scholarly journals The K276E Startle Disease Mutation in the Glycine Receptor: Effects on Channel Gating

2011 ◽  
Vol 100 (3) ◽  
pp. 433a
Author(s):  
Mirko Moroni ◽  
Remigijus Lape ◽  
David Colquhoun ◽  
Andrew J.R. Plested ◽  
Lucia G. Sivilotti
Keyword(s):  
Glycine Receptor ◽  
Channel Gating ◽  
Disease Mutation ◽  
Startle Disease

The Startle Disease Mutation Q266H, in the Second Transmembrane Domain of the Human Glycine Receptor, Impairs Channel Gating

1999 ◽  
Vol 55 (2) ◽  
pp. 386-395 ◽  
Author(s):  
Andrew J. Moorhouse ◽  
Patrice Jacques ◽  
Peter H. Barry ◽  
Peter R. Schofield
Keyword(s):  
Transmembrane Domain ◽  
Glycine Receptor ◽  
Channel Gating ◽  
Disease Mutation ◽  
Startle Disease

scholarly journals Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor.

1994 ◽  
Vol 269 (29) ◽  
pp. 18739-18742
Author(s):  
S. Rajendra ◽  
J.W. Lynch ◽  
K.D. Pierce ◽  
C.R. French ◽  
P.H. Barry ◽  
...  
Keyword(s):  
Glycine Receptor ◽  
Startle Disease ◽  
Disease Mutations

scholarly journals A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition

2020 ◽  
Vol 40 (25) ◽  
pp. 4954-4969 ◽  
Author(s):  
Georg Langlhofer ◽  
Natascha Schaefer ◽  
Hans M. Maric ◽  
Angelo Keramidas ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Glycine Receptor ◽  
Startle Disease ◽  
Glycinergic Inhibition

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

2012 ◽  
Vol 393 (4) ◽  
pp. 283-289 ◽  
Author(s):  
Victoria M. James ◽  
Jennifer L. Gill ◽  
Maya Topf ◽  
Robert J. Harvey
Keyword(s):  
Startle Response ◽  
Molecular Mechanisms ◽  
Glycine Receptor ◽  
Welfare Impacts ◽  
Startle Disease ◽  
Glycine Transporter ◽  
Tactile Stimuli ◽  
Genes Encoding ◽  
Muscle Hypertonia ◽  
Α1 Subunit

Abstract Startle disease affects newborn children and involves an exaggerated startle response and muscle hypertonia in response to acoustic or tactile stimuli. The primary cause of startle disease is defective inhibitory glycinergic transmission due to mutations in the postsynaptic glycine receptor (GlyR) α1 subunit gene (GLRA1). However, mutations have also been discovered in the genes encoding the GlyR β subunit (GLRB) and the presynaptic glycine transporter GlyT2 (SLC6A5). GlyT2 mutations have also been detected in Belgian Blue cattle and Irish Wolfhounds, where they have significant economic and animal welfare impacts.

scholarly journals Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

2013 ◽  
Vol 52 ◽  
pp. 137-149 ◽  
Author(s):  
Victoria M. James ◽  
Anna Bode ◽  
Seo-Kyung Chung ◽  
Jennifer L. Gill ◽  
Maartje Nielsen ◽  
...  
Keyword(s):  
Glycine Receptor ◽  
Missense Mutations ◽  
Β Subunit ◽  
Subunit Gene ◽  
Startle Disease

scholarly journals Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor β-subunit: an animal model of startle disease

2000 ◽  
Vol 12 (1) ◽  
pp. 27-32 ◽  
Author(s):  
Lore Becker ◽  
Bettina Hartenstein ◽  
Johannes Schenkel ◽  
Jochen Kuhse ◽  
Heinrich Betz ◽  
...  
Keyword(s):  
Animal Model ◽  
Glycine Receptor ◽  
Β Subunit ◽  
Startle Disease ◽  
Low Levels

A case of startle disease with glycine receptor autoantibodies

2017 ◽  
Vol 381 ◽  
pp. 653
Author(s):  
K. Miwako ◽  
S. HIroshi ◽  
F. Yoshihisa ◽  
F. Natsumi ◽  
N. Ryo ◽  
...  
Keyword(s):  
Glycine Receptor ◽  
Startle Disease
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