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| 1 | Vivi Li | + 427 word(s) | 427 | 2020-12-15 07:54:07 |
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Li, V. GABRA1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5611 (accessed on 21 September 2026).
Li V. GABRA1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5611. Accessed September 21, 2026.
Li, Vivi. "GABRA1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5611 (accessed September 21, 2026).
Li, V. (2020, December 25). GABRA1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5611
Li, Vivi. "GABRA1 Gene." Encyclopedia. Web. 25 December, 2020.
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Gamma-aminobutyric acid type A receptor alpha1 subunit
genes
References
- Ben-Ari Y, Khalilov I, Kahle KT, Cherubini E. The GABA excitatory/inhibitoryshift in brain maturation and neurological disorders. Neuroscientist. 2012Oct;18(5):467-86.
- Bradley CA, Taghibiglou C, Collingridge GL, Wang YT. Mechanisms involved inthe reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. J Biol Chem. 2008 Aug8;283(32):22043-50. doi: 10.1074/jbc.M801708200.
- Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM,Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA. Mutation of GABRA1 in anautosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002Jun;31(2):184-9.
- Ding L, Feng HJ, Macdonald RL, Botzolakis EJ, Hu N, Gallagher MJ. GABA(A)receptor alpha1 subunit mutation A322D associated with autosomal dominantjuvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. J Biol Chem. 2010 Aug 20;285(34):26390-405. doi:10.1074/jbc.M110.142299.
- Gallagher MJ, Ding L, Maheshwari A, Macdonald RL. The GABAA receptor alpha1subunit epilepsy mutation A322D inhibits transmembrane helix formation and causesproteasomal degradation. Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):12999-3004.
- Kang JQ, Shen W, Macdonald RL. Two molecular pathways (NMD and ERAD)contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X. J Neurosci. 2009 Mar 4;29(9):2833-44. doi:10.1523/JNEUROSCI.4512-08.2009.
- Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunitcausing juvenile myoclonic epilepsy. Eur J Neurosci. 2005 Jul;22(1):10-20.
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