Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation

TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling

(2020) Pauline Martin et al.   Molecular Autism

Hyperexcitability of the local cortical circuit in mouse models of tuberous sclerosis complex

(2019) Jian-Ping Zhao et al.   Molecular Brain

Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons

(2019) Kellen D. Winden et al.   JOURNAL OF NEUROSCIENCE

L-type voltage-gated calcium channel regulation of in vitro human cortical neuronal networks

(2019) William Plumbly et al.   Scientific Reports

UNC-51-like Kinase 1: From an Autophagic Initiator to Multifunctional Drug Target

(2018) Lan Zhang et al.   JOURNAL OF MEDICINAL CHEMISTRY

Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin

(2018) Maria Sundberg et al.   MOLECULAR PSYCHIATRY

Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models

(2018) Aishwarya G. Nadadhur et al.   Stem Cell Reports

Discovery of a small molecule targeting ULK1-modulated cell death of triple negative breast cancer in vitro and in vivo

(2017) Lan Zhang et al.   Chemical Science

Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders

(2017) Darcy A. Krueger et al.   Annals of Clinical and Translational Neurology

Multi-level characterization of balanced inhibitory-excitatory cortical neuron network derived from human pluripotent stem cells

(2017) Aishwarya G. Nadadhur et al.   PLoS One

Synaptic AMPA receptor composition in development, plasticity and disease

(2016) Jeremy M. Henley et al.   NATURE REVIEWS NEUROSCIENCE

Three Distinct Glutamate Decarboxylase Genes in Vertebrates

(2016) Brian P. Grone et al.   Scientific Reports

Physiological maturation and drug responses of human induced pluripotent stem cell-derived cortical neuronal networks in long-term culture

(2016) A. Odawara et al.   Scientific Reports

The GABAAreceptor is an FMRP target with therapeutic potential in fragile X syndrome

(2015) Sien Braat et al.   CELL CYCLE

Temporal and Mosaic Tsc1 Deletion in the Developing Thalamus Disrupts Thalamocortical Circuitry, Neural Function, and Behavior

(2013) Elizabeth A. Normand et al.   NEURON

Excitatory/Inhibitory Synaptic Imbalance Leads to Hippocampal Hyperexcitability in Mouse Models of Tuberous Sclerosis

(2013) Helen S. Bateup et al.   NEURON

Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex

(2012) R. Michelle Reith et al.   NEUROBIOLOGY OF DISEASE

ULK1 inhibits mTORC1 signaling, promotes multisite Raptor phosphorylation and hinders substrate binding

(2011) Elaine A. Dunlop et al.   Autophagy

Sirolimus Therapy for Angiomyolipoma in Tuberous Sclerosis and Sporadic Lymphangioleiomyomatosis: A Phase 2 Trial

(2011) D. M. Davies et al.   CLINICAL CANCER RESEARCH

Relieving Autophagy and 4EBP1 from Rapamycin Resistance

(2011) B. Nyfeler et al.   MOLECULAR AND CELLULAR BIOLOGY

Lentiviral Vector Design and Imaging Approaches to Visualize the Early Stages of Cellular Reprogramming

(2011) Eva Warlich et al.   MOLECULAR THERAPY

AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1

(2011) Joungmok Kim et al.   NATURE CELL BIOLOGY

Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin

(2011) Robert P. Carson et al.   NEUROBIOLOGY OF DISEASE

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

mTOR: from growth signal integration to cancer, diabetes and ageing

(2010) Roberto Zoncu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Phosphorylation of ULK1 (hATG1) by AMP-Activated Protein Kinase Connects Energy Sensing to Mitophagy

(2010) D. F. Egan et al.   SCIENCE

Signaling Events Downstream of Mammalian Target of Rapamycin Complex 2 Are Attenuated in Cells and Tumors Deficient for the Tuberous Sclerosis Complex Tumor Suppressors

(2009) J. Huang et al.   CANCER RESEARCH

The Role of the Mammalian Target Of Rapamycin (mTOR) in Renal Disease

(2009) W. Lieberthal et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Oligomeric amyloid   associates with postsynaptic densities and correlates with excitatory synapse loss near senile plaques

(2009) R. M. Koffie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

(2008) Ling-Hui Zeng et al.   ANNALS OF NEUROLOGY

The TSC1–TSC2 complex: a molecular switchboard controlling cell growth

(2008) Jingxiang Huang et al.   BIOCHEMICAL JOURNAL

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