Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice

Non-canonical mTOR-Independent Role of DEPDC5 in Regulating GABAergic Network Development

(2018) Amrutha Swaminathan et al.   CURRENT BIOLOGY

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

(2018) Théo Ribierre et al.   JOURNAL OF CLINICAL INVESTIGATION

Architecture of the human GATOR1 and GATOR1–Rag GTPases complexes

(2018) Kuang Shen et al.   NATURE

KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing

(2018) Jie Chen et al.   NATURE

A mouse model of DEPDC5 -related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility

(2018) Christopher J. Yuskaitis et al.   NEUROBIOLOGY OF DISEASE

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons

(2018) Philip H. Iffland et al.   NEUROBIOLOGY OF DISEASE

Negative Effects of Chronic Rapamycin Treatment on Behavior in a Mouse Model of Fragile X Syndrome

(2018) Rachel M. Saré et al.   Frontiers in Molecular Neuroscience

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish

(2018) Hortense de Calbiac et al.   Annals of Clinical and Translational Neurology

Somatic Depdc5 deletion recapitulates electroclinical features of human focal cortical dysplasia type IIA

(2018) Shuntong Hu et al.   ANNALS OF NEUROLOGY

The landscape of epilepsy-related GATOR1 variants

(2018) Sara Baldassari et al.   GENETICS IN MEDICINE

Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors

(2018) Peter T. Tsai et al.   Cell Reports

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

(2017) Piero Perucca et al.   EPILEPSY RESEARCH

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1

(2017) Rachel L. Wolfson et al.   NATURE

Molecular neurobiology of mTOR

(2017) Katarzyna Switon et al.   NEUROSCIENCE

Rapamycin Attenuates Acute Seizure-induced Astrocyte Injury in Mice in Vivo

(2017) Dongjun Guo et al.   Scientific Reports

Prenatal Mechanistic Target of Rapamycin Complex 1 (m TORC1) Inhibition by Rapamycin Treatment of Pregnant Mice Causes Intrauterine Growth Restriction and Alters Postnatal Cardiac Growth, Morphology, and Function

(2017) Maria Hennig et al.   Journal of the American Heart Association

Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism

(2017) Sameer C. Dhamne et al.   Molecular Autism

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling

(2017) James Hughes et al.   Scientific Reports

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

(2016) Richard D. Bagnall et al.   ANNALS OF NEUROLOGY

Does rapid and physiological astrocyte-neuron signalling amplify epileptic activity?

(2016) Christian Henneberger   JOURNAL OF PHYSIOLOGY-LONDON

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

(2016) Jacqueline A French et al.   LANCET

The mTOR signalling cascade: paving new roads to cure neurological disease

(2016) Peter B. Crino   Nature Reviews Neurology

Depdc5 knockout rat: A novel model of mTORopathy

(2016) Elise Marsan et al.   NEUROBIOLOGY OF DISEASE

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

(2015) Alissa M. D'Gama et al.   ANNALS OF NEUROLOGY

Vascular amyloidosis impairs the gliovascular unit in a mouse model of Alzheimer’s disease

(2015) Ian F. Kimbrough et al.   BRAIN

Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

(2014) Ingrid E. Scheffer et al.   ANNALS OF NEUROLOGY

DEPDC5mutations in genetic focal epilepsies of childhood

(2014) Dennis Lal et al.   ANNALS OF NEUROLOGY

The Neurology of mTOR

(2014) Jonathan O. Lipton et al.   NEURON

mTOR signaling and its roles in normal and abnormal brain development

(2014) Nobuyuki Takei et al.   Frontiers in Molecular Neuroscience

The Regulation of Cell Size

(2013) Alison C. Lloyd   CELL

Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86

(2013) Mehmet Canpolat et al.   CHILDS NERVOUS SYSTEM

Traumatic Injury to the Immature Frontal Lobe: A New Murine Model of Long-Term Motor Impairment in the Absence of Psychosocial or Cognitive Deficits

(2013) Chien-Yi Chen et al.   DEVELOPMENTAL NEUROSCIENCE

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

(2013) Saeko Ishida et al.   NATURE GENETICS

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

(2013) Leanne M Dibbens et al.   NATURE GENETICS

mTORC1 Phosphorylation Sites Encode Their Sensitivity to Starvation and Rapamycin

(2013) S. A. Kang et al.   SCIENCE

A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC1

(2013) L. Bar-Peled et al.   SCIENCE

Prenatal Rapamycin Results in Early and Late Behavioral Abnormalities in Wildtype C57Bl/6 Mice

(2012) Peter T. Tsai et al.   BEHAVIOR GENETICS

Tuberous sclerosis and epilepsy: Role of astrocytes

(2012) Michael Wong et al.   GLIA

The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex

(2012) Sharon W. Way et al.   HUMAN MOLECULAR GENETICS

Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features

(2012) Elizabeth Yuan et al.   HUMAN MOLECULAR GENETICS

Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex

(2012) Robert P. Carson et al.   HUMAN MOLECULAR GENETICS

Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function

(2008) L. Meikle et al.   JOURNAL OF NEUROSCIENCE