10.1091/mbc.e08-12-1248 · 2009 · External reference
Autophagy pathway: Cellular and molecular mechanisms
10.1080/15548627.2017.1378838 · 2018 · External reference
Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits
10.1016/j.neuron.2014.07.040 · 2014 · External reference
Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1
10.1093/hmg/ddu101 · 2014 · External reference
mTOR: A pharmacologic target for autophagy regulation
10.1172/jci73939 · 2015 · External reference
Reduced juvenile long-term depression in tuberous sclerosis complex is mitigated in adults by compensatory recruitment of mGluR5 and Erk signaling
10.1371/journal.pbio.1001627 · 2013 · External reference
mGluR5 modulation of behavioral and epileptic phenotypes in a mouse model of tuberous sclerosis complex
10.1038/npp.2017.295 · 2018 · External reference
mGluR-dependent long-term depression is associated with increased phosphorylation of S6 and synthesis of elongation factor 1A but remains expressed in S6K-deficient mice
10.1128/mcb.00201-08 · 2008 · External reference
Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures
10.1124/mol.109.056127 · 2009 · External reference
Drug development for neurodevelopmental disorders: Lessons learned from fragile X syndrome
10.1038/nrd.2017.221 · 2018 · External reference
Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials
10.1126/scitranslmed.aab4109 · 2016 · External reference
Arbaclofen in fragile X syndrome: Results of phase 3 trials
10.1186/s11689-016-9181-6 · 2017 · External reference
Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in fragile X syndrome
10.1371/journal.pone.0209984 · 2019 · External reference
Simvastatin suppresses coronary artery endothelial tube formation by disrupting Ras/Raf/ERK signaling
10.1016/j.atherosclerosis.2004.04.017 · 2004 · External reference
The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1
10.1016/j.cub.2005.09.043 · 2005 · External reference
Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1
10.1186/1471-2377-13-131 · 2013 · External reference
A randomized placebo-controlled lovastatin trial for neurobehavioral function in neurofibromatosis I
10.1002/acn3.288 · 2016 · External reference
Visual spatial learning outcomes for clinical trials in neurofibromatosis type 1
10.1002/acn3.50976 · 2020 · External reference
Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: A randomized controlled trial
10.1001/jama.300.3.287 · 2008 · External reference
Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): A randomised, placebo-controlled trial
10.1016/s1474-4422(13)70227-8 · 2013 · External reference
Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)
10.1186/s13229-018-0190-z · 2018 · External reference
Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation
10.1186/s13041-016-0222-6 · 2016 · External reference
Beneficial effects of everolimus on autism and attention-deficit/hyperactivity disorder symptoms in a group of patients with tuberous sclerosis complex
10.1089/cap.2016.0100 · 2017 · External reference
Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: A phase 2 trial
10.1158/1078-0432.ccr-11-0445 · 2011 · External reference
Everolimus treatment of refractory epilepsy in tuberous sclerosis complex
10.1002/ana.23960 · 2013 · External reference
Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan
10.1016/j.braindev.2018.07.003 · 2019 · External reference
Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis
10.1056/nejmoa1001671 · 2010 · External reference
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex
10.1212/wnl.0000000000007749 · 2019 · External reference
A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations
10.1016/j.conctc.2021.100733 · 2021 · External reference
Haploinsufficiency for Pten and serotonin transporter cooperatively influences brain size and social behavior
10.1073/pnas.0804428106 · 2009 · External reference
Autistic-like traits and cerebellar dysfunction in Purkinje cell PTEN knock-out mice
10.1038/npp.2015.339 · 2016 · External reference
Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: Interplay between Pten and p53
2021 · External reference
Deletion of PTEN produces autism-like behavioral deficits and alterations in synaptic proteins
10.3389/fnmol.2014.00027 · 2014 · External reference
Pten deletion in adult hippocampal neural stem/progenitor cells causes cellular abnormalities and alters neurogenesis
10.1523/jneurosci.5462-11.2012 · 2012 · External reference
Autism-relevant behaviors are minimally impacted by conditional deletion of Pten in oxytocinergic neurons
10.1002/aur.1641 · 2016 · External reference
The parvalbumin/somatostatin ratio is increased in Pten mutant mice and by human PTEN ASD alleles
10.1016/j.celrep.2015.04.019 · 2015 · External reference
PTEN activity defines an axis for plasticity at cortico-amygdala synapses and influences social behavior
2020 · External reference
Hyperactivity, perseveration and increased responding during attentional rule acquisition in the Fragile X mouse model
10.3389/fnbeh.2013.00172 · 2013 · External reference
2-Methyl-6-(phenylethynyl) pyridine (MPEP) reverses maze learning and PSD-95 deficits in Fmr1 knock-out mice
10.3389/fncel.2014.00070 · 2014 · External reference
Glyoxalase 1 inhibitor alleviates autism-like phenotype in a prenatal valproic acid-induced mouse model
10.1021/acschemneuro.0c00482 · 2020 · External reference
Combined the GABA-A and GABA-B receptor agonists attenuates autistic behaviors in a prenatal valproic acid-induced mouse model of autism
10.1016/j.bbr.2020.113094 · 2021 · External reference
