Zobrazeno 1 - 10
of 31
pro vyhledávání: '"William W. Motley"'
Autor:
Heather S. Hain, Rahul Pandey, Marina Bakay, Bryan P. Strenkowski, Danielle Harrington, Micah Romer, William W. Motley, Jian Li, Eunjoo Lancaster, Lindsay Roth, Judith B. Grinspan, Steven S. Scherer, Hakon Hakonarson
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract CLEC16A has been shown to play a role in autophagy/mitophagy processes. Additionally, genetic variants in CLEC16A have been implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout, Clec16a ΔUBC mice, to inv
Externí odkaz:
https://doaj.org/article/9b104a7aa9a7427988082d3423e2cc80
Autor:
Melanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, Jennifer N. Rauch, Rocio Bengoechea, William W. Motley, E. F. Elsiena Kuiper, Melania Minoia, Gabriel V. Furtado, Maria A. W. H. van Waarde, Shawn J. Bird, Adriana Rebelo, Stephan Zuchner, Peter Pytel, Steven S. Scherer, Federica F. Morelli, Serena Carra, Conrad C. Weihl, Steven Bergink, Jason E. Gestwicki, Harm H. Kampinga
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
BAG3 is a Hsp70 co-chaperone that is highly expressed in muscles. Here the authors show that several myofibrillar myopathy causing BAG3 mutations are not impaired in Hsp70 binding, but rather impair the ADP-ATP exchange step of the Hsp70 cycle, causi
Externí odkaz:
https://doaj.org/article/ddf05b7beeda41dab42d91cc0f57bb70
Autor:
Biljana Ermanoska, William W. Motley, Ricardo Leitão-Gonçalves, Bob Asselbergh, LaTasha H. Lee, Peter De Rijk, Kristel Sleegers, Tinne Ooms, Tanja A. Godenschwege, Vincent Timmerman, Kenneth H. Fischbeck, Albena Jordanova
Publikováno v:
Neurobiology of Disease, Vol 68, Iss , Pp 180-189 (2014)
Aminoacyl-tRNA synthetases are ubiquitously expressed proteins that charge tRNAs with their cognate amino acids. By ensuring the fidelity of protein synthesis, these enzymes are essential for the viability of every cell. Yet, mutations in six tRNA sy
Externí odkaz:
https://doaj.org/article/1c8ff5a5c8544ffba3587694d672656c
Publikováno v:
SAGE Open Medicine, Vol 5 (2017)
Background: Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse. Materials and Methods: Retrospective review of medical charts of patients with Do
Externí odkaz:
https://doaj.org/article/5efdbca7495d4d849948d8bc62e00168
Autor:
Eunjoo Lancaster, Marina Bakay, Danielle Harrington, Hakon Hakonarson, Rahul Pandey, William W. Motley, Bryan Strenkowski, Lindsay M Roth, Jian Li, Micah Romer, Judith B. Grinspan, Steven S. Scherer, Heather S. Hain
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Scientific Reports
Scientific Reports
CLEC16A has been shown to play a role in autophagy/mitophagy processes. Additionally, genetic variants in CLEC16A have been implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout, Clec16aΔUBC mice, to investigate t
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo 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 examination.MethodsWhole-exome sequencing of genomic DNA and analysis for recessively inh
Publikováno v:
Journal of the Peripheral Nervous System. 23:36-39
Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2," and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, fol
Autor:
Muriel T Davisson, Roderick T Bronson, Abigail L D Tadenev, William W Motley, Arjun Krishnaswamy, Kevin L Seburn, Robert W Burgess
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e29538 (2011)
Mutations in the gene encoding the immunoglobulin-superfamily member cell adhesion molecule contactin1 (CNTN1) cause lethal congenital myopathy in human patients and neurodevelopmental phenotypes in knockout mice. Whether the mutant mice provide an a
Externí odkaz:
https://doaj.org/article/a183325e00574c9e9215b7329df1512a
Autor:
Ali Poyan Mehr, William W. Motley, Sarah E. Decker, John N. Forrest, Connor J. Telles, Raymond A. Frizzell, Alexander W. Peters
Publikováno v:
American Journal of Physiology-Cell Physiology. 311:C884-C894
In the shark rectal gland (SRG), apical chloride secretion through CFTR channels is electrically coupled to a basolateral K+ conductance whose type and molecular identity are unknown. We performed studies in the perfused SRG with 17 K+ channel inhibi
Autor:
Charlotte J. Sumner, Marie Helene Marion, Bryan J. Traynor, Emma L. Baple, Rachelle Gaudet, William H. Aisenberg, Janel O. Johnson, Aamir Zuberi, Katy E.S. Barwick, Pamela C. Saavedra-Rivera, Katherine L. Marshall, Hamid Modarres, Andrew H. Crosby, Mohamed H. Farah, Lucy A. Hicklin, Cathleen M. Lutz, Jeremy M. Sullivan, Jennifer S. Huh, William W. Motley, Meriel M. McEntagart, Lingling Kong
Publikováno v:
J Clin Invest
Notch signaling is a highly conserved intercellular pathway with tightly regulated and pleiotropic roles in normal tissue development and homeostasis. Dysregulated Notch signaling has also been implicated in human disease, including multiple forms of