Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.

Shields, Mallory C; Bowers, Matthew R; Fulcer, McKenzie M; Bollig, Madelyn K; Rock, Patrick J; Sutton, Bryan R; Vrailas-Mortimer, Alysia D; Lochmüller, Hanns; Whittaker, Roger G; Horvath, Rita; Reist, Noreen E

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Authors

Shields, Mallory C

Bowers, Matthew R

Fulcer, McKenzie M

Bollig, Madelyn K

Rock, Patrick J

Sutton, Bryan R

Vrailas-Mortimer, Alysia D

Publication Date

2017-01

Journal Title

PloS one

ISSN

1932-6203

Volume

Issue

Pages

e0184817

Language

eng

Type

Article

This Version

VoR

Physical Medium

Electronic-eCollection

Metadata

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Citation

Shields, M. C., Bowers, M. R., Fulcer, M. M., Bollig, M. K., Rock, P. J., Sutton, B. R., Vrailas-Mortimer, A. D., et al. (2017). Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.. PloS one, 12 (9), e0184817. https://doi.org/10.1371/journal.pone.0184817

Keywords

Synapses, Animals, Humans, Rats, Drosophila melanogaster, Myasthenic Syndromes, Congenital, Calcium, Amino Acid Sequence, Protein Conformation, Longevity, Muscle Fatigue, Locomotion, Heterozygote, Mutation, Models, Biological, Models, Molecular, Computer Simulation, Female, Male, Synaptotagmins

Sponsorship

EC FP7 CP (305121)

Wellcome Trust (109915_A_15_Z)

Identifiers

External DOI: https://doi.org/10.1371/journal.pone.0184817

This record's URL: https://www.repository.cam.ac.uk/handle/1810/290337

Rights

Attribution 4.0 International

Licence URL: https://creativecommons.org/licenses/by/4.0/

Except where otherwise noted, this item's licence is described as Attribution 4.0 International