Search Results - "Hewett, Jeffrey W"

A highly sensitive assay for monitoring the secretory pathway and ER stress by Badr, Christian E, Hewett, Jeffrey W, Breakefield, Xandra O, Tannous, Bakhos A

“…The secretory pathway is a critical index of the capacity of cells to incorporate proteins into cellular membranes and secrete proteins into the extracellular…”
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Identification of a novel NAMPT inhibitor by CRISPR/Cas9 chemogenomic profiling in mammalian cells by Estoppey, David, Hewett, Jeffrey W., Guy, Chantale T., Harrington, Edmund, Thomas, Jason R., Schirle, Markus, Cuttat, Rachel, Waldt, Annick, Gerrits, Bertran, Yang, Zinger, Schuierer, Sven, Pan, Xuewen, Xie, Kevin, Carbone, Walter, Knehr, Judith, Lindeman, Alicia, Russ, Carsten, Frias, Elizabeth, Hoffman, Gregory R., Varadarajan, Malini, Ramadan, Nadire, Reece-Hoyes, John S., Wang, Qiong, Chen, Xin, McAllister, Gregory, Roma, Guglielmo, Bouwmeester, Tewis, Hoepfner, Dominic

“…Chemogenomic profiling is a powerful and unbiased approach to elucidate pharmacological targets and the mechanism of bioactive compounds. Until recently,…”
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The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response by Chen, Pan, Burdette, Alexander J., Porter, J. Christopher, Ricketts, John C., Fox, Stacey A., Nery, Flavia C., Hewett, Jeffrey W., Berkowitz, Laura A., Breakefield, Xandra O., Caldwell, Kim A., Caldwell, Guy A.

“…Early-onset torsion dystonia is the most severe heritable form of dystonia, a human movement disorder that typically starts during a developmental window in…”
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Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells by Hewett, Jeffrey W, Tannous, Bakhos, Niland, Brian P, Nery, Flavia C, Zeng, Juan, Li, Yuqing, Breakefield, Xandra O

“…TorsinA is an AAA⁺ protein located predominantly in the lumen of the endoplasmic reticulum (ER) and nuclear envelope responsible for early onset torsion…”
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Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics by Hewett, Jeffrey W., Zeng, Juan, Niland, Brian P., Bragg, D. Cristopher, Breakefield, Xandra O.

“…Early onset torsion dystonia is a movement disorder inherited as an autosomal dominant syndrome with reduced penetrance. Symptoms appear to result from altered…”
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The early-onset torsion dystonia gene ( DYT1 ) encodes an ATP-binding protein by Ozelius, Laurie J, Hewett, Jeffrey W, Page, Curtis E, Bressman, Susan B, Kramer, Patricia L, Shalish, Christo, de Leon, Deborah, Brin, Mitchell F, Raymond, Deborah, Corey, David P, Fahn, Stanley, Risch, Neil J, Buckler, Alan J, Gusella, James F, Breakefield, Xandra O

“…Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result…”
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Chemical enhancement of torsinA function in cell and animal models of torsion dystonia by Cao, Songsong, Hewett, Jeffrey W, Yokoi, Fumiaki, Lu, Jun, Buckley, Amber Clark, Burdette, Alexander J, Chen, Pan, Nery, Flavia C, Li, Yuqing, Breakefield, Xandra O, Caldwell, Guy A, Caldwell, Kim A

“…Movement disorders represent a significant societal burden for which therapeutic options are limited and focused on treating disease symptomality. Early-onset…”
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TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion by Rostasy, Kevin, Augood, Sarah J, Hewett, Jeffrey W, Leung, Joanne Chung-on, Sasaki, Hikaru, Ozelius, Laurie J, Ramesh, Vijaya, Standaert, David G, Breakefield, Xandra O, Hedreen, John C

“…Familial, early onset, generalized torsion dystonia is the most common and severe primary dystonia. Most cases are caused by a 3-bp deletion (GAG) in the…”
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siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells by Hewett, Jeffrey W., Nery, Flávia C., Niland, Brian, Ge, Pei, Tan, Pamela, Hadwiger, Philipp, Tannous, Bakhos A., Sah, Dinah W.Y., Breakefield, Xandra O.

“…Most cases of the dominantly inherited movement disorder, early onset torsion dystonia (DYT1) are caused by a mutant form of torsinA lacking a glutamic acid…”
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TorsinB – perinuclear location and association with torsinA by Hewett, Jeffrey W., Kamm, Christoph, Boston, Heather, Beauchamp, Roberta, Naismith, Teri, Ozelius, Laurie, Hanson, Phyllis I., Breakefield, Xandra O., Ramesh, Vijaya

“…The torsins comprise a four‐member family of AAA+ chaperone proteins, including torsinA, torsinB, torp2A and torp3A in humans. Mutations in torsinA underlie…”
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The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response by Chen, Pan, Burdette, Alexander J., Porter, J. Christopher, Ricketts, John C., Fox, Stacey A., Nery, Flavia C., Hewett, Jeffrey W., Berkowitz, Laura A., Breakefield, Xandra O., Caldwell, Kim A., Caldwell, Guy A.

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The TOR1A (DYT1) Gene Family and Its Role in Early Onset Torsion Dystonia by Ozelius, Laurie J., Page, Curtis E., Klein, Christine, Hewett, Jeffrey W., Mineta, Mari, Leung, Joanne, Shalish, Christo, Bressman, Susan B., de Leon, Deborah, Brin, Mitchell F., Fahn, Stanley, Corey, David P., Breakefield, Xandra O.

“…Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A gene (alias DYT1, DQ2), resulting in loss of a…”
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