Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex

New frontiers in modeling tuberous sclerosis with human stem cell‐derived neurons and brain organoids

(2019) John D. Blair et al.   DEVELOPMENTAL DYNAMICS

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

(2019) Krinio Giannikou et al.   GENETICS IN MEDICINE

A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex

(2019) Iris E. Overwater et al.   NEUROLOGY

Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

(2019) IE Overwater et al.   Therapeutics and Clinical Risk Management

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

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

All-Optical Assay to Study Biological Neural Networks

(2018) Wardiya Afshar Saber et al.   Frontiers in Neuroscience

All-Optical Electrophysiology for High-Throughput Functional Characterization of a Human iPSC-Derived Motor Neuron Model of ALS

(2018) Evangelos Kiskinis et al.   Stem Cell Reports

Neural progenitors derived from Tuberous Sclerosis Complex patients exhibit attenuated PI3K/AKT signaling and delayed neuronal differentiation

(2018) Avery J. Zucco et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Genetically engineered human cortical spheroid models of tuberous sclerosis

(2018) John D. Blair et al.   NATURE MEDICINE

Tuberous sclerosis complex: new insights into clinical and therapeutic approach

(2018) Angela Volpi et al.   JOURNAL OF NEPHROLOGY

Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors

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

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

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

Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

(2017) Ebru Ercan et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Systematic gene tagging using CRISPR/Cas9 in human stem cells to illuminate cell organization

(2017) Brock Roberts et al.   MOLECULAR BIOLOGY OF THE CELL

Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice

(2017) Catherine J. Stoodley et al.   NATURE NEUROSCIENCE

The genomic landscape of tuberous sclerosis complex

(2017) Katie R. Martin et al.   Nature Communications

Abnormal Neural Progenitor Cells Differentiated from Induced Pluripotent Stem Cells Partially Mimicked Development of TSC2 Neurological Abnormalities

(2017) Yaqin Li et al.   Stem Cell Reports

Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders

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

Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC): evidence from layer-specific marker expression

(2016) Angelika Mühlebner et al.   Journal of Neurodevelopmental Disorders

Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference

(2016) Mustafa Sahin et al.   PEDIATRIC NEUROLOGY

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

Is mTOR Inhibitor Good Enough for Treatment All Tumors in TSC Patients?

(2016) Samy L Habib et al.   Journal of Cancer

Tuberous sclerosis complex

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

Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture

(2015) Anca M Paşca et al.   NATURE METHODS

Osteoprotegerin Contributes to the Metastatic Potential of Cells with a Dysfunctional TSC2 Tumor-Suppressor Gene

(2013) Wendy K. Steagall et al.   AMERICAN JOURNAL OF PATHOLOGY

Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells

(2013) Yingsha Zhang et al.   NEURON

Self-organization of axial polarity, inside-out layer pattern, and species-specific progenitor dynamics in human ES cell-derived neocortex

(2013) T. Kadoshima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

mTOR signaling in neural stem cells: from basic biology to disease

(2012) Laura Magri et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

(2012) Peter T. Tsai et al.   NATURE

Emerging Treatments in the Management of Tuberous Sclerosis Complex

(2012) Michael H. Kohrman   PEDIATRIC NEUROLOGY

mTOR Activation, Lymphangiogenesis, and Estrogen-Mediated Cell Survival: The “Perfect Storm” of Pro-Metastatic Factors in LAM Pathogenesis

(2010) Jane Yu et al.   Lymphatic Research and Biology

The Methylation of the TSC2 Promoter Underlies the Abnormal Growth of TSC2 Angiomyolipoma-Derived Smooth Muscle Cells

(2009) Elena Lesma et al.   AMERICAN JOURNAL OF PATHOLOGY

Doublecortin-like (DCL) expression in focal cortical dysplasia and cortical tubers

(2009) Karin Boer et al.   EPILEPSIA

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

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers

(2008) Delia M. Talos et al.   ANNALS OF NEUROLOGY

Lymphatic Involvement in Lymphangioleiomyomatosis

(2008) Connie G. Glasgow et al.   Annals of the New York Academy of Sciences