These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 29217410)

  • 1. 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]  

  • 2. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
    Saitsu H; Kato M; Okada I; Orii KE; Higuchi T; Hoshino H; Kubota M; Arai H; Tagawa T; Kimura S; Sudo A; Miyama S; Takami Y; Watanabe T; Nishimura A; Nishiyama K; Miyake N; Wada T; Osaka H; Kondo N; Hayasaka K; Matsumoto N
    Epilepsia; 2010 Dec; 51(12):2397-405. PubMed ID: 20887364
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
    Saitsu H; Kato M; Mizuguchi T; Hamada K; Osaka H; Tohyama J; Uruno K; Kumada S; Nishiyama K; Nishimura A; Okada I; Yoshimura Y; Hirai S; Kumada T; Hayasaka K; Fukuda A; Ogata K; Matsumoto N
    Nat Genet; 2008 Jun; 40(6):782-8. PubMed ID: 18469812
    [TBL] [Abstract][Full Text] [Related]  

  • 4.
    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]  

  • 5. 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]  

  • 6. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
    Mignot C; Moutard ML; Trouillard O; Gourfinkel-An I; Jacquette A; Arveiler B; Morice-Picard F; Lacombe D; Chiron C; Ville D; Charles P; LeGuern E; Depienne C; Héron D
    Epilepsia; 2011 Oct; 52(10):1820-7. PubMed ID: 21762454
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Munc18-1 is a molecular chaperone for α-synuclein, controlling its self-replicating aggregation.
    Chai YJ; Sierecki E; Tomatis VM; Gormal RS; Giles N; Morrow IC; Xia D; Götz J; Parton RG; Collins BM; Gambin Y; Meunier FA
    J Cell Biol; 2016 Sep; 214(6):705-18. PubMed ID: 27597756
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.
    Ortega-Moreno L; Giráldez BG; Verdú A; García-Campos O; Sánchez-Martín G; Serratosa JM; Guerrero-López R
    Neurologia; 2016 Oct; 31(8):523-7. PubMed ID: 25631041
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Analysis of conditional heterozygous STXBP1 mutations in human neurons.
    Patzke C; Han Y; Covy J; Yi F; Maxeiner S; Wernig M; Südhof TC
    J Clin Invest; 2015 Sep; 125(9):3560-71. PubMed ID: 26280581
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Dysregulation of the SNARE-binding protein Munc18-1 impairs BDNF secretion and synaptic neurotransmission: a novel interventional target to protect the aging brain.
    Lee YI; Kim YG; Pyeon HJ; Ahn JC; Logan S; Orock A; Joo KM; Lőrincz A; Deák F
    Geroscience; 2019 Apr; 41(2):109-123. PubMed ID: 31041658
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.
    Yamamoto T; Shimojima K; Yano T; Ueda Y; Takayama R; Ikeda H; Imai K
    Brain Dev; 2016 Mar; 38(3):280-4. PubMed ID: 26384463
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tsc1 haploinsufficiency in Nkx2.1 cells upregulates hippocampal interneuron mTORC1 activity, impairs pyramidal cell synaptic inhibition, and alters contextual fear discrimination and spatial working memory in mice.
    Haji N; Riebe I; Aguilar-Valles A; Artinian J; Laplante I; Lacaille JC
    Mol Autism; 2020 May; 11(1):29. PubMed ID: 32375878
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.
    Otsuka M; Oguni H; Liang JS; Ikeda H; Imai K; Hirasawa K; Imai K; Tachikawa E; Shimojima K; Osawa M; Yamamoto T
    Epilepsia; 2010 Dec; 51(12):2449-52. PubMed ID: 21204804
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Tyrosine phosphorylation of Munc18-1 inhibits synaptic transmission by preventing SNARE assembly.
    Meijer M; Dörr B; Lammertse HC; Blithikioti C; van Weering JR; Toonen RF; Söllner TH; Verhage M
    EMBO J; 2018 Jan; 37(2):300-320. PubMed ID: 29150433
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy.
    Mastrangelo M; Peron A; Spaccini L; Novara F; Scelsa B; Introvini P; Raviglione F; Faiola S; Zuffardi O
    Epileptic Disord; 2013 Mar; 15(1):55-61. PubMed ID: 23531706
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.