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

Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice

(2017) Victor Sabanov et al.   NEUROPHARMACOLOGY

The Temporal Contribution of the Gbx2 Lineage to Cerebellar Neurons

(2017) Nellwyn Hagan et al.   Frontiers in Neuroanatomy

mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

(2016) Veronica Costa et al.   Cell Reports

Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex

(2016) Darius Ebrahimi-Fakhari et al.   Cell Reports

Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model

(2016) Nils Grabole et al.   Genome Medicine

Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex

(2015) Maria Sundberg et al.   JOURNAL OF CHILD NEUROLOGY

Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells

(2015) Keiko Muguruma et al.   Cell Reports

Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1

(2014) Alessia Di Nardo et al.   HUMAN MOLECULAR GENETICS

Balanced mTORC1 Activity in Oligodendrocytes Is Required for Accurate CNS Myelination

(2014) F. Lebrun-Julien et al.   JOURNAL OF NEUROSCIENCE

A comparison of non-integrating reprogramming methods

(2014) Thorsten M Schlaeger et al.   NATURE BIOTECHNOLOGY

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

(2014) Ghayda M Mirzaa et al.   NATURE GENETICS

The Neurology of mTOR

(2014) Jonathan O. Lipton et al.   NEURON

Selective Activation of mTORC1 Signaling Recapitulates Microcephaly, Tuberous Sclerosis, and Neurodegenerative Diseases

(2014) Hidetoshi Kassai et al.   Cell Reports

Efficient Generation of Myelinating Oligodendrocytes from Primary Progressive Multiple Sclerosis Patients by Induced Pluripotent Stem Cells

(2014) Panagiotis Douvaras et al.   Stem Cell Reports

Human iPSC-Derived Oligodendrocyte Progenitor Cells Can Myelinate and Rescue a Mouse Model of Congenital Hypomyelination

(2013) Su Wang et al.   Cell Stem Cell

Generation of an ICF Syndrome Model by Efficient Genome Editing of Human Induced Pluripotent Stem Cells Using the CRISPR System

(2013) Takuro Horii et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Comparative analysis ofTsc1andTsc2single and double radial glial cell mutants

(2013) Ulrike Mietzsch et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Inactivation of mTORC1 in the Developing Brain Causes Microcephaly and Affects Gliogenesis

(2013) D. Cloetta et al.   JOURNAL OF NEUROSCIENCE

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

(2013) Elizabeth A. Normand et al.   NEURON

A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex

(2013) Neil I. Weisenfeld et al.   PEDIATRIC NEUROLOGY

Efficient genome engineering in human pluripotent stem cells using Cas9 from Neisseria meningitidis

(2013) Z. Hou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Improved Cell Therapy Protocols for Parkinson's Disease Based on Differentiation Efficiency and Safety of hESC-, hiPSC-, and Non-Human Primate iPSC-Derived Dopaminergic Neurons

(2013) Maria Sundberg et al.   STEM CELLS

Rapid and Efficient Directed Differentiation of Human Pluripotent Stem Cells Into Retinal Pigmented Epithelium

(2013) David E. Buchholz et al.   Stem Cells Translational Medicine

High Yields of Oligodendrocyte Lineage Cells from Human Embryonic Stem Cells at Physiological Oxygen Tensions for Evaluation of Translational Biology

(2013) Sybil R.L. Stacpoole et al.   Stem Cell Reports

TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1

(2012) Christian C. Dibble et al.   MOLECULAR CELL

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

(2012) Peter T. Tsai et al.   NATURE

FMRP targets distinct mRNA sequence elements to regulate protein expression

(2012) Manuel Ascano et al.   NATURE

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

Loss of White Matter Microstructural Integrity Is Associated with Adverse Neurological Outcome in Tuberous Sclerosis Complex

(2011) Jurriaan M. Peters et al.   ACADEMIC RADIOLOGY

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Sustained Activation of mTOR Pathway in Embryonic Neural Stem Cells Leads to Development of Tuberous Sclerosis Complex-Associated Lesions

(2011) Laura Magri et al.   Cell Stem Cell

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand et al.   NATURE

A novel TALE nuclease scaffold enables high genome editing activity in combination with low toxicity

(2011) Claudio Mussolino et al.   NUCLEIC ACIDS RESEARCH

Wnt/β-catenin Signalling Is Active in a Highly Dynamic Pattern during Development of the Mouse Cerebellum

(2011) Hayden J. Selvadurai et al.   PLoS One

A xeno-free culturing protocol for pluripotent stem cell-derived oligodendrocyte precursor cell production

(2011) Maria Sundberg et al.   Regenerative Medicine

Cerebellar abnormality in children and young adults with tuberous sclerosis complex: MR and diffusion weighted imaging findings

(2010) G. Ertan et al.   JOURNAL OF NEURORADIOLOGY

Biallelic TSC gene inactivation in tuberous sclerosis complex

(2010) P. B. Crino et al.   NEUROLOGY

Early developmental alterations in GABAergic protein expression in fragile X knockout mice

(2010) Daniel C. Adusei et al.   NEUROPHARMACOLOGY

Fgf8b-containing spliceforms, but not Fgf8a, are essential for Fgf8 function during development of the midbrain and cerebellum

(2009) Qiuxia Guo et al.   DEVELOPMENTAL BIOLOGY

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

(2009) S. W. Way et al.   HUMAN MOLECULAR GENETICS

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

Magnetic resonance imaging and diffusion-weighted imaging of normal-appearing white matter in children and young adults with tuberous sclerosis complex

(2009) Sahayini Arulrajah et al.   NEURORADIOLOGY

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

(2008) Jingxiang Huang et al.   BIOCHEMICAL JOURNAL

Cerebellar Purkinje Cells are Reduced in a Subpopulation of Autistic Brains: A Stereological Experiment Using Calbindin-D28k

(2008) Elizabeth R. Whitney et al.   CEREBELLUM

Downregulation of Tonic GABAergic Inhibition in a Mouse Model of Fragile X Syndrome

(2008) Giulia Curia et al.   CEREBRAL CORTEX

S6K1 Phosphorylates and Regulates Fragile X Mental Retardation Protein (FMRP) with the Neuronal Protein Synthesis-dependent Mammalian Target of Rapamycin (mTOR) Signaling Cascade

(2008) Usha Narayanan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY