Synaptic Alterations in a Transgenic Model of Tuberous Sclerosis Complex: Relevance to Autism Spectrum Disorders

The Synaptic Dysregulation in Adolescent Rats Exposed to Maternal Immune Activation

(2021) Magdalena Cieślik et al.   Frontiers in Molecular Neuroscience

Neuron–Glia Interactions in Tuberous Sclerosis Complex Affect the Synaptic Balance in 2D and Organoid Cultures

(2021) Stephanie Dooves et al.   Cells

Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder

(2021) Yuyoung Joo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells

(2021) Paola Lenzi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies

(2021) Victoria‐Elisabeth Gruber et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Cerebral organoid and mouse models reveal a RAB39b–PI3K–mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes

(2020) Wei Zhang et al.   GENES & DEVELOPMENT

Tau Reduction Prevents Key Features of Autism in Mouse Models

(2020) Chao Tai et al.   NEURON

Prenatal Exposure to Valproic Acid Affects Microglia and Synaptic Ultrastructure in a Brain-Region-Specific Manner in Young-Adult Male Rats: Relevance to Autism Spectrum Disorders

(2020) Magdalena Gąssowska-Dobrowolska et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mitochondrial protein biogenesis in the synapse is supported by local translation

(2020) Bozena Kuzniewska et al.   EMBO REPORTS

Maternal Immune Activation Induces Neuroinflammation and Cortical Synaptic Deficits in the Adolescent Rat Offspring

(2020) Magdalena Cieślik et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

An Updated Review of Tuberous Sclerosis Complex-Associated Autism Spectrum Disorder

(2020) Debopam Samanta   PEDIATRIC NEUROLOGY

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)

(2020) David M. Feliciano   Frontiers in Neuroanatomy

Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers

(2020) Angelika Mühlebner et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Tuberous Sclerosis Complex as Disease Model for Investigating mTOR-Related Gliopathy During Epileptogenesis

(2020) Till S. Zimmer et al.   Frontiers in Neurology

Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association

(2020) Christina Sidira et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Effects of rapamycin on social interaction deficits and gene expression in mice exposed to valproic acid in utero

(2019) Hiroko Kotajima-Murakami et al.   Molecular Brain

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype

(2019) Laura S. Farach et al.   PEDIATRIC NEUROLOGY

New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives

(2019) A. Mühlebner et al.   JOURNAL OF ANATOMY

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

(2019) Afshin Saffari et al.   Orphanet Journal of Rare Diseases

Powerhouse of the mind: mitochondrial plasticity at the synapse

(2019) Meghan J Rossi et al.   CURRENT OPINION IN NEUROBIOLOGY

Novel compounds for the modulation of mTOR and autophagy to treat neurodegenerative diseases

(2019) David Heras-Sandoval et al.   CELLULAR SIGNALLING

Abnormal mTOR Activation in Autism

(2018) Kellen D. Winden et al.   Annual Review of Neuroscience

MPS-IIIA mice acquire autistic behaviours with age

(2018) Adeline A. Lau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Autism is a prenatal disorder: Evidence from late gestation brain overgrowth

(2018) Fréderique Bonnet-Brilhault et al.   Autism Research

Transcriptional and Epigenetic Regulation by the Mechanistic Target of Rapamycin Complex 1 Pathway

(2018) R. Nicholas Laribee   JOURNAL OF MOLECULAR BIOLOGY

Dynamic landscape of the local translation at activated synapses

(2017) T M Khlebodarova et al.   MOLECULAR PSYCHIATRY

Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity

(2017) James Gilbert et al.   Frontiers in Cellular Neuroscience

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

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

Proteostasis and RNA Binding Proteins in Synaptic Plasticity and in the Pathogenesis of Neuropsychiatric Disorders

(2016) Matthew E. Klein et al.   NEURAL PLASTICITY

Novel Object Exploration as a Potential Assay for Higher Order Repetitive Behaviors in Mice

(2016) Jessica M. Steinbach et al.   Jove-Journal of Visualized Experiments

Tuberous sclerosis complex

(2016) Elizabeth P. Henske et al.   Nature Reviews Disease Primers

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

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

Novel object exploration in the C58/J mouse model of autistic-like behavior

(2015) Mikkal G. Blick et al.   BEHAVIOURAL BRAIN RESEARCH

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

(2015) Aglaia Vignoli et al.   Orphanet Journal of Rare Diseases

Megalencephaly and Macrocephaly

(2015) Kellen Winden et al.   SEMINARS IN NEUROLOGY

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

(2014) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

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

Improving basic and translational science by accounting for litter-to-litter variation in animal models

(2013) Stanley E Lazic et al.   BMC NEUROSCIENCE

Regulation of mTORC1 and its impact on gene expression at a glance

(2013) M. Laplante et al.   JOURNAL OF CELL SCIENCE

Comparative analysis ofTsc1andTsc2single and double radial glial cell mutants

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

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Darcy A. Krueger et al.   PEDIATRIC NEUROLOGY

Vigabatrin Inhibits Seizures and mTOR Pathway Activation in a Mouse Model of Tuberous Sclerosis Complex

(2013) Bo Zhang et al.   PLoS One

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

(2012) Atsushi Sato et al.   Nature Communications

Prenatal activation of Toll-like receptors-3 by administration of the viral mimetic poly(I:C) changes synaptic proteins, N-methyl-D-aspartate receptors and neurogenesis markers in offspring

(2012) Caroline M Forrest et al.   Molecular Brain

Synaptic Plasticity and Learning in Animal Models of Tuberous Sclerosis Complex

(2012) Timo Kirschstein   NEURAL PLASTICITY

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

Loss of Tsc1 In Vivo Impairs Hippocampal mGluR-LTD and Increases Excitatory Synaptic Function

(2011) H. S. Bateup et al.   JOURNAL OF NEUROSCIENCE

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1

(2011) Joungmok Kim et al.   NATURE CELL BIOLOGY

Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders

(2011) C. W. Nordahl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epilepsy and Tsc2 Haploinsufficiency Lead to Autistic-Like Social Deficit Behaviors in Rats

(2010) Robert Waltereit et al.   BEHAVIOR GENETICS

Mitochondrial dysfunction in autism spectrum disorders: Cause or effect?

(2010) Luigi Palmieri et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice

(2010) D Ehninger et al.   MOLECULAR PSYCHIATRY

The tuberous sclerosis complex

(2009) Ksenia A. Orlova et al.   Annals of the New York Academy of Sciences

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

ULK1·ATG13·FIP200 Complex Mediates mTOR Signaling and Is Essential for Autophagy

(2009) Ian G. Ganley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Object recognition memory and the rodent hippocampus

(2009) N. J. Broadbent et al.   LEARNING & MEMORY

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

The Tsc1-Tsc2 complex influences neuronal polarity by modulating TORC1 activity and SAD levels

(2008) J. Wildonger et al.   GENES & DEVELOPMENT

Tuberous sclerosis

(2008) Paolo Curatolo et al.   LANCET

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE

Characterization of Autism in Young Children With Tuberous Sclerosis Complex

(2007) Shafali S. Jeste et al.   JOURNAL OF CHILD NEUROLOGY