Christopher Patzke, Yan Han, Jason Covy, Fei Yi, Stephan Maxeiner, Marius Wernig, Thomas C Südhof. J Clin Invest 2015
Times Cited: 47
Times Cited: 47
Times Cited
Times Co-cited
Similarity
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, Keisuke Hamada, Hitoshi Osaka, Jun Tohyama, Katsuhisa Uruno, Satoko Kumada, Kiyomi Nishiyama, Akira Nishimura,[...]. Nat Genet 2008
Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, Keisuke Hamada, Hitoshi Osaka, Jun Tohyama, Katsuhisa Uruno, Satoko Kumada, Kiyomi Nishiyama, Akira Nishimura,[...]. Nat Genet 2008
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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe,[...]. Neurology 2016
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe,[...]. Neurology 2016
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Rapid single-step induction of functional neurons from human pluripotent stem cells.
Yingsha Zhang, Changhui Pak, Yan Han, Henrik Ahlenius, Zhenjie Zhang, Soham Chanda, Samuele Marro, Christopher Patzke, Claudio Acuna, Jason Covy,[...]. Neuron 2013
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Synaptic assembly of the brain in the absence of neurotransmitter secretion.
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Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.
ChangHui Pak, Tamas Danko, Yingsha Zhang, Jason Aoto, Garret Anderson, Stephan Maxeiner, Fei Yi, Marius Wernig, Thomas C Südhof. Cell Stem Cell 2015
ChangHui Pak, Tamas Danko, Yingsha Zhang, Jason Aoto, Garret Anderson, Stephan Maxeiner, Fei Yi, Marius Wernig, Thomas C Südhof. Cell Stem Cell 2015
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Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size.
Ruud F G Toonen, Keimpe Wierda, Michèle S Sons, Heidi de Wit, L Niels Cornelisse, Arjen Brussaard, Jaap J Plomp, Matthijs Verhage. Proc Natl Acad Sci U S A 2006
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Munc18-1 is a molecular chaperone for α-synuclein, controlling its self-replicating aggregation.
Ye Jin Chai, Emma Sierecki, Vanesa M Tomatis, Rachel S Gormal, Nichole Giles, Isabel C Morrow, Di Xia, Jürgen Götz, Robert G Parton, Brett M Collins,[...]. J Cell Biol 2016
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Increased polyubiquitination and proteasomal degradation of a Munc18-1 disease-linked mutant causes temperature-sensitive defect in exocytosis.
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De novo mutations in epileptic encephalopathies.
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Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.
Satoshi Yamashita, Tomohiro Chiyonobu, Michiko Yoshida, Hiroshi Maeda, Masashi Zuiki, Satoshi Kidowaki, Kenichi Isoda, Masafumi Morimoto, Mitsuhiro Kato, Hirotomo Saitsu,[...]. Epilepsia 2016
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Generation of pure GABAergic neurons by transcription factor programming.
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Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
Jovana Kovacevic, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse,[...]. Brain 2018
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Induction of pluripotent stem cells from adult human fibroblasts by defined factors.
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Cerebral organoids model human brain development and microcephaly.
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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
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Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.
Brian P Grone, Maria Marchese, Kyla R Hamling, Maneesh G Kumar, Christopher S Krasniak, Federico Sicca, Filippo M Santorelli, Manisha Patel, Scott C Baraban. PLoS One 2016
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GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
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Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons.
Fei Yi, Tamas Danko, Salome Calado Botelho, Christopher Patzke, ChangHui Pak, Marius Wernig, Thomas C Südhof. Science 2016
Fei Yi, Tamas Danko, Salome Calado Botelho, Christopher Patzke, ChangHui Pak, Marius Wernig, Thomas C Südhof. Science 2016
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SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
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Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling.
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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, Anna Kaminska, Cécile Laroche, Marie Anne Barthez, Cyril Gitiaux, Céline Bartoli, Ana Borges-Correia, Pierre Cacciagli,[...]. Epilepsia 2011
Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, Anna Kaminska, Cécile Laroche, Marie Anne Barthez, Cyril Gitiaux, Céline Bartoli, Ana Borges-Correia, Pierre Cacciagli,[...]. Epilepsia 2011
14
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
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Munc18-1 binding to the neuronal SNARE complex controls synaptic vesicle priming.
Ferenc Deák, Yi Xu, Wen-Pin Chang, Irina Dulubova, Mikhail Khvotchev, Xinran Liu, Thomas C Südhof, Josep Rizo. J Cell Biol 2009
Ferenc Deák, Yi Xu, Wen-Pin Chang, Irina Dulubova, Mikhail Khvotchev, Xinran Liu, Thomas C Südhof, Josep Rizo. J Cell Biol 2009
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Reconstitution of the vital functions of Munc18 and Munc13 in neurotransmitter release.
Cong Ma, Lijing Su, Alpay B Seven, Yibin Xu, Josep Rizo. Science 2013
Cong Ma, Lijing Su, Alpay B Seven, Yibin Xu, Josep Rizo. Science 2013
14
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Julian Schubert, Aleksandra Siekierska, Mélanie Langlois, Patrick May, Clément Huneau, Felicitas Becker, Hiltrud Muhle, Arvid Suls, Johannes R Lemke, Carolien G F de Kovel,[...]. Nat Genet 2014
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Munc18-1 in secretion: lonely Munc joins SNARE team and takes control.
Ruud F G Toonen, Matthijs Verhage. Trends Neurosci 2007
Ruud F G Toonen, Matthijs Verhage. Trends Neurosci 2007
14
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
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Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, Kenji E Orii, Tsukasa Higuchi, Hideki Hoshino, Masaya Kubota, Hiroshi Arai, Tetsuzo Tagawa, Shigeru Kimura,[...]. Epilepsia 2010
14
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.
Motoko Otsuka, Hirokazu Oguni, Jao-Shwann Liang, Hiroko Ikeda, Katsumi Imai, Kyoko Hirasawa, Kaoru Imai, Emiko Tachikawa, Keiko Shimojima, Makiko Osawa,[...]. Epilepsia 2010
Motoko Otsuka, Hirokazu Oguni, Jao-Shwann Liang, Hiroko Ikeda, Katsumi Imai, Kyoko Hirasawa, Kaoru Imai, Emiko Tachikawa, Keiko Shimojima, Makiko Osawa,[...]. Epilepsia 2010
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The membrane fusion enigma: SNAREs, Sec1/Munc18 proteins, and their accomplices--guilty as charged?
Josep Rizo, Thomas C Südhof. Annu Rev Cell Dev Biol 2012
Josep Rizo, Thomas C Südhof. Annu Rev Cell Dev Biol 2012
14
Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones.
Noah Guy Lewis Guiberson, André Pineda, Debra Abramov, Parinati Kharel, Kathryn E Carnazza, Rachel T Wragg, Jeremy S Dittman, Jacqueline Burré. Nat Commun 2018
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Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses.
Yichen Shi, Peter Kirwan, James Smith, Hugh P C Robinson, Frederick J Livesey. Nat Neurosci 2012
Yichen Shi, Peter Kirwan, James Smith, Hugh P C Robinson, Frederick J Livesey. Nat Neurosci 2012
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A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.
Maria C N Marchetto, Cassiano Carromeu, Allan Acab, Diana Yu, Gene W Yeo, Yangling Mu, Gong Chen, Fred H Gage, Alysson R Muotri. Cell 2010
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CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
Sara Ricciardi, Federica Ungaro, Melanie Hambrock, Nils Rademacher, Gilda Stefanelli, Dario Brambilla, Alessandro Sessa, Cinzia Magagnotti, Angela Bachi, Elisa Giarda,[...]. Nat Cell Biol 2012
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12
FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders.
Jessica Mariani, Gianfilippo Coppola, Ping Zhang, Alexej Abyzov, Lauren Provini, Livia Tomasini, Mariangela Amenduni, Anna Szekely, Dean Palejev, Michael Wilson,[...]. Cell 2015
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Induction of human neuronal cells by defined transcription factors.
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12
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Cyril Mignot, Marie-Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel-An, Aurélia Jacquette, Benoit Arveiler, Fanny Morice-Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville,[...]. Epilepsia 2011
Cyril Mignot, Marie-Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel-An, Aurélia Jacquette, Benoit Arveiler, Fanny Morice-Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville,[...]. Epilepsia 2011
12
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
Romina Romaniello, Francesco Saettini, Elena Panzeri, Filippo Arrigoni, Maria T Bassi, Renato Borgatti. Neuroreport 2015
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Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors.
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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
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12
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.
Janina Gburek-Augustat, Stefanie Beck-Woedl, Andreas Tzschach, Peter Bauer, Martin Schoening, Angelika Riess. Eur J Paediatr Neurol 2016
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An extended helical conformation in domain 3a of Munc18-1 provides a template for SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) complex assembly.
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Mutations in the Drosophila Rop gene suggest a function in general secretion and synaptic transmission.
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Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome.
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Synaptic dysregulation in a human iPS cell model of mental disorders.
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10
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.