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COS7 GlyT2 variants associated with hyperekplexia
Multiplexed LC-MS/MS analysis of heterologous cells expressing a new GlyT2 variant found in an infantile patient diagnosed with hyperekplexia.
ORGANISM(S):
Chlorocebus sabaeus
2025-08-04
|
PXD061845
|
Pride
Co7 cells
Glyt2 variants
Cite
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Not available
S-EPMC3436555
|
biostudies-literature
Cite
A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes.
Not available
S-EPMC3260239
|
biostudies-literature
Cite
Novel mutations in
SLC6A5
with benign course in hyperekplexia.
Not available
S-EPMC6913151
|
biostudies-literature
Cite
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