Research Topics
Genomes and Genes
| Subramaniam GaneshSummaryAffiliation: Indian Institute of Technology Country: India Publications
| Collaborators
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Detail Information
Publications
Malin and laforin are essential components of a protein complex that protects cells from thermal stressSonali Sengupta
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
J Cell Sci 124:2277-86. 2011..This study demonstrates that laforin and malin are key regulators of HSF1 and that defects in the HSF1-mediated stress response pathway might underlie some of the pathological symptoms in LD...
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domainSubramaniam Ganesh
Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1, Hirosawa, Wakoshi 351 0198, Japan
Hum Mol Genet 12:2359-68. 2003....- The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodiesSubramaniam Ganesh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Biochem Biophys Res Commun 313:1101-9. 2004..This is the first report demonstrating a direct association between the LD gene product and the disease-defining storage product, the Lafora bodies... - Neuronal survival in epilepsy: to die or not to die?Subramaniam Ganesh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208 016, India
J Biosci 30:561-6. 2005 - Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsySubramaniam Ganesh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, 208016, India
J Hum Genet 51:1-8. 2006..Finally, we also discuss a possible mechanism to explain the locus heterogeneity observed in LD... - Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteinsSubramaniam Ganesh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kalyanpur, Kanpur, UP 208016, India
Neurosci Lett 387:62-7. 2005..Our study may provide valuable insights into the pathophysiology of LD and may aid in developing potential therapeutic targets... - The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome systemPunitee Garyali
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Hum Mol Genet 18:688-700. 2009.... - Association between inflammatory gene polymorphisms and coronary artery disease in an Indian populationIndranil Banerjee
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, 208016, India
J Thromb Thrombolysis 27:88-94. 2009.... - Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairmentShuchi Mittal
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, 208016, India
Hum Mol Genet 16:753-62. 2007..Thus, defects in protein degradation and clearance are likely to be the primary trigger in the physiopathology of LD... 
Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora diseaseRajat Puri
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
J Biol Chem 284:22657-63. 2009....- The laforin-malin complex negatively regulates glycogen synthesis by modulating cellular glucose uptake via glucose transportersPankaj Kumar Singh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Mol Cell Biol 32:652-63. 2012..Loss of laforin or malin, however, did not affect glycogen catabolism. Thus, the excessive cellular glucose level appears to be the primary trigger for the abnormally higher levels of cellular glycogen seen in LD... - Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in miceSubramaniam Ganesh
Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Saitama, Japan
Hum Mol Genet 11:1251-62. 2002..Our results suggest that LD is a primary neurodegenerative disorder that may utilize a non-apoptotic mechanism of cell death... - Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsyDeepti Dubey
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Hum Mol Genet 17:3010-20. 2008..Thus, our findings reveal a novel mechanism for the EPM2A gene function, regulated by alternative splicing, in normal as well as disease conditions... - Association of angiotensin-converting enzyme, methylene tetrahydrofolate reductase and paraoxonase gene polymorphism and coronary artery disease in an Indian populationUmeshwar Pandey
Department of Cardiology, LPS Institute of Cardiology and Cardiac Surgery, Kanpur, India
Cardiol J 18:385-94. 2011.... - Spatial positions of homopolymeric repeats in the human proteome and their effect on cellular toxicityPratibha Siwach
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kalyanpur, Kanpur 208016, India
Biochem Biophys Res Commun 380:382-6. 2009..Thus, the cellular toxicity appears to be one of the selective processes that regulate the evolution of homopolymeric repeats in the proteome... - Increased glucose concentration results in reduced proteasomal activity and the formation of glycogen positive aggresomal structuresRajat Puri
Department of Biological Sciences and Bioengineering, India Institute of Technology, Kanpur, India
FEBS J 278:3688-98. 2011..Taken together, the findings of the present study suggest a functional link between proteasomal function and polyglucosan bodies, and also suggest that these two physiological processes could be linked in neurodegenerative disorders... - Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese populationShweta Singh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
J Hum Genet 50:347-52. 2005..Our study, in addition to documenting the genetic and molecular heterogeneity observed for LD, suggests that mutations in the NHLRC1 gene may be a common cause of LD in the Japanese population... - Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malinShweta Singh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Hum Mutat 29:E1-12. 2008..Our results suggest that the altered subcellular localization of mutant proteins of the EPM2A and NHLRC1 genes could be one of the molecular bases of the LD phenotype... - Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora diseaseRajat Puri
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
Hum Mol Genet 21:175-84. 2012.... - Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsyDeepti Dubey
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, 208016, India
Genomics 99:36-43. 2012..Thus alternative splicing could possibly be one of the mechanisms by which EPM2A may regulate the cellular functions of the proteins it codes for... - Proline repeats, in cis- and trans-positions, confer protection against the toxicity of misfolded proteins in a mammalian cellular modelPratibha Siwach
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kalyanpur, Kanpur, UP 208016, India
Neurosci Res 70:435-41. 2011..Thus, our study elucidates the mechanism by which the proline repeat tract might ameliorate the toxicity of misfolded proteins, and opens up new therapeutic modalities for disorders caused by cytotoxic misfolded proteins... - Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genesShweta Singh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Hum Mutat 30:715-23. 2009.... - Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotypeSubramaniam Ganesh
Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Japan
Hum Mol Genet 11:1263-71. 2002..Our data, thus, represent the first report of a novel childhood syndrome for LD. Our results also provide clues for distinct roles for the CBD-4 and DSP domains of laforin in the etiology of two subsyndromes of LD... - Inflammatory system gene polymorphism and the risk of stroke: a case-control study in an Indian populationIndranil Banerjee
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
Brain Res Bull 75:158-65. 2008..In conclusion, the -889 C/T and SNP83 T/C SNPs of the IL-1alpha and PDE4D genes, respectively, appear to be genetic risk factors for stroke in our study population... - Satellite III non-coding RNAs show distinct and stress-specific patterns of inductionSonali Sengupta
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208 016, India
Biochem Biophys Res Commun 382:102-7. 2009..Thus, induction of SatIII transcripts appears to be a generic response to a variety of stress conditions... - Protein quality control mechanisms and neurodegenerative disorders: Checks, balances and deadlocksShuchi Mittal
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kalyanpur, Kanpur 208016, UP, India
Neurosci Res 68:159-66. 2010.... - Mutations in EFHC1 cause juvenile myoclonic epilepsyToshimitsu Suzuki
Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako Shi, Saitama, 351 0198, Japan
Nat Genet 36:842-9. 2004..3 C terminus. In patch-clamp analysis, EFHC1 specifically increased R-type Ca(2+) currents that were reversed by the mutations associated with JME... - Non-coding RNAs in polyglutamine disorders: friend or foe?Sonali Sengupta
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208 016, India
J Biosci 33:303-6. 2008 - Autophagy defects in Lafora disease: cause or consequence?Rajat Puri
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Autophagy 8:289-90. 2012..Here we review one of our recent studies on the LD animal model, wherein we have shown that the Lafora bodies might contribute to the impairment in the endosomal-lysosomal and autophagy pathways... - Laforin in autophagy: a possible link between carbohydrate and protein in Lafora disease?Rajat Puri
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Autophagy 6:1229-31. 2010..Thus, laforin’s proposed role in autophagy suggests a possible link between the proteolytic system and the polyglucosan inclusions in LD... - Alternative splicing modulates subcellular localization of laforinSubramaniam Ganesh
Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako Shi, Saitama 351 0198, Japan
Biochem Biophys Res Commun 291:1134-7. 2002..Our results are significant in light of the finding that laforin is an active phosphatase; therefore, isoforms targeted to different cellular compartments might dephosphorylate and regulate distinct cellular substrates... - Tandem repeats in human disorders: mechanisms and evolutionPratibha Siwach
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Front Biosci 13:4467-84. 2008..In this review, we aim to provide an overview of the recent advances in molecular pathology of disorders associated with heritable changes in the length of the repeat sequences, and examine how dynamism in these repeats is regulated... - Lafora disease E3 ubiquitin ligase malin is recruited to the processing bodies and regulates the microRNA-mediated gene silencing process via the decapping enzyme Dcp1aSweta Singh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
RNA Biol 9:1440-9. 2012..Our study suggests that malin is one of the critical regulators of processing bodies and that defects in the mRNA processing might underlie some of the disease symptoms in LD... - Association of gene polymorphism with genetic susceptibility to stroke in Asian populations: a meta-analysisIndranil Banerjee
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
J Hum Genet 52:205-19. 2007.... - Genomic and evolutionary insights into genes encoding proteins with single amino acid repeatsPratibha Siwach
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Mol Biol Evol 23:1357-69. 2006..Therefore, instability associated with repeats might be driven by processes that are specific to sperm or oocyte development, and the recombination frequency might play a positive role in this process... - Recent developments in the quest for myoclonic epilepsy genesAntonio V Delgado-Escueta
Epilepsy Genetics Genomics Laboratory, Comprehensive Epilepsy Program, UCLA School of Medicine and VA GLAHS Epilepsy Center of Excellence, Los Angeles, California, U S A
Epilepsia 44:13-26. 2003....