Search Results - "Rashmi Kothary"

Metabolic Dysfunction in Spinal Muscular Atrophy by Deguise, Marc-Olivier, Chehade, Lucia, Kothary, Rashmi

“…Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to paralysis, muscle atrophy, and death. Significant advances in antisense…”
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Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model by Bowerman, Mélissa, Beauvais, Ariane, Anderson, Carrie L., Kothary, Rashmi

“…Spinal muscular atrophy (SMA) is an inherited disease resulting in the highest mortality of children under the age of two. SMA is caused by mutations or…”
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Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy by Bowerman, Melissa, Murray, Lyndsay M, Boyer, Justin G, Anderson, Carrie L, Kothary, Rashmi

“…Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. It is caused by mutations/deletions of the survival motor neuron 1 (SMN1) gene and…”
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Isolation of small extracellular vesicles from regenerating muscle tissue using tangential flow filtration and size exclusion chromatography by Gurriaran-Rodriguez, Uxia, De Repentigny, Yves, Kothary, Rashmi, Rudnicki, Michael A

“…We have recently made the strikingly discovery that upon a muscle injury, Wnt7a is upregulated and secreted from new regenerating myofibers on the surface of…”
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Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity by Bowerman, Mélissa, Shafey, Dina, Kothary, Rashmi

“…Spinal muscular atrophy (SMA) is the most common genetic disease resulting in infant mortality due to severe loss of alpha-motor neurons. SMA is caused by…”
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A novel function for the survival motoneuron protein as a translational regulator by Sanchez, Gabriel, Dury, Alain Y, Murray, Lyndsay M, Biondi, Olivier, Tadesse, Helina, El Fatimy, Rachid, Kothary, Rashmi, Charbonnier, Frédéric, Khandjian, Edouard W, Côté, Jocelyn

“…SMN1, the causative gene for spinal muscular atrophy (SMA), plays a housekeeping role in the biogenesis of small nuclear RNA ribonucleoproteins. SMN is also…”
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Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth by Salim Benlefki, Richard Younes, Désiré Challuau, Nathalie Bernard-Marissal, Cécile Hilaire, Frédérique Scamps, Melissa Bowerman, Rashmi Kothary, Bernard L. Schneider, Cedric Raoul

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Microtubule stability, Golgi organization, and transport flux require dystonin-a2-MAP1B interaction by Ryan, Scott D, Bhanot, Kunal, Ferrier, Andrew, De Repentigny, Yves, Chu, Alphonse, Blais, Alexandre, Kothary, Rashmi

“…Loss of function of dystonin cytoskeletal linker proteins causes neurodegeneration in dystonia musculorum (dt) mutant mice. Although much investigation has…”
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The myogenic kinome: protein kinases critical to mammalian skeletal myogenesis by Knight, James Dr, Kothary, Rashmi

“…Myogenesis is a complex and tightly regulated process, the end result of which is the formation of a multinucleated myofibre with contractile capability…”
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Suppression of the necroptotic cell death pathways improves survival in Smn2B/− mice by Chehade, Lucia, Deguise, Marc-Olivier, De Repentigny, Yves, Yaworski, Rebecca, Beauvais, Ariane, Gagnon, Sabrina, Hensel, Niko, Kothary, Rashmi

“…Spinal muscular atrophy (SMA) is a monogenic neuromuscular disease caused by low levels of the Survival Motor Neuron (SMN) protein. Motor neuron degeneration…”
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The Smn-independent beneficial effects of trichostatin A on an intermediate mouse model of spinal muscular atrophy by Liu, Hong, Yazdani, Armin, Murray, Lyndsay M, Beauvais, Ariane, Kothary, Rashmi

“…Spinal muscular atrophy is an autosomal recessive neuromuscular disease characterized by the progressive loss of alpha motor neurons in the spinal cord…”
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Abnormal fatty acid metabolism is a core component of spinal muscular atrophy by Deguise, Marc‐Olivier, Baranello, Giovanni, Mastella, Chiara, Beauvais, Ariane, Michaud, Jean, Leone, Alessandro, De Amicis, Ramona, Battezzati, Alberto, Dunham, Christopher, Selby, Kathryn, Warman Chardon, Jodi, McMillan, Hugh J., Huang, Yu‐Ting, Courtney, Natalie L., Mole, Alannah J., Kubinski, Sabrina, Claus, Peter, Murray, Lyndsay M., Bowerman, Melissa, Gillingwater, Thomas H., Bertoli, Simona, Parson, Simon H., Kothary, Rashmi

“…Objective Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to paralysis and subsequent death in young children. Initially…”
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Opening the window: the case for carrier and perinatal screening for spinal muscular atrophy by Burns, Joseph K, Kothary, Rashmi, Parks, Robin J

“…Highlights • Total medical and associated costs for SMA is $1 billion per year in the United States • Although there is no cure for SMA, several therapies are…”
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More than a bystander: the contributions of intrinsic skeletal muscle defects in motor neuron diseases by Boyer, Justin G, Ferrier, Andrew, Kothary, Rashmi

“…Spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), and spinal-bulbar muscular atrophy (SBMA) are devastating diseases characterized by the…”
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The proteolipid protein promoter drives expression outside of the oligodendrocyte lineage during embryonic and early postnatal development by Michalski, John-Paul, Anderson, Carrie, Beauvais, Ariane, De Repentigny, Yves, Kothary, Rashmi

“…The proteolipid protein (Plp) gene promoter is responsible for driving expression of one of the major components of myelin--PLP and its splice variant DM-20…”
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Integrin‐linked kinase regulates oligodendrocyte cytoskeleton, growth cone, and adhesion dynamics by Michalski, John‐Paul, Cummings, Sarah E., O'Meara, Ryan W., Kothary, Rashmi

“…Integrin‐linked kinase (ILK), a focal adhesion protein, brokers the link between cytoskeleton, cell membrane, and extracellular environment. Here, we…”
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Snf2h-mediated chromatin organization and histone H1 dynamics govern cerebellar morphogenesis and neural maturation by Alvarez-Saavedra, Matías, De Repentigny, Yves, Lagali, Pamela S., Raghu Ram, Edupuganti V. S., Yan, Keqin, Hashem, Emile, Ivanochko, Danton, Huh, Michael S., Yang, Doo, Mears, Alan J., Todd, Matthew A. M., Corcoran, Chelsea P., Bassett, Erin A., Tokarew, Nicholas J. A., Kokavec, Juraj, Majumder, Romit, Ioshikhes, Ilya, Wallace, Valerie A., Kothary, Rashmi, Meshorer, Eran, Stopka, Tomas, Skoultchi, Arthur I., Picketts, David J.

“…Chromatin compaction mediates progenitor to post-mitotic cell transitions and modulates gene expression programs, yet the mechanisms are poorly defined. Snf2h…”
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Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings by Pringle, Catherine Elizabeth, Nelson, Robert, Miller, Willie, Kothary, Rashmi, Michaud, Jean

“…Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor neuron 1 (SMN1) gene located on chromosome 5q13. Type III…”
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Cdx2 regulation of posterior development through non-Hox targets by Savory, Joanne G A, Bouchard, Nathalie, Pierre, Vicki, Rijli, Filippo M, De Repentigny, Yves, Kothary, Rashmi, Lohnes, David

“…The homeodomain transcription factors Cdx1, Cdx2 and Cdx4 play essential roles in anteroposterior vertebral patterning through regulation of Hox gene…”
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SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis by Bowerman, Mélissa, Anderson, Carrie L., Beauvais, Ariane, Boyl, Pietro Pilo, Witke, Walter, Kothary, Rashmi

“…Spinal muscular atrophy (SMA) is the most common human genetic disease resulting in infant mortality. SMA is caused by mutations or deletions in the…”
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