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

Diverse Non-genetic, Allele-Specific Expression Effects Shape Genetic Architecture at the Cellular Level in the Mammalian Brain

(2017) Wei-Chao Huang et al.   NEURON

Rodent models in neuroscience research: is it a rat race?

(2016) Bart Ellenbroek et al.   Disease Models & Mechanisms

The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions

(2016) Paolo Curatolo et al.   DRUGS

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

Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice

(2016) Barbara K. Robens et al.   NEUROBIOLOGY OF DISEASE

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

Mutations in the mammalian target of rapamycin pathway regulatorsNPRL2andNPRL3cause focal epilepsy

(2015) Michael G. Ricos et al.   ANNALS OF NEUROLOGY

Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2

(2015) Paul A. Dutchak et al.   Cell Reports

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

TUSC4 Functions as a Tumor Suppressor by Regulating BRCA1 Stability

(2014) Y. Peng et al.   CANCER RESEARCH

Spatial Control of the TSC Complex Integrates Insulin and Nutrient Regulation of mTORC1 at the Lysosome

(2014) Suchithra Menon et al.   CELL

Regulation of TORC1 in Response to Amino Acid Starvation via Lysosomal Recruitment of TSC2

(2014) Constantinos Demetriades et al.   CELL

Developmental brain abnormalities in tuberous sclerosis complex: A comparative tissue analysis of cortical tubers and perituberal cortex

(2014) Véronique Ruppe et al.   EPILEPSIA

Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model

(2014) N. Lozovaya et al.   Nature Communications

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

One-Step Generation of Mice Carrying Reporter and Conditional Alleles by CRISPR/Cas-Mediated Genome Engineering

(2013) Hui Yang et al.   CELL

SEACing the GAP that nEGOCiates TORC1 activation

(2013) Nicolas Panchaud et al.   CELL CYCLE

Highly efficient gene knockout in mice and zebrafish with RNA-guided endonucleases

(2013) Y. H. Sung et al.   GENOME RESEARCH

Analysis of off-target effects of CRISPR/Cas-derived RNA-guided endonucleases and nickases

(2013) S. W. Cho et al.   GENOME RESEARCH

Tsc1 deficiency-mediated mTOR hyperactivation in vascular endothelial cells causes angiogenesis defects and embryonic lethality

(2013) Aiping Ma et al.   HUMAN MOLECULAR GENETICS

Knockout mice created by TALEN-mediated gene targeting

(2013) Young Hoon Sung et al.   NATURE BIOTECHNOLOGY

Heritable gene targeting in the mouse and rat using a CRISPR-Cas system

(2013) Dali Li et al.   NATURE BIOTECHNOLOGY

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

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

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Two lines of transgenic mice expressing cre-recombinase exhibit increased seizure susceptibility

(2012) Tae Hwan Kim et al.   EPILEPSY RESEARCH

Nprl3 is required for normal development of the cardiovascular system

(2012) Monika S. Kowalczyk et al.   MAMMALIAN GENOME

Amino acids and mTORC1: from lysosomes to disease

(2012) Alejo Efeyan et al.   TRENDS IN MOLECULAR MEDICINE

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

(2011) J. Kazenwadel et al.   BLOOD

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice

(2011) David M. Feliciano et al.   JOURNAL OF CLINICAL INVESTIGATION

Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex

(2011) J. Goto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

mTOR couples cellular nutrient sensing to organismal metabolic homeostasis

(2011) Jessica J. Howell et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Biallelic TSC gene inactivation in tuberous sclerosis complex

(2010) P. B. Crino et al.   NEUROLOGY

Universal sample preparation method for proteome analysis

(2009) Jacek R Wiśniewski et al.   NATURE METHODS

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

(2008) Jingxiang Huang et al.   BIOCHEMICAL JOURNAL