Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kathy E. Miers"'
Autor:
Preeti Bais, Kirk Beebe, Kathryn H. Morelli, Meagan E. Currie, Sara N. Norberg, Alexei V. Evsikov, Kathy E. Miers, Kevin L. Seburn, Velina Guergueltcheva, Ivo Kremensky, Albena Jordanova, Carol J. Bult, Robert W. Burgess
Publikováno v:
Biology Open, Vol 5, Iss 7, Pp 908-920 (2016)
Charcot–Marie–Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration in the peripheral nervous system. Charcot–Marie–Tooth type 2D neuropathy (CMT2D) is caused by dominant
Externí odkaz:
https://doaj.org/article/f50e94aa3a7b4091bc4b66563eca9a9c
Autor:
Timothy J. Hines, Abigail L. D. Tadenev, Museer A. Lone, Courtney L. Hatton, Inseyah Bagasrawala, Morgane G. Stum, Kathy E. Miers, Thorsten Hornemann, Robert W. Burgess
Publikováno v:
Journal of Anatomy. 241:1169-1185
Animal models of neurodegenerative diseases such as inherited peripheral neuropathies sometimes accurately recreate the pathophysiology of the human disease, and sometimes accurately recreate the genetic perturbations found in patients. Ideally, mode
Autor:
Kathleen A. Silva, Simon W M John, Laura G. Reinholdt, Morgane Stum, Abigail L. D. Tadenev, Pak P. Poon, Robert W. Burgess, Christopher R. McMaster, Coleen Kane, Carolyn Ann Robinson, Kevin L. Seburn, Kathy E. Miers, John P. Sundberg, Paul F. Cliften
Publikováno v:
Genetics
The final step in proline biosynthesis is catalyzed by three pyrroline-5-carboxylate reductases, PYCR1, PYCR2, and PYCR3, which convert pyrroline-5-carboxylate (P5C) to proline. Mutations in human PYCR1 and ALDH18A1 (P5C Synthetase) cause Cutis Laxa
Publikováno v:
PLoS ONE, Vol 7, Iss 1, p e30217 (2012)
Glycine is the major inhibitory neurotransmitter in the spinal cord and some brain regions. The presynaptic glycine transporter, GlyT2, is required for sustained glycinergic transmission through presynaptic reuptake and recycling of glycine. Mutation
Externí odkaz:
https://doaj.org/article/ecfcd33ae800424d8c775cac30f942d3
Autor:
William W Motley, Kevin L Seburn, Mir Hussain Nawaz, Kathy E Miers, Jun Cheng, Anthony Antonellis, Eric D Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H Fischbeck, Robert W Burgess
Publikováno v:
PLoS Genetics, Vol 7, Iss 12, p e1002399 (2011)
Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). In addition to GARS, mutations in three other tRNA synthetase genes cause similar neur
Externí odkaz:
https://doaj.org/article/3a30937c11844b639965d96dddbb760a
Autor:
Carol J. Bult, Robert W. Burgess, Kevin L. Seburn, Kathy E. Miers, Alexei V. Evsikov, Kathryn H. Morelli, Sara N. Norberg, Meagan E. Currie, Velina Guergueltcheva, Kirk Beebe, Ivo Kremensky, Albena Jordanova, Preeti Bais
Publikováno v:
Biology Open (BiO)
Biology Open, Vol 5, Iss 7, Pp 908-920 (2016)
Biology Open
Biology Open, Vol 5, Iss 7, Pp 908-920 (2016)
Biology Open
Charcot–Marie–Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration in the peripheral nervous system. Charcot–Marie–Tooth type 2D neuropathy (CMT2D) is caused by dominant
Autor:
Robert W. Burgess, Kenneth H. Fischbeck, Kevin Talbot, Eric D. Green, William W. Motley, Xiang-Lei Yang, Kathy E. Miers, Mir Hussain Nawaz, Jun Cheng, Anthony Antonellis, Kevin L. Seburn
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 7, Iss 12, p e1002399 (2011)
PLoS Genetics, Vol 7, Iss 12, p e1002399 (2011)
Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). In addition to GARS, mutations in three other tRNA synthetase genes cause similar neur
Autor:
Kathy E. Miers, Anthony Antonellis, Kevin L. Seburn, Heather M. McLaughlin, Erica L. Kleinbrink, Susan L. Ackerman, Morgane Stum, Robert W. Burgess
Publikováno v:
Molecular and cellular neurosciences. 46(2)
Mutations in glycyl-, tyrosyl-, and alanyl-tRNA synthetases (GARS, YARS and AARS respectively) cause autosomal dominant Charcot–Marie–Tooth disease, and mutations in Gars cause a similar peripheral neuropathy in mice. Aminoacyl-tRNA synthetases (