215 related articles for article (PubMed ID: 29040524)
1. Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency.
Miyamoto H; Shimohata A; Abe M; Abe T; Mazaki E; Amano K; Suzuki T; Tatsukawa T; Itohara S; Sakimura K; Yamakawa K
Hum Mol Genet; 2017 Dec; 26(24):4961-4974. PubMed ID: 29040524
[TBL] [Abstract][Full Text] [Related]
2. Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability.
Dos Santos AB; Larsen SD; Guo L; Barbagallo P; Montalant A; Verhage M; Sørensen JB; Perrier JF
Cell Rep Med; 2023 Dec; 4(12):101308. PubMed ID: 38086378
[TBL] [Abstract][Full Text] [Related]
3. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
Kovacevic J; Maroteaux G; Schut D; Loos M; Dubey M; Pitsch J; Remmelink E; Koopmans B; Crowley J; Cornelisse LN; Sullivan PF; Schoch S; Toonen RF; Stiedl O; Verhage M
Brain; 2018 May; 141(5):1350-1374. PubMed ID: 29538625
[TBL] [Abstract][Full Text] [Related]
4. GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of
Kim JH; Chen W; Chao ES; Rivera A; Kaku HN; Jiang K; Lee D; Chen H; Vega JM; Chin TV; Jin K; Nguyen KT; Zou SS; Moin Z; Nguyen S; Xue 薛名杉 M
J Neurosci; 2024 Apr; 44(14):. PubMed ID: 38360746
[TBL] [Abstract][Full Text] [Related]
5.
Chen W; Cai ZL; Chao ES; Chen H; Longley CM; Hao S; Chao HT; Kim JH; Messier JE; Zoghbi HY; Tang J; Swann JW; Xue M
Elife; 2020 Feb; 9():. PubMed ID: 32073399
[TBL] [Abstract][Full Text] [Related]
6.
Tatsukawa T; Raveau M; Ogiwara I; Hattori S; Miyamoto H; Mazaki E; Itohara S; Miyakawa T; Montal M; Yamakawa K
Mol Autism; 2019; 10():15. PubMed ID: 30962870
[TBL] [Abstract][Full Text] [Related]
7. Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
Guiberson NGL; Black LS; Haller JE; Brukner A; Abramov D; Ahmad S; Xie YX; Sharma M; Burré J
Brain; 2024 Jun; 147(6):2185-2202. PubMed ID: 38242640
[TBL] [Abstract][Full Text] [Related]
8. Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome.
Orock A; Logan S; Deak F
Mol Cell Neurosci; 2018 Apr; 88():33-42. PubMed ID: 29217410
[TBL] [Abstract][Full Text] [Related]
9. Impaired cortico-striatal excitatory transmission triggers epilepsy.
Miyamoto H; Tatsukawa T; Shimohata A; Yamagata T; Suzuki T; Amano K; Mazaki E; Raveau M; Ogiwara I; Oba-Asaka A; Hensch TK; Itohara S; Sakimura K; Kobayashi K; Kobayashi K; Yamakawa K
Nat Commun; 2019 Apr; 10(1):1917. PubMed ID: 31015467
[TBL] [Abstract][Full Text] [Related]
10. Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.
Lammertse HCA; van Berkel AA; Iacomino M; Toonen RF; Striano P; Gambardella A; Verhage M; Zara F
Brain; 2020 Feb; 143(2):441-451. PubMed ID: 31855252
[TBL] [Abstract][Full Text] [Related]
11. STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D; Guiberson NGL; Burré J
J Neurochem; 2021 Apr; 157(2):165-178. PubMed ID: 32643187
[TBL] [Abstract][Full Text] [Related]
12.
Lanoue V; Chai YJ; Brouillet JZ; Weckhuysen S; Palmer EE; Collins BM; Meunier FA
Neurology; 2019 Jul; 93(3):114-123. PubMed ID: 31221716
[TBL] [Abstract][Full Text] [Related]
13. Munc18-1 haploinsufficiency results in enhanced anxiety-like behavior as determined by heart rate responses in mice.
Hager T; Maroteaux G; Pont Pd; Julsing J; van Vliet R; Stiedl O
Behav Brain Res; 2014 Mar; 260():44-52. PubMed ID: 24304718
[TBL] [Abstract][Full Text] [Related]
14. Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin-Lowry syndrome.
Morice E; Farley S; Poirier R; Dallerac G; Chagneau C; Pannetier S; Hanauer A; Davis S; Vaillend C; Laroche S
Neurobiol Dis; 2013 Oct; 58():156-68. PubMed ID: 23742761
[TBL] [Abstract][Full Text] [Related]
15. Altered Cortical Dynamics and Cognitive Function upon Haploinsufficiency of the Autism-Linked Excitatory Synaptic Suppressor MDGA2.
Connor SA; Ammendrup-Johnsen I; Chan AW; Kishimoto Y; Murayama C; Kurihara N; Tada A; Ge Y; Lu H; Yan R; LeDue JM; Matsumoto H; Kiyonari H; Kirino Y; Matsuzaki F; Suzuki T; Murphy TH; Wang YT; Yamamoto T; Craig AM
Neuron; 2016 Sep; 91(5):1052-1068. PubMed ID: 27608760
[TBL] [Abstract][Full Text] [Related]
16. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.
Yamashita S; Chiyonobu T; Yoshida M; Maeda H; Zuiki M; Kidowaki S; Isoda K; Morimoto M; Kato M; Saitsu H; Matsumoto N; Nakahata T; Saito MK; Hosoi H
Epilepsia; 2016 Apr; 57(4):e81-6. PubMed ID: 26918652
[TBL] [Abstract][Full Text] [Related]
17. STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics.
O'Brien S; Ng-Cordell E; ; Astle DE; Scerif G; Baker K
J Neurodev Disord; 2019 Aug; 11(1):17. PubMed ID: 31387522
[TBL] [Abstract][Full Text] [Related]
18. Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.
Öttl M; Toonen RF; Verhage M
Hum Mol Genet; 2024 May; 33(11):991-1000. PubMed ID: 38484778
[TBL] [Abstract][Full Text] [Related]
19. Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.
Ichise E; Chiyonobu T; Ishikawa M; Tanaka Y; Shibata M; Tozawa T; Taura Y; Yamashita S; Yoshida M; Morimoto M; Higurashi N; Yamamoto T; Okano H; Hirose S
Hum Mol Genet; 2021 Jun; 30(14):1337-1348. PubMed ID: 33961044
[TBL] [Abstract][Full Text] [Related]
20. De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A.
Banne E; Falik-Zaccai T; Brielle E; Kalfon L; Ladany H; Klinger D; Schneidman-Duhovny D; Linial M
Am J Med Genet B Neuropsychiatr Genet; 2020 Oct; 183(7):412-422. PubMed ID: 32815282
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
