mProX™ Human GLRA1 Stable Cell Line
- Product Category:
- Membrane Protein Stable Cell Lines
- Subcategory:
- Ion Channel Cell Lines
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Published Data
Fig.1 Genotype of shaky mice.
RT-PCR examination of GlyR α1 subunit mRNA concentrations in the brain stem (bs) and spinal cord (sc) of unsteady and wild-type mice. As a reference gene, β-actin cDNA was amplified to guarantee that all samples had the same amount of cDNA.
Ref: Schaefer, Natascha, et al. "Functional consequences of the postnatal switch from neonatal to mutant adult glycine receptor α1 subunits in the shaky mouse model of startle disease." Frontiers in molecular neuroscience 11 (2018): 167.
Pubmed: 29910711
DOI: 10.3389/fnmol.2018.00167
Research Highlights
The most frequent cause of HPX is GLRA1 defects, which can be inherited both autosomally recessively and autosomally dominantly. In the spectrum of startle syndromes, GLRA1 mutations can potentially result in milder symptoms, although the frequency is unknown and a strong genotype-phenotype association has not yet been established.
Ferraroli, Elisabetta, et al. "Hereditary hyperekplexia: a new family and a systematic review of GLRA1 gene-related phenotypes." Pediatric Neurology 132 (2022): 45-49.
Pubmed:
35636282
DOI:
10.1016/j.pediatrneurol.2022.05.002
A rare neurogenetic condition known as hyperekplexia (HPX) is typically characterized by fetal hypertonia, an increased startle reaction triggered by rapid external stimuli, and a brief period of overall stiffness. The main disease-causing gene is GLRA1, or glycine receptor alpha 1.
Zhan, Feixia, et al. "Excessive startle with novel GLRA1 mutations in 4 Chinese patients and a literature review of GLRA1-related hyperekplexia." Journal of Clinical Neurology (Seoul, Korea) 16.2 (2020): 230.
Pubmed:
32319239
DOI:
10.3988/jcn.2020.16.2.230
