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COS7 GlyT2 variants associated with hyperekplexia

ABSTRACT: Multiplexed LC-MS/MS analysis of heterologous cells expressing a new GlyT2 variant found in an infantile patient diagnosed with hyperekplexia.

INSTRUMENT(S):

ORGANISM(S): Chlorocebus Sabaeus

TISSUE(S): Fibroblast, Kidney

DISEASE(S): Hyperekplexia

SUBMITTER: Emilio Camafeita

LAB HEAD: Jesús Vázquez

PROVIDER: PXD061845 | Pride | 2025-08-04

REPOSITORIES: Pride

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			Action	DRS
	Cos-7.msf	Msf
	Cos-7.raw	Raw
	Cos-7_ii.raw	Raw

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Publications

A New GlyT2 Variant Associated with Hyperekplexia.

Sarmiento-Jiménez Jorge J Felipe Raquel R Núñez Enrique E Ferrando-Muñoz Alejandro A Benito-Muñoz Cristina C Gago Federico F Vázquez Jesús J Camafeita Emilio E Clement Emma E Wilson Brian B López-Corcuera Beatriz B

International journal of molecular sciences 20250714 14

Hyperekplexia (OMIM 149400), a sensorimotor syndrome of perinatal clinical relevance, causes newborns to display an energic startle reflex in response to certain trivial stimuli. This condition can be lethal due to apnea episodes. The disease is caused by a blockade of glycinergic neurotransmission. Glycinergic interneurons preserve their identity by the activity of the surface glycine transporter GlyT2, which supplies glycine to presynaptic terminals to maintain glycine content in synaptic vesi ...[more]

PMID: 40725001

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