glycine has been researched along with Hyperekplexia in 6 studies
Hyperekplexia: A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Glycine transporter 2 (GlyT2) mutations across the entire sequence have been shown to represent the presynaptic component of the neurological disease hyperekplexia." | 7.91 | The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. ( Hantschmann, R; Kasaragod, VB; Kitzenmaier, A; Polster, T; Schaefer, N; Schindelin, H; Villmann, C, 2019) |
| "Hyperekplexia is a rare sensorimotor syndrome characterized by pathological startle reflex in response to unexpected trivial stimuli for which there is no specific treatment." | 5.62 | Rescue of two trafficking-defective variants of the neuronal glycine transporter GlyT2 associated to hyperekplexia. ( Aragón, C; de la Rocha-Muñoz, A; López-Corcuera, B; Melgarejo, E, 2021) |
| "Loss-of-function mutations in proteins found at glycinergic synapses, most commonly in the α1 subunit of the glycine receptor (GlyR), cause the startle disease/hyperekplexia channelopathy in man." | 3.96 | The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents. ( Greiner, T; Jopp-Saile, L; Lape, R; O'Callaghan, BJ; Sivilotti, LG; Wu, Z, 2020) |
| "Glycine transporter 2 (GlyT2) mutations across the entire sequence have been shown to represent the presynaptic component of the neurological disease hyperekplexia." | 3.91 | The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. ( Hantschmann, R; Kasaragod, VB; Kitzenmaier, A; Polster, T; Schaefer, N; Schindelin, H; Villmann, C, 2019) |
| "Hyperekplexia or startle disease is a serious neurological condition affecting newborn children and usually involves dysfunctional glycinergic neurotransmission." | 3.83 | Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation. ( Caley, A; Gielen, MC; Harvey, RJ; Smart, TG; Wilkins, ME, 2016) |
| "Hyperekplexia is a rare sensorimotor syndrome characterized by pathological startle reflex in response to unexpected trivial stimuli for which there is no specific treatment." | 1.62 | Rescue of two trafficking-defective variants of the neuronal glycine transporter GlyT2 associated to hyperekplexia. ( Aragón, C; de la Rocha-Muñoz, A; López-Corcuera, B; Melgarejo, E, 2021) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 4 (66.67) | 24.3611 |
| 2020's | 2 (33.33) | 2.80 |
| Authors | Studies |
|---|---|
| Wu, Z | 1 |
| Lape, R | 2 |
| Jopp-Saile, L | 1 |
| O'Callaghan, BJ | 1 |
| Greiner, T | 2 |
| Sivilotti, LG | 2 |
| de la Rocha-Muñoz, A | 1 |
| Melgarejo, E | 1 |
| Aragón, C | 1 |
| López-Corcuera, B | 1 |
| Kitzenmaier, A | 1 |
| Schaefer, N | 1 |
| Kasaragod, VB | 1 |
| Polster, T | 1 |
| Hantschmann, R | 1 |
| Schindelin, H | 1 |
| Villmann, C | 1 |
| Wilkins, ME | 1 |
| Caley, A | 1 |
| Gielen, MC | 1 |
| Harvey, RJ | 1 |
| Smart, TG | 1 |
| Ehmsen, JT | 1 |
| Liu, Y | 1 |
| Wang, Y | 1 |
| Paladugu, N | 1 |
| Johnson, AE | 1 |
| Rothstein, JD | 1 |
| du Lac, S | 1 |
| Mattson, MP | 1 |
| Höke, A | 1 |
| Safar, F | 1 |
| Hurdiss, E | 1 |
| Erotocritou, M | 1 |
| Irvine, MW | 1 |
| Fang, G | 1 |
| Jane, D | 1 |
| Yu, R | 1 |
| Dämgen, MA | 1 |
| Biggin, PC | 1 |
6 other studies available for glycine and Hyperekplexia
| Article | Year |
|---|---|
The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents.
Topics: Glycine; Humans; Hyperekplexia; Mutation; Receptors, Glycine; Synaptic Transmission | 2020 |
Rescue of two trafficking-defective variants of the neuronal glycine transporter GlyT2 associated to hyperekplexia.
Topics: Animals; Arachidonic Acids; Cells, Cultured; Chlorocebus aethiops; COS Cells; Female; Genetic Variat | 2021 |
The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.
Topics: Glycine; Glycine Plasma Membrane Transport Proteins; Heterozygote; Homozygote; Humans; Hyperekplexia | 2019 |
Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation.
Topics: Desoxycorticosterone; Glycine; HEK293 Cells; Humans; Hyperekplexia; Models, Molecular; Mutation, Mis | 2016 |
The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons.
Topics: Amino Acid Transport System y+; Animals; Astrocytes; Autoantigens; Brain; Cells, Cultured; Female; G | 2016 |
The Startle Disease Mutation E103K Impairs Activation of Human Homomeric α1 Glycine Receptors by Disrupting an Intersubunit Salt Bridge across the Agonist Binding Site.
Topics: Amino Acid Sequence; Crystallography, X-Ray; Glycine; HEK293 Cells; Humans; Hyperekplexia; Models, M | 2017 |