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Items: 1 to 20 of 87

1.
Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China
Miriam Kessi, Baiyu Chen, Li-Dan Shan, Ying Wang, Lifen Yang, Fei Yin, Fang He, Jing Peng, Guoli Wang
BMC Med Genomics. 2023; 16: 46. Published online 2023 Mar 7. doi: 10.1186/s12920-023-01474-2
PMCID:
PMC9990233
ArticlePDF–1.4M
2.
Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy
Faye McLeod, Anna Dimtsi, Amy C Marshall, David Lewis-Smith, Rhys Thomas, Gavin J Clowry, Andrew J Trevelyan
Brain. 2023 Mar; 146(3): 850–857. Published online 2022 Oct 31. doi: 10.1093/brain/awac396
PMCID:
PMC9976961
ArticlePDF–912K
3.
An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1
Femke M. Feringa, Annemiek A. van Berkel, Anushka Nair, Matthijs Verhage
J Neurosci. 2023 Jan 18; 43(3): 347–358. doi: 10.1523/JNEUROSCI.0611-22.2022
PMCID:
PMC9864589
ArticlePDF–5.3M
4.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffner, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen
Neurology. 2022 Jul 19; 99(3): e221–e233. doi: 10.1212/WNL.0000000000200715
Correction in:
Neurology. 2023 Jul 4; 101(1): 52.
PMCID:
PMC9302932
ArticlePDF–526K
5.
Assessing the landscape of STXBP1-related disorders in 534 individuals
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, Ganna Balagura, Eryn Fitch, Katherine Helbig, Jing Gan, Shiva Ganesan, Michael C Kaufman, Colin A Ellis, David Lewis-Smith, Peter Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Goes, Christelle M El Achkar, Jan Henje Doering, Francesca Furia, Ángeles García-Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik-Taylor, Hanna Lammertse, Jeehun Lee, Alexandra Mackie, Mala Misra-Isrie, Heather Olson, Emma Sexton, Beth Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke van Haelst, Christopher Yuskaitis, Sarah Weckhuysen, Ben Prosser, Charlene Son Rigby, Scott Demarest, Samuel Pierce, Yuehua Zhang, Rikke S Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig
Brain. 2022 May; 145(5): 1668–1683. Published online 2021 Nov 23. doi: 10.1093/brain/awab327
PMCID:
PMC9166568
ArticlePDF–2.1M
6.
Role of Munc18-1 in the biological functions and pathogenesis of neurological disorders
Fajuan Tang, Dongqiong Xiao, Lin Chen, Hu Gao, Xihong Li
Mol Med Rep. 2021 Mar; 23(3): 198. Published online 2021 Jan 12. doi: 10.3892/mmr.2021.11837
PMCID:
PMC7821349
ArticlePDF–366K
7.
Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease
Krami Al Mehdi, Benhnini Fouad, Elkarhat Zouhair, Belkady Boutaina, Naasse Yassine, Ait El Cadi Chaimaa, Sifeddine Najat, Rouba Hassan, Roky Rachida, Barakat Abdelhamid, Nahili Halima
Biomed Res Int. 2019; 2019: 4872101. Published online 2019 Dec 17. doi: 10.1155/2019/4872101
PMCID:
PMC6955126
ArticlePDF–2.1M
8.
STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics
Sinéad O’Brien, Elise Ng-Cordell, The DDD Study, Duncan E. Astle, Gaia Scerif, Kate Baker
J Neurodev Disord. 2019; 11: 17. Published online 2019 Aug 6. doi: 10.1186/s11689-019-9278-9
PMCID:
PMC6683428
ArticlePDF–755K
9.
A novel de novo STXBP1 mutation causes mitochondrial complex I deficiency and late onset juvenile onset parkinsonism
MJ Keogh, D Daud, A Pyle, H Steele, J Duff, H Griffin, S Taggart, AP Basu, R Taylor, R Horvath, V Ramesh, PF Chinnery
Neurogenetics. Author manuscript; available in PMC 2019 Jul 1.
Published in final edited form as: Neurogenetics. 2015 Jan 1; 16(1): 65–67. Published online 2014 Nov 25. doi: 10.1007/s10048-014-0431-z
PMCID:
PMC6600868
ArticlePDF–596K
10.
Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review
Shunli Liu, Liyuan Wang, Xiao Tang Cai, Hui Zhou, Dan Yu, Zhiling Wang
Medicine (Baltimore) 2018 May; 97(18): e0663. Published online 2018 May 4. doi: 10.1097/MD.0000000000010663
PMCID:
PMC6392729
ArticlePDF–632K
11.
Munc18-1 catalyzes neuronal SNARE assembly by templating SNARE association
Junyi Jiao, Mengze He, Sarah A Port, Richard W Baker, Yonggang Xu, Hong Qu, Yujian Xiong, Yukun Wang, Huaizhou Jin, Travis J Eisemann, Frederick M Hughson, Yongli Zhang
eLife. 2018; 7: e41771. Published online 2018 Dec 12. doi: 10.7554/eLife.41771
PMCID:
PMC6320071
ArticlePDF–5.3M
12.
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy
Jovana Kovačević, 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 Verhage
Brain. 2018 May; 141(5): 1350–1374. Published online 2018 Mar 12. doi: 10.1093/brain/awy046
PMCID:
PMC5917748
ArticlePDF–2.7M
13.
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
Mohammed Uddin, Marc Woodbury-Smith, Ada J. S. Chan, Ammar Albanna, Berge Minassian, Cyrus Boelman, Stephen W. Scherer
G3 (Bethesda) 2018 Apr; 8(4): 1115–1118. Published online 2018 Feb 22. doi: 10.1534/g3.118.200080
PMCID:
PMC5873902
ArticlePDF–821K
14.
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers
Davd E. Sleat, Abla Tannous, Istvan Sohar, Jennfe A. Wiseman, Haiyan Zheng, Meiqian Qian, Caifeng Zhao, Winnie Xin, Rosemary Barone, Katherine B. Sims, Dirk F. Moore, Peter Lobel
J Proteome Res. Author manuscript; available in PMC 2018 Mar 20.
Published in final edited form as: J Proteome Res. 2017 Oct 6; 16(10): 3787–3804. Published online 2017 Aug 28. doi: 10.1021/acs.jproteome.7b00460
PMCID:
PMC5860807
ArticlePDF–1020K
15.
Analysis of conditional heterozygous STXBP1 mutations in human neurons
Christopher Patzke, Yan Han, Jason Covy, Fei Yi, Stephan Maxeiner, Marius Wernig, Thomas C. Südhof
J Clin Invest. 2015 Sep 1; 125(9): 3560–3571. Published online 2015 Aug 17. doi: 10.1172/JCI78612
PMCID:
PMC4588304
ArticlePDF–4.4M
16.
Intellectual disability without epilepsy associated with STXBP1 disruption
Fadi F Hamdan, Julie Gauthier, Sylvia Dobrzeniecka, Anne Lortie, Laurent Mottron, Michel Vanasse, Guy D'Anjou, Jean Claude Lacaille, Guy A Rouleau, Jacques L Michaud
Eur J Hum Genet. 2011 May; 19(5): 607–609. Published online 2011 Mar 2. doi: 10.1038/ejhg.2010.183
PMCID:
PMC3083607
ArticlePDF–211K
17.
Functional analysis of epilepsy‐associated variants in STXBP1/Munc18‐1 using humanized Caenorhabditis elegans
Bangfu Zhu, Jennifer C. H. Mak, Andrew P. Morris, Anthony G. Marson, Jeff W. Barclay, Graeme J. Sills, Alan Morgan
Epilepsia. 2020 Apr; 61(4): 810–821. Published online 2020 Feb 29. doi: 10.1111/epi.16464
PMCID:
PMC8614121
ArticlePDF–1.1M
18.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
Francesca Cogliati, Valentina Giorgini, Maura Masciadri, Maria Teresa Bonati, Margherita Marchi, Irene Cracco, Davide Gentilini, Angela Peron, Miriam Nella Savini, Luigina Spaccini, Barbara Scelsa, Silvia Maitz, Edvige Veneselli, Giulia Prato, Maria Pintaudi, Isabella Moroni, Aglaia Vignoli, Lidia Larizza, Silvia Russo
Int J Mol Sci. 2019 Aug; 20(15): 3621. Published online 2019 Jul 24. doi: 10.3390/ijms20153621
PMCID:
PMC6696386
ArticlePDF–1.2M
19.
The N-peptide–binding mode is critical to Munc18-1 function in synaptic exocytosis
Chong Shen, Yinghui Liu, Haijia Yu, Daniel R. Gulbranson, Igor Kogut, Ganna Bilousova, Chen Zhang, Michael H. B. Stowell, Jingshi Shen
J Biol Chem. 2018 Nov 23; 293(47): 18309–18317. Published online 2018 Oct 1. doi: 10.1074/jbc.RA118.005254
PMCID:
PMC6254354
ArticlePDF–1.6M
20.
Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing
Jamie A. Lopez, Tahereh Noori, Adrian Minson, Lu Li Jovanoska, Kevin Thia, Michael S. Hildebrand, Hedieh Akhlaghi, Phillip K. Darcy, Michael H. Kershaw, Natasha J. Brown, Andrew Grigg, Joseph A. Trapani, Ilia Voskoboinik
Front Immunol. 2018; 9: 529. Published online 2018 Mar 15. doi: 10.3389/fimmu.2018.00529
PMCID:
PMC5862791
ArticlePDF–1.9M

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