ArticleBrain pathology (Zurich, Switzerland)1999
Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis.
Article in Brain pathology (Zurich, Switzerland), 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 71 citations in OpenAlex.
- Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome.Current opinion in neurobiology · 2024Review
- Amplification of human interneuron progenitors promotes brain tumors and neurological defects.Science (New York, N.Y.) · 2022Article
- The 'ACCIDENTAL NEUROPATHOLOGIST'-PERSPECTIVES on 40 years in Neuropathology.Free neuropathology · 2020Article
- Exosomes mediate the acquisition of the disease phenotypes by cells with normal genome in tuberous sclerosis complex.Oncogene · 2016Article
- Mesenchymal Tumorigenesis Driven by TSC2 Haploinsufficiency Requires HMGA2 and Is Independent of mTOR Pathway Activation.Cancer research · 2016Article
- Lymphangioleiomyomatosis: what do we know and what are we looking for?European respiratory review : an official journal of the European Respiratory Society · 2011Review
- Biallelic TSC gene inactivation in tuberous sclerosis complex.Neurology · 2010Article
- Phosphatidylinositol 3-kinase (PI3K) pathway activation in bladder cancer.Cancer metastasis reviews · 2009Review
- Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.Human molecular genetics · 2008Article
- Differential Pi3K-pathway activation in cortical tubers and focal cortical dysplasias with balloon cells.Brain pathology (Zurich, Switzerland) · 2007Article
- Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans.American journal of respiratory cell and molecular biology · 2007Review
- The neurobiology of the tuberous sclerosis complex.Neuromolecular medicine · 2006Review
- Neurodevelopmental disorders as a cause of seizures: neuropathologic, genetic, and mechanistic considerations.Brain pathology (Zurich, Switzerland) · 2002Review
- Differential cellular expression of neurotrophins in cortical tubers of the tuberous sclerosis complex.The American journal of pathology · 2001Article
- Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.American journal of human genetics · 2001Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Two genes, mutations in which result in the phenotype of tuberous sclerosis (TSC), have recently been cloned. TSC2 on chromosome 16p13.3 encodes the protein tuberin, which appears to have growth regulating properties. TSC1 on chromosome 9q34 encodes hamartin which, as yet, has no specified cellular functions. Polyclonal antibodies were raised to synthetic peptides representing portions of tuberin and hamartin and used in immunoblots and immunohistochemical studies to localize the proteins in surgically resected neocortical tubers from four TSC patients. On Western blots of autopsy brain specimens, K-562 cell, and NT2 lysates, each antibody labelled a single band at the expected molecular weight. In immunohistochemical protocols on paraffin embedded tissue, antibodies to both tuberin and hamartin prominently labelled atypical and dysmorphic neuroglial cells that are a defining feature of TSC tubers. Some abnormal cells within cortical tuber sections were labelled with both tuberin and hamartin antisera. Our results suggest that tuberin and hamartin are both robustly expressed in similar populations of neuroglial cells of TSC tubers, even in the presence of TSC1 or TSC2 germline mutations. The roles of these gene products in normal and abnormal cortical development, tuber pathogenesis and the generation of seizures remain to be defined.
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