Search Results - "Spaulding, Emily L."

RG/RGG repeats in the C. elegans homologs of Nucleolin and GAR1 contribute to sub-nucleolar phase separation by Spaulding, Emily L., Feidler, Alexis M., Cook, Lio A., Updike, Dustin L.

“…The intrinsically disordered RG/RGG repeat domain is found in several nucleolar and P-granule proteins, but how it influences their phase separation into…”
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Accumulating Evidence for Axonal Translation in Neuronal Homeostasis by Spaulding, Emily L, Burgess, Robert W

“…The specialized structure of the neuron requires that homeostasis is sustained over the meter or more that may separate a cell body from its axonal terminus…”
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Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d by Spaulding, Emily L, Sleigh, James N, Morelli, Kathryn H, Pinter, Martin J, Burgess, Robert W, Seburn, Kevin L

“…Patients with Charcot-Marie-Tooth Type 2D (CMT2D), caused by dominant mutations in Glycl tRNA synthetase (GARS), present with progressive weakness,…”
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Paclitaxel-induced epithelial damage and ectopic MMP-13 expression promotes neurotoxicity in zebrafish by Lisse, Thomas S., Middleton, Leah J., Pellegrini, Adriana D., Martin, Paige B., Spaulding, Emily L., Lopes, Olivia, Brochu, Elizabeth A., Carter, Erin V., Waldron, Ashley, Rieger, Sandra

“…Paclitaxel is a microtubule-stabilizing chemotherapeutic agent that is widely used in cancer treatment and in a number of curative and palliative regimens…”
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Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes by Morelli, Kathryn H., Seburn, Kevin L., Schroeder, David G., Spaulding, Emily L., Dionne, Loiuse A., Cox, Gregory A., Burgess, Robert W.

“…Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause…”
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tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase by Zuko, Amila, Mallik, Moushami, Thompson, Robin, Spaulding, Emily L, Wienand, Anne R, Been, Marije, Tadenev, Abigail L D, van Bakel, Nick, Sijlmans, Céline, Santos, Leonardo A, Bussmann, Julia, Catinozzi, Marica, Das, Sarada, Kulshrestha, Divita, Burgess, Robert W, Ignatova, Zoya, Storkebaum, Erik

“…Heterozygous mutations in six transfer RNA (tRNA) synthetase genes cause Charcot-Marie-Tooth (CMT) peripheral neuropathy. CMT mutant tRNA synthetases inhibit…”
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A role for BYN-1/bystin in cellular uptake and clearance of residual bodies in the Caenorhabditis elegans germline by Min, Hyemin, Spaulding, Emily L, Sharp, Catherine S, Garg, Pankaj, Jeon, Esther, Miranda Portillo, Lyn S, Lind, Noah A, Updike, Dustin L

“…GLH/Vasa/DDX4 helicases are core germ-granule proteins that promote germline development and fertility. A yeast-two-hybrid screen using Caenorhabditis elegans…”
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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice by Jennings, Matthew J, Kagiava, Alexia, Vendredy, Leen, Spaulding, Emily L, Stavrou, Marina, Hathazi, Denisa, Grüneboom, Anika, De Winter, Vicky, Gess, Burkhard, Schara, Ulrike, Pogoryelova, Oksana, Lochmüller, Hanns, Borchers, Christoph H, Roos, Andreas, Burgess, Robert W, Timmerman, Vincent, Kleopa, Kleopas A, Horvath, Rita

“…Molecular markers scalable for clinical use are critical for the development of effective treatments and the design of clinical trials. Here, we identify…”
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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models by Morelli, Kathryn H, Griffin, Laurie B, Pyne, Nettie K, Wallace, Lindsay M, Fowler, Allison M, Oprescu, Stephanie N, Takase, Ryuichi, Wei, Na, Meyer-Schuman, Rebecca, Mellacheruvu, Dattatreya, Kitzman, Jacob O, Kocen, Samuel G, Hines, Timothy J, Spaulding, Emily L, Lupski, James R, Nesvizhskii, Alexey, Mancias, Pedro, Butler, Ian J, Yang, Xiang-Lei, Hou, Ya-Ming, Antonellis, Anthony, Harper, Scott Q, Burgess, Robert W

“…Gene therapy approaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated genes. However, the feasibility of these…”
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Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations by Sleigh, James N., Dawes, John M., West, Steven J., Wei, Na, Spaulding, Emily L., Gómez-Martín, Adriana, Zhang, Qian, Burgess, Robert W., Cader, M. Zameel, Talbot, Kevin, Yang, Xiang-Lei, Bennett, David L., Schiavo, Giampietro

“…Charcot–Marie–Tooth disease type 2D (CMT2D) is a peripheral nerve disorder caused by dominant, toxic, gain-of-function mutations in the widely expressed,…”
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