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See Gene information for munc18 stxbp1

munc18 in Strongylocentrotus purpuratus1 Gene record

stxbp1 in Homo sapiensMus musculusRattus norvegicusAll 204 Gene records

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Items: 1 to 20 of 207

1.

SNARE zippering requires activation by SNARE-like peptides in Sec1/Munc18 proteins.

Yu H, Shen C, Liu Y, Menasche BL, Ouyang Y, Stowell MHB, Shen J.

Proc Natl Acad Sci U S A. 2018 Sep 4;115(36):E8421-E8429. doi: 10.1073/pnas.1802645115. Epub 2018 Aug 20.

PMID:
30127032
2.

The adult motor phenotype of Dravet syndrome is associated with mutation of the STXBP1 gene and responds well to cannabidiol treatment.

Álvarez Bravo G, Yusta Izquierdo A.

Seizure. 2018 Aug;60:68-70. doi: 10.1016/j.seizure.2018.06.010. Epub 2018 Jun 13.

PMID:
29929108
3.

Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes.

Aravindhan A, Shah K, Pak J, Veerapandiyan A.

Epileptic Disord. 2018 Jun 1;20(3):214-218. doi: 10.1684/epd.2018.0969.

PMID:
29897043
4.

Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review.

Liu S, Wang L, Cai XT, Zhou H, Yu D, Wang Z.

Medicine (Baltimore). 2018 May;97(18):e0663. doi: 10.1097/MD.0000000000010663. Review.

5.

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.

Lopez JA, Noori T, Minson A, Li Jovanoska L, Thia K, Hildebrand MS, Akhlaghi H, Darcy PK, Kershaw MH, Brown NJ, Grigg A, Trapani JA, Voskoboinik I.

Front Immunol. 2018 Mar 15;9:529. doi: 10.3389/fimmu.2018.00529. eCollection 2018.

6.

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.

Yuge K, Iwama K, Yonee C, Matsufuji M, Sano N, Saikusa T, Yae Y, Yamashita Y, Mizuguchi T, Matsumoto N, Matsuishi T.

Brain Dev. 2018 Jun;40(6):493-497. doi: 10.1016/j.braindev.2018.02.002. Epub 2018 Mar 12.

PMID:
29544889
7.

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 1;141(5):1350-1374. doi: 10.1093/brain/awy046.

8.

Identification of miR-9 as a negative factor of insulin secretion from beta cells.

Hu D, Wang Y, Zhang H, Kong D.

J Physiol Biochem. 2018 May;74(2):291-299. doi: 10.1007/s13105-018-0615-3. Epub 2018 Feb 22.

PMID:
29470815
9.

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.

Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW.

G3 (Bethesda). 2018 Mar 28;8(4):1115-1118. doi: 10.1534/g3.118.200080.

10.

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. doi: 10.1016/j.mcn.2017.12.002. Epub 2017 Dec 5.

PMID:
29217410
11.

MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development.

Hamada N, Iwamoto I, Tabata H, Nagata KI.

Acta Neuropathol Commun. 2017 Nov 30;5(1):92. doi: 10.1186/s40478-017-0498-5.

12.

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

Zhu X, Padmanabhan R, Copeland B, Bridgers J, Ren Z, Kamalakaran S, O'Driscoll-Collins A, Berkovic SF, Scheffer IE, Poduri A, Mei D, Guerrini R, Lowenstein DH, Allen AS, Heinzen EL, Goldstein DB.

PLoS Genet. 2017 Nov 29;13(11):e1007104. doi: 10.1371/journal.pgen.1007104. eCollection 2017 Nov.

13.

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 17;37(2):300-320. doi: 10.15252/embj.201796484. Epub 2017 Nov 17.

14.

MiR-335 overexpression impairs insulin secretion through defective priming of insulin vesicles.

Salunkhe VA, Ofori JK, Gandasi NR, Salö SA, Hansson S, Andersson ME, Wendt A, Barg S, Esguerra JLS, Eliasson L.

Physiol Rep. 2017 Nov;5(21). pii: e13493. doi: 10.14814/phy2.13493.

15.

A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.

Devaux J, Dhifallah S, De Maria M, Stuart-Lopez G, Becq H, Milh M, Molinari F, Aniksztejn L.

Epilepsia. 2017 Dec;58(12):2073-2084. doi: 10.1111/epi.13927. Epub 2017 Oct 25.

PMID:
29067685
16.

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 15;26(24):4961-4974. doi: 10.1093/hmg/ddx379.

PMID:
29040524
17.

STXBP1 as a therapeutic target for epileptic encephalopathy.

Stamberger H, Weckhuysen S, De Jonghe P.

Expert Opin Ther Targets. 2017 Nov;21(11):1027-1036. doi: 10.1080/14728222.2017.1386175. Epub 2017 Oct 5. Review.

PMID:
28971703
18.

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.

Suri M, Evers JMG, Laskowski RA, O'Brien S, Baker K, Clayton-Smith J, Dabir T, Josifova D, Joss S, Kerr B, Kraus A, McEntagart M, Morton J, Smith A, Splitt M, Thornton JM; DDD Study, Wright CF.

Mol Genet Genomic Med. 2017 Jun 20;5(5):495-507. doi: 10.1002/mgg3.304. eCollection 2017 Sep.

19.

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

Shimojima K, Okamoto N, Goel H, Ondo Y, Yamamoto T.

Eur J Med Genet. 2017 Dec;60(12):650-654. doi: 10.1016/j.ejmg.2017.08.017. Epub 2017 Sep 9.

PMID:
28899818
20.

Munc18a clusters SNARE-bearing liposomes prior to trans-SNARE zippering.

Arnold MG, Adhikari P, Kang B, Xu 徐昊 H.

Biochem J. 2017 Sep 24;474(19):3339-3354. doi: 10.1042/BCJ20170494.

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