Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating-Reference-Cited by-同舟云学术

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

Published:2016-08-21 Issue:10 Volume:37 Page:1051-1059
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Shen Xin-Ming¹,Okuno Tatsuya²,Milone Margherita¹,Otsuka Kenji²,Takahashi Koji³,Komaki Hirofumi³,Giles Elizabeth⁴,Ohno Kinji¹²,Engel Andrew G.¹

Affiliation:

1. Department of Neurology; Mayo Clinic; Rochester Minnesota

2. Division of Neurogenetics; Center for Neurological Diseases and Cancer; Nagoya University Graduate School of Medicine; Nagoya Japan

3. Department of Child Neurology; National Center Hospital of Neurology and Psychiatry; Tokyo Japan

4. Child Neurology Solutions; PLLC; St. Paul Minnesota

Funder

NIH

Ministry of Education, Culture, Sports, Science, and Technology

Ministry of Health, Labour and Welfare

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference35 articles.

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2. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome;Chaouch;J Neurol,2012

3. Fast events in single-channel currents activated by acetylcholine and its analogues at the frog muscle end-plate;Colquhoun;J Physiol,1985

4. Creighton TE. 1993 Physical Interactions that determine the properties of proteins Creighton TE Proteins: Structures and molecular properties New York W. H. Freeman 139 169

5. Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor;Di Castro;J Physiol,2007

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