Search Results - "Motley, William W."

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels by Motley, William W, Seburn, Kevin L, Nawaz, Mir Hussain, Miers, Kathy E, Cheng, Jun, Antonellis, Anthony, Green, Eric D, Talbot, Kevin, Yang, Xiang-Lei, Fischbeck, Kenneth H, Burgess, Robert W

“…Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene…”
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Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks by Meister-Broekema, Melanie, Freilich, Rebecca, Jagadeesan, Chandhuru, Rauch, Jennifer N., Bengoechea, Rocio, Motley, William W., Kuiper, E. F. Elsiena, Minoia, Melania, Furtado, Gabriel V., van Waarde, Maria A. W. H., Bird, Shawn J., Rebelo, Adriana, Zuchner, Stephan, Pytel, Peter, Scherer, Steven S., Morelli, Federica F., Carra, Serena, Weihl, Conrad C., Bergink, Steven, Gestwicki, Jason E., Kampinga, Harm H.

“…BAG3 is a multi-domain hub that connects two classes of chaperones, small heat shock proteins (sHSPs) via two isoleucine-proline-valine (IPV) motifs and Hsp70…”
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Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice by KWON, Deborah Y, MOTLEY, William W, FISCHBECK, Kenneth H, BURNETT, Barrington G

“…Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by reduced levels of the survival motor neuron (SMN) protein. Here we show that the proteasome…”
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Inducible knockout of Clec16a in mice results in sensory neurodegeneration by Hain, Heather S., Pandey, Rahul, Bakay, Marina, Strenkowski, Bryan P., Harrington, Danielle, Romer, Micah, Motley, William W., Li, Jian, Lancaster, Eunjoo, Roth, Lindsay, Grinspan, Judith B., Scherer, Steven S., Hakonarson, Hakon

“…CLEC16A has been shown to play a role in autophagy/mitophagy processes. Additionally, genetic variants in CLEC16A have been implicated in multiple autoimmune…”
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Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy by Sullivan, Jeremy M, Motley, William W, Johnson, Janel O, Aisenberg, William H, Marshall, Katherine L, Barwick, Katy Es, Kong, Lingling, Huh, Jennifer S, Saavedra-Rivera, Pamela C, McEntagart, Meriel M, Marion, Marie-Helene, Hicklin, Lucy A, Modarres, Hamid, Baple, Emma L, Farah, Mohamed H, Zuberi, Aamir R, Lutz, Cathleen M, Gaudet, Rachelle, Traynor, Bryan J, Crosby, Andrew H, Sumner, Charlotte J

“…Notch signaling is a highly conserved intercellular pathway with tightly regulated and pleiotropic roles in normal tissue development and homeostasis…”
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Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy by Motley, William W., Züchner, Stephan, Scherer, Steven S.

“…To determine the genetic cause of axonal Charcot-Marie-Tooth disease in a small family with 2 affected siblings, one of whom had cerebellar features on…”
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CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila by Ermanoska, Biljana, Motley, William W, Leitão-Gonçalves, Ricardo, Asselbergh, Bob, Lee, LaTasha H, De Rijk, Peter, Sleegers, Kristel, Ooms, Tinne, Godenschwege, Tanja A, Timmerman, Vincent, Fischbeck, Kenneth H, Jordanova, Albena

“…Abstract Aminoacyl-tRNA synthetases are ubiquitously expressed proteins that charge tRNAs with their cognate amino acids. By ensuring the fidelity of protein…”
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Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over by Ward, Jeremy O, Reinholdt, Laura G, Motley, William W, Niswander, Lisa M, Deacon, Dekker C, Griffin, Laurie B, Langlais, Kristofor K, Backus, Vickie L, Schimenti, Kerry J, O'Brien, Marilyn J, Eppig, John J, Schimenti, John C

“…Crossing over during meiotic prophase I is required for sexual reproduction in mice and contributes to genome-wide genetic diversity. Here we report on the…”
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Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts by Santoro, Stephanie L, Atoum, Dema, Hufnagel, Robert B, Motley, William W

“…Background: Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes…”
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A spontaneous mutation in contactin 1 in the mouse by Davisson, Muriel T, Bronson, Roderick T, Tadenev, Abigail L D, Motley, William W, Krishnaswamy, Arjun, Seburn, Kevin L, Burgess, Robert W

“…Mutations in the gene encoding the immunoglobulin-superfamily member cell adhesion molecule contactin1 (CNTN1) cause lethal congenital myopathy in human…”
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GARS axonopathy: not every neuron's cup of tRNA by Motley, William W, Talbot, Kevin, Fischbeck, Kenneth H

“…Charcot–Marie–Tooth disease type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl–tRNA synthetase (GARS). The mutations are distributed…”
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Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology by Grice, Stuart J, Sleigh, James N, Motley, William W, Liu, Ji-Long, Burgess, Robert W, Talbot, Kevin, Cader, M Zameel

“…Charcot-Marie-Tooth (CMT) neuropathies are collectively the most common hereditary neurological condition and a major health burden for society. Dominant…”
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Eikenella corrodens as a causative agent for neonatal conjunctivitis by Chhabra, Manpreet S., MD, Motley, William W., MD, MS, Mortensen, Joel E., PhD

“…Ophthalmia neonatorum is the most common eye infection in the first month of life. The etiologies have been attributed to chemical, bacterial, and viral…”
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Surgical management of infantile cataracts in dystrophic epidermolysis bullosa by Motley, William W., MD, MS, Vanderveen, Deborah K., MD, West, Constance E., MD

“…Epidermolysis bullosa describes a group of mechanobullous skin diseases that result in the formation of blisters with little or no trauma. In dystrophic…”
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De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease by Motley, William W, Palaima, Paulius, Yum, Sabrina W, Gonzalez, Michael A, Tao, Feifei, Wanschitz, Julia V, Strickland, Alleene V, Löscher, Wolfgang N, De Vriendt, Els, Koppi, Stefan, Medne, Livija, Janecke, Andreas R, Jordanova, Albena, Zuchner, Stephan, Scherer, Steven S

“…We performed whole exome sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the…”
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A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family by Dankwa, Lois, Richardson, Jessica, Motley, William W., Scavina, Mena, Courel, Steve, Bardakjian, Tanya, Züchner, Stephan, Scherer, Steven S.

“…•We describe a previously unreported p.Arg95Gly mutation in MFN2.•Variable clinical severity is seen across four generations.•Segregation analysis requires…”
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A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family by Dankwa, Lois, Richardson, Jessica, Motley, William W., Züchner, Stephan, Scherer, Steven S.

“…Dominant mutations in MFN2 cause a range of phenotypes, including severe, early‐onset axonal neuropathy, “classical CMT2,” and late‐onset axonal neuropathies…”
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A novel AARS mutation in a family with dominant myeloneuropathy by Motley, William W, Griffin, Laurie B, Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S

“…OBJECTIVE:To determine the genetic cause of neurodegeneration in a family with myeloneuropathy. METHODS:We studied 5 siblings in a family with a mild,…”
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Functional and molecular identification of a TASK-1 potassium channel regulating chloride secretion through CFTR channels in the shark rectal gland: implications for cystic fibrosis by Telles, Connor J, Decker, Sarah E, Motley, William W, Peters, Alexander W, Mehr, Ali Poyan, Frizzell, Raymond A, Forrest, Jr, John N

“…In the shark rectal gland (SRG), apical chloride secretion through CFTR channels is electrically coupled to a basolateral K conductance whose type and…”
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Pseudomonas aeruginosa endogenous endophthalmitis with choroidal abscess in a patient with cystic fibrosis by Motley, 3rd, William W, Augsburger, James J, Hutchins, Robert K, Schneider, Susan, Boat, Thomas F

“…To describe the clinical presentation, management, and outcome of a case of endogenous intraocular infection due to Pseudomonas aeruginosa in a patient with…”
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