Research Topics
Genomes and Genes
| Vijaya RameshSummaryAffiliation: Harvard University Country: USA Publications
Research Grants
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Detail Information
Publications
Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesionsSangyeul Han
Molecular Neurogenetics Unit, Molecular Neuro Oncology, and Department of Neurology, Harvard Medical School Massachusetts General Hospital, Charlestown, Massachusetts, USA
Cancer Res 64:812-6. 2004..These results have widespread implications for understanding the tissue specificity of tumor suppressor gene phenotypes...- TorsinB--perinuclear location and association with torsinAJeffrey W Hewett
Departments of Neurology and Radiology, Molecular Neurogenetics Unit, Massachusetts General Hospital, 13th Street, Charlestown, MA 02129, USA
J Neurochem 89:1186-94. 2004..We conclude that torsinB and torsinA are localized in overlapping cell compartments within the same protein complex, and thus may carry out related functions in vivo... - Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2Thorsten Wiederhold
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA
Oncogene 23:8815-25. 2004..These results support a role for merlin in receptor-mediated signaling at the cell surface, and may have implications in the regulation of cytoskeletal reorganization... 
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorderSamira Bahl
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Mol Autism 4:5. 2013....- Merlin and the ERM proteins in Schwann cells, neurons and growth conesVijaya Ramesh
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
Nat Rev Neurosci 5:462-70. 2004 - Aspects of tuberous sclerosis complex (TSC) protein function in the brainV Ramesh
Molecular Neurogenetics Unit, Massachusetts General Hospital, Building 149, 13th Street, Charlestown, MA 02129, USA
Biochem Soc Trans 31:579-83. 2003..All these observations suggest that the tuberin-hamartin complex is likely to have distinct functions in the CNS... - Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complexVanishree Murthy
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
J Biol Chem 279:1351-8. 2004..Therefore, we hypothesize that Pam, through its interaction with tuberin, could regulate the ubiquitination and proteasomal degradation of the tuberin-hamartin complex particularly in the CNS... - NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growthMarianne F James
Center for Human Genetic Research, Massachusetts General Hospital, Richard B Simches Research Building, 185 Cambridge St, Boston, MA 02114, USA
Mol Cell Biol 29:4250-61. 2009.... - The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization functionNitasha Manchanda
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
J Biol Chem 280:12517-22. 2005..This novel function of merlin and the ERMs illustrates a mechanism by which these proteins directly exert their effects on actin reorganization and also provides new insight into N-WASP regulation... - The early onset dystonia protein torsinA interacts with kinesin light chain 1Christoph Kamm
Molecular Neurogenetics Unit, Departments of Neurology and Radiology, Massachusetts General Hospital and Neuroscience Program, Harvard Medical School, Boston, MA 02114, USA
J Biol Chem 279:19882-92. 2004..These studies suggest that wild-type torsinA undergoes anterograde transport along microtubules mediated by kinesin and may act as a molecular chaperone regulating kinesin activity and/or cargo binding... 
Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell typesMarianne F James
Center for Human Genetic Research, Massachusetts General Hospital, Richard B Simches Research Building, 185 Cambridge Street, Boston, MA 02114, USA
Mol Cancer Res 10:649-59. 2012..These studies may ultimately aid in the development of suitable therapeutics for NF2-associated tumors...- Alternative splicing in protein associated with Myc (Pam) influences its binding to c-MycTúlio M Santos
Molecular Neurogenetics Unit and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
J Neurosci Res 83:222-32. 2006..The presence of Pam in many cellular compartments, its spliced variants, as well as its multiple binding partners, including tuberin, make it a complex, yet intriguing protein in the nervous system... - Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growthMarianne F James
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Richard B Simches Research Building, 185 Cambridge Street, Boston, MA 02114, USA
Neurobiol Dis 29:278-92. 2008..Merlin suppression by RNAi in arachnoidal cells replicated merlin-deficient meningioma features, thus establishing these cell systems as disease-relevant models for studying NF2 tumorigenesis... - Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulationMing Fen Lee
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
Biochem Biophys Res Commun 348:826-31. 2006.... - Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signalingSangyeul Han
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Cell Signal 20:1084-91. 2008.... - The E3 ubiquitin ligase protein associated with Myc (Pam) regulates mammalian/mechanistic target of rapamycin complex 1 (mTORC1) signaling in vivo through N- and C-terminal domainsSangyeul Han
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
J Biol Chem 287:30063-72. 2012..The ubiquitin ligase complex containing Pam-Fbxo45 likely targets additional synaptic and axonal proteins, which may explain the overlapping neurodevelopmental defects observed in Phr1 and Fbxo45 deficiency... - Mediator subunit MED28 (Magicin) is a repressor of smooth muscle cell differentiationKim S Beyer
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston 02114, and Department of Cell Biology, Harvard Medical School, Charlestown, Massachusetts 02129, USA
J Biol Chem 282:32152-7. 2007.... - Distribution and ultrastructural localization of torsinA immunoreactivity in the human brainSarah J Augood
Neurology Service, Massachusetts General Hospital and Harvard Medical School, CNY 114 2300, 114 16th Street, Charlestown, MA 02129, USA
Brain Res 986:12-21. 2003.... - Functions of MUC16 in corneal epithelial cellsTimothy D Blalock
Department of Ophthalmology, Schepens Eye Research Institute, Harvard Medical School, Boston, Massachusetts 02114, USA
Invest Ophthalmol Vis Sci 48:4509-18. 2007..The MUC16 cytoplasmic tail has not been characterized, but, because it contains a polybasic amino acid sequence, it potentially interacts with the actin cytoskeleton through ezrin/radixin/moesin (ERM) actin-binding proteins... - Aberrant hyperactivation of akt and Mammalian target of rapamycin complex 1 signaling in sporadic chordomasSangyeul Han
Center for Human Genetic Research, Massachusetts General Hospital, Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA
Clin Cancer Res 15:1940-6. 2009..In this study, we investigated whether aberrant TSC/mammalian target of rapamycin complex 1 (mTORC1) signaling pathway is associated with sporadic chordomas... - A NHERF binding site links the betaPDGFR to the cytoskeleton and regulates cell spreading and migrationMarianne F James
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Building 149, 13th Street, Charlestown, MA 02129, USA
J Cell Sci 117:2951-61. 2004..Thus, the interaction of betaPDGFR with NHERF may provide an essential link between the cell membrane and the cortical actin cytoskeleton independent of receptor activity... - Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningiomaFabio Nunes
Department of Neurology, Massachusetts General Hospital, Building 149, 13th Street, Charlestown, MA 02129, USA
Cancer Genet Cytogenet 162:135-9. 2005..Furthermore, we found the majority of meningiomas developed monosomy rather than isodisomy at the NF2 and DAL-1/4.1B loci as the mechanism for LOH... - The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeletonLuciana A Haddad
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA
J Biol Chem 277:44180-6. 2002.... - Role of NHERF1, cystic fibrosis transmembrane conductance regulator, and cAMP in the regulation of aquaporin 9Christine Pietrement
Center for Systems Biology, Program in Membrane Biology Nephrology Division, Simches Research Center, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
J Biol Chem 283:2986-96. 2008..We propose that CFTR is an important regulator of AQP9 and that the interaction between AQP9, NHERF1, and CFTR may facilitate the activation of AQP9 by cAMP... - TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stressJeffrey Hewett
Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, Massachusetts, USA
J Neurosci Res 72:158-68. 2003..Mutant torsinA may interfere with and/or compromise ER functions, especially in dopaminergic neurons, which have high levels of torsinA and are intrinsically vulnerable to oxidative stress... - A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutationPenelope S Roberts
Hematology Division, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA
Ann Hum Genet 67:495-503. 2003..We also excluded the possibility of mosaicism in the parents with this variant. We conclude that this deletion is a rare polymorphism that does not cause TSC, but may be a modifier of the TSC phenotype... - Genomic profiling distinguishes familial multiple and sporadic multiple meningiomasYiping Shen
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, 02114, USA
BMC Med Genomics 2:42. 2009.... - TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletionKevin Rostasy
Pediatric Neurology Floating Hospital, Boston, MA, USA
Neurobiol Dis 12:11-24. 2003.... - Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levelsDavid Reich
Department of Genetics, Harvard Medical School, New Research Building, Boston, MA 02115, USA
Am J Hum Genet 80:716-26. 2007..0x10-12 for IL-6 SR, and P<2.0x10-9 for IL-6. These results also serve as an important proof of principle, showing that admixture mapping can not only coarsely localize but can also fine map a phenotypically important variant... - Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2Lisa Lee-Jones
Tumour Molecular Genetics Group, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
Genes Chromosomes Cancer 41:80-5. 2004..These data provide the first evidence of a pathogenic role by TSC genes in sacrococcygeal chordomas... - Layilin, a cell surface hyaluronan receptor, interacts with merlin and radixinPetri Bono
Howard Hughes Medical Institute, Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
Exp Cell Res 308:177-87. 2005.... - Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosisDan Ehninger
Department of Neurobiology, Brain Research Institute, University of California, Los Angeles, 695 Charles E Young Drive South, Los Angeles, California 90095, USA
Nat Med 14:843-8. 2008....
Research Grants
- CHARACTERIZATION OF TSC PROTEIN HAMARTIN AND TUBERINVijaya Ramesh; Fiscal Year: 2005..The information obtained here will elucidate the physiological functions of these tumor suppressors, which will aid in designing better therapies. ..
- 2006 NF Consortium for NF1, NF2 and SchwannomatosisVijaya Ramesh; Fiscal Year: 2006..This will promote to the research community at large the status of NF research, the link with other cancers and neurological disorders and the key barriers to be addressed. ..
- Genes that deregulate mTOR signaling as candidates for autism spectrum disordersVijaya Ramesh; Fiscal Year: 2007..This project will test whether genes that control mTOR signaling are associated with an increased risk for Autism Spectrum Disorders, and thus has direct relevance to public health. ..