Molecular Pathogenesis of Tuber Formation in Tuberous Sclerosis Complex

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Journal of Child Neurology

• Publication date

  2004-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1177/08830738040190091301PMID 15563019
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Cortical tubers demonstrate reduced immunoreactivity for synapsin I

  2004cited by this paper
• Phosphorylation of Tuberin as a Novel Mechanism for Somatic Inactivation of the Tuberous Sclerosis Complex Proteins in Brain Lesions

  2004cited by this paper
• Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron microscopic study

  2004cited by this paper
• Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma.

  2003cited by this paper
• Markers of cellular proliferation are expressed in cortical tubers

  2003cited by this paper
• Expression of ICAM-1, TNF-alpha, NF kappa B, and MAP kinase in tubers of the tuberous sclerosis complex.

  2003cited by this paper
• Expression of ICAM-1, TNF-α, NFκB, and MAP kinase in tubers of the tuberous sclerosis complex

  2003cited by this paper
• Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

  2002cited by this paper
• Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway.

  2002cited by this paper
• TSC1–TSC2: a complex tale of PKB-mediated S6K regulation

  2002cited by this paper
• Prolonged Seizures Increase Proliferating Neuroblasts in the Adult Rat Subventricular Zone–Olfactory Bulb Pathway

  2002cited by this paper
• TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

  2002cited by this paper
• Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors.

  2002cited by this paper
• Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex.

  2002cited by this paper
• Tsc tumour suppressor proteins antagonize amino-acid–TOR signalling

  2002cited by this paper
• Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers

  2001cited by this paper
• Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

  2001cited by this paper
• Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

  2001cited by this paper
• Hamartin and Tuberin Interaction With the G2/M Cyclin‐Dependent Kinase CDK1 and Its Regulatory Cyclins A and B

  2001cited by this paper
• Differential cellular expression of neurotrophins in cortical tubers of the tuberous sclerosis complex.

  2001cited by this paper
• TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth.

  2001cited by this paper
• Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size.

  2001cited by this paper
• TOR, a central controller of cell growth.

  2000cited by this paper
• Epilepsy Surgery in Children with Tuberous Sclerosis Complex: Presurgical Evaluation and Outcome

  2000cited by this paper
• The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho

  2000cited by this paper
• CD44 Expression in Tuberous Sclerosis

  2000cited by this paper
• Tuberous sclerosis complex.

  2000cited by this paper
• Co‐Localization of TSC1 and TSC2 Gene Products in Tubers of Patients with Tuberous Sclerosis

  1999cited by this paper
• MR imaging of tuberous sclerosis in neonates and young infants.

  1999cited by this paper
• New developments in the neurobiology of the tuberous sclerosis complex.

  1999cited by this paper
• Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria

  1998cited by this paper
• Surgical treatment of epilepsy in tuberous sclerosis

  1998cited by this paper
• A role of the tuberous sclerosis gene-2 product during neuronal differentiation

  1998cited by this paper
• White matter abnormalities in tuberous sclerosis complex

  1998cited by this paper
• Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.

  1998cited by this paper
• Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

  1998cited by this paper
• Tuberin immunohistochemistry in brain, kidneys and heart with or without tuberous sclerosis

  1997cited by this paper
• Evidence of abnormal differentiation in giant cells of tuberous sclerosis.

  1997cited by this paper
• Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study

  1997cited by this paper
• Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors.

  1997cited by this paper
• Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

  1997cited by this paper
• Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues.

  1997cited by this paper
• Role of the Tuberous Sclerosis Gene-2 Product in Cell Cycle Control

  1997cited by this paper
• Expression of the tuberous sclerosis 2 gene product, tuberin, in adult and developing nervous system tissues.

  1996cited by this paper
• Tuberous sclerosis-like lesions in epileptogenic human neocortex lack allelic loss at the TSC1 and TSC2 regions

  1996cited by this paper
• Immunohistochemical characterization of subependymal giant cell astrocytomas

  1996cited by this paper
• Localization of Tuberous Sclerosis 2 mRNA and its Protein Product Tuberin in Normal Human Brain and in Cerebral Lesions of Patients with Tuberous Sclerosis

  1996cited by this paper
• Co-localization of the TSC2 product tuberin with its target Rap1 in the Golgi apparatus.

  1996cited by this paper
• Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

  1996cited by this paper
• Embryonic neuronal markers in tuberous sclerosis: single-cell molecular pathology.

  1996cited by this paper
• The tuberous sclerosis 2 gene is expressed at high levels in the cerebellum and developing spinal cord.

  1995cited by this paper
• Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients

  1994cited by this paper
• Identification and characterization of the tuberous sclerosis gene on chromosome 16

  1993cited by this paper
• Pathology of Tuberous Sclerosis

  1991cited by this paper
• Pathology of tuberous sclerosis. Neuropathologic aspects.

  1991cited by this paper
• Fine structure of cortical tubers in tuberous sclerosis: A Golgi study

  1984cited by this paper
• Ultrastructure of tuberous sclerosis: Cortical tuber and subependymal tumor

  1981cited by this paper

• Overcoming multifaceted challenges in cancer treatment: Targeting signal transduction pathways and tumor microenvironment for enhanced therapeutic efficacy

  2025cites this paper
• Insights into Tuberous Sclerosis Complex : From Genes to Clinics

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• Cortical Tuber Types in Tuberous Sclerosis Complex: Need for New MRI-Based Classification System Incorporating Changes in Susceptibility Weighted Imaging

  2025cites this paper
• Cenobamate's Efficacy for Seizure Treatment in Tuberous Sclerosis Complex.

  2024cites this paper
• Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.

  2024cites this paper
• Somatostatin-expressing inhibitory neurons with mTORC1 activation in cortical layers 4/5 are involved in the epileptogenesis of mice

  2024cites this paper
• The Epidemiology of Brain and Spinal Cord Tumors.

  2023cites this paper
• Specific Features of Focal Cortical Dysplasia in Tuberous Sclerosis Complex

  2023cites this paper
• Treatment of Pediatric Low-Grade Gliomas

  2023cites this paper
• Qualitative and quantitative evaluation for the heterogeneity of cortical tubers using structural imaging and diffusion-weighted imaging to predict the epileptogenicity in tuberous sclerosis complex patients

  2022cites this paper
• Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex.

  2021cites this paper
• BRAFV600E Expression in Mouse Neuroglial Progenitors Increase Neuronal Excitability, Cause Appearance of Balloon-like cells, Neuronal Mislocalization, and Inflammatory Immune response

  2019cites this paper
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  2018cites this paper
• Cognitive Function Estimation in Children with Tuberous Sclerosis

  2018cites this paper
• Macrocephaly: Solving the Diagnostic Dilemma

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• Multiple Critical Periods for Rapamycin Treatment to Correct Structural Defects in Tsc-1-Suppressed Brain

  2018cites this paper
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  2018cites this paper
• Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin

  2017cites this paper
• Phakomatoses-Neurocutaneous Syndromes

  2017cites this paper
• Role of mTOR signaling pathway in the pathogenesis of subependymal giant cell astrocytoma - A study of 28 cases.

  2016cites this paper
• The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex.

  2016cites this paper
• Recent developments in brain tumor predisposing syndromes

  2016cites this paper
• Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia

  2016cites this paper
• Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement

  2016cites this paper
• Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex

  2016cites this paper
• ANKYRIN-B AND mTOR COMPLEX 1 IN THE REGULATION OF ELECTRICAL ACTIVITIES IN THE HEART

  2015cites this paper
• Megalencephaly and Macrocephaly

  2015cites this paper
• Glioma-like proliferation in a cortical hamartoma of tuberous sclerosis complex

  2014cites this paper
• The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis

  2014cites this paper
• Autism Spectrum Disorders in Tuberous Sclerosis

  2014cites this paper
• Conditional and domain‐specific inactivation of the Tsc2 gene in neural progenitor cells

  2013cites this paper
• Subependymal nodules and giant cell tumours in tuberous sclerosis complex patients: prevalence on MRI in relation to gene mutation

  2013cites this paper
• Tuberous sclerosis.

  2013cites this paper
• Newborn cortical neurons: only for neonates?

  2013cites this paper
• Chapter 121 – The Phakomatoses

  2013cites this paper
• Identifying Determinants for Neurobehavioral Morbidity in Tuberous Sclerosis Complex

  2013cites this paper
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  2013cites this paper
• Comparative analysis of Tsc1 and Tsc2 single and double radial glial cell mutants

  2013cites this paper
• Everolimus alters white matter diffusion in tuberous sclerosis complex

  2012cites this paper
• GABAergic interneuron development and function is modulated by the Tsc1 gene.

  2012cites this paper
• The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex.

  2012cites this paper
• Mammalian Target of Rapamycin (mTOR) Inhibition: Potential for Antiseizure, Antiepileptogenic, and Epileptostatic Therapy

  2012cites this paper
• 2 Tuberous Sclerosis Complex

  2012cites this paper
• Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion.

  2012cites this paper
• Synaptic Plasticity and Learning in Animal Models of Tuberous Sclerosis Complex

  2012cites this paper
• Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin.

  2012cites this paper
• Molecular Therapies for Tuberous Sclerosis and Neurofibromatosis

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• Tuberous sclerosis complex: genetic basis and management strategies

  2012cites this paper
• The role of TSC2 and deptor in fetal cortical development

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• Tuberous Sclerosis and Epilepsy

  2011cites this paper
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  2011cites this paper
• Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin

  2011cites this paper
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• Molecular alterations in epilepsy-associated malformations of cortical development

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• Zebrafish as a Simple Vertebrate Organism for Epilepsy Research

  2009cites this paper
• Recent advances in neurobiology of Tuberous Sclerosis Complex.

  2009cites this paper
• Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

  2009influential citation
• Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex

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  2008cites this paper
• The TSC1-TSC2 complex: a molecular switchboard controlling cell growth.

  2008cites this paper
• Management of epilepsy in tuberous sclerosis complex

  2008cites this paper
• The Tsc1-Tsc2 complex influences neuronal polarity by modulating TORC1 activity and SAD levels.

  2008cites this paper
• Tuberous sclerosis.

  2008cites this paper
• Neuroimaging correlation with neurological severity in tuberous sclerosis complex.

  2008cites this paper
• Characterization of Autism in Young Children With Tuberous Sclerosis Complex

  2008cites this paper
• Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex.

  2008cites this paper
• Longitudinal CT and MR appearances of hemimegalencephaly in a patient with tuberous sclerosis

  2008cites this paper
• The tuberous sclerosis complex regulates trafficking of glucose transporters and glucose uptake.

  2008cites this paper
• Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex

  2008cites this paper
• Optic disc tuber.

  2007cites this paper
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  2007cites this paper
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