| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Karrar Mahmood Shaker Al-Khfaji, Nika Kooshki Zamani, Ehsan Arefia. HSV-1 latency-associated transcript miR-H3 and miR-H4 target STXBP1 and GABBR2 genes. Journal of neurovirology. 2023-09-05. PMID:37668872. |
this study found that mirnas encoding lat might target the stxbp1 and gabbr2 genes, which are among the significant genes in the gabaergic pathway. |
2023-09-05 |
2023-09-07 |
Not clear |
| Alfredo Ramos-Miguel, Andrea A Jones, Vladislav A Petyuk, Vilte E Barakauskas, Alasdair M Barr, Sue E Leurgans, Philip L De Jager, Kaitlin B Casaletto, Julie A Schneider, David A Bennett, William G Hone. Proteomic identification of select protein variants of the SNARE interactome associated with cognitive reserve in a large community sample. Acta neuropathologica. vol 141. issue 5. 2021-11-16. PMID:33646358. |
specifically, greater abundance of stx1a (but not other syntaxins), syt12, full-length snap25, and the gabaergic stxbp1 variant were robustly associated with better cognitive performance. |
2021-11-16 |
2023-08-13 |
human |
| Eisuke Ichise, Tomohiro Chiyonobu, Mitsuru Ishikawa, Yasuyoshi Tanaka, Mami Shibata, Takenori Tozawa, Yoshihiro Taura, Satoshi Yamashita, Michiko Yoshida, Masafumi Morimoto, Norimichi Higurashi, Toshiyuki Yamamoto, Hideyuki Okano, Shinichi Hiros. Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons. Human molecular genetics. vol 30. issue 14. 2021-07-06. PMID:33961044. |
impaired neuronal activity and differential gene expression in stxbp1 encephalopathy patient ipsc-derived gabaergic neurons. |
2021-07-06 |
2023-08-13 |
Not clear |
| Jovana Kovacevic, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse, Patrick F Sullivan, Susanne Schoch, Ruud F Toonen, Oliver Stiedl, Matthijs Verhag. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. Brain : a journal of neurology. vol 141. issue 5. 2019-07-08. PMID:29538625. |
mice heterozygous for stxbp1 in gabaergic neurons only, showed impaired viability, 50% died within 2-3 weeks, and the rest showed stronger epileptic activity. |
2019-07-08 |
2023-08-13 |
mouse |
| Jing-Qiong Kan. Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies. Epilepsy research. vol 137. 2018-06-11. PMID:28865303. |
hence, the review will focus on the mutations that impair gabaergic signaling and selectively discuss the newly identified stxbp1, prrt2, and dnm1 in addition to those long-established epilepsy ion channel genes that also impair gabaergic signaling like scn1a and gaba |
2018-06-11 |
2023-08-13 |
Not clear |
| Romina Romaniello, Francesco Saettini, Elena Panzeri, Filippo Arrigoni, Maria T Bassi, Renato Borgatt. A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. Neuroreport. vol 26. issue 5. 2015-11-16. PMID:25714420. |
the stxbp1 gene encodes the syntaxin-binding protein 1, a neuron-specific protein involved in synaptic vesicle release at both glutaminergic and gabaergic synapses. |
2015-11-16 |
2023-08-13 |
Not clear |