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123 results

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Page 1
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. Dos Santos AB, et al. Cell Rep Med. 2023 Dec 19;4(12):101308. doi: 10.1016/j.xcrm.2023.101308. Epub 2023 Dec 11. Cell Rep Med. 2023. PMID: 38086378 Free PMC article.
We find that overall inhibition in canonical feedforward microcircuits is defective in a P15-22 mouse model for Stxbp1 haploinsufficiency. Unexpectedly, we find that inhibitory synapses formed by parvalbumin-positive interneurons were largely unaffected. ...These fi …
We find that overall inhibition in canonical feedforward microcircuits is defective in a P15-22 mouse model for Stxbp1 haploin …
Myosin Va, a Novel Interaction Partner of STXBP1, Is Required to Transport Syntaxin1A to the Plasma Membrane.
Taura Y, Tozawa T, Fujimoto T, Ichise E, Chiyonobu T, Itoh K, Iehara T. Taura Y, et al. Neuroscience. 2023 Aug 1;524:256-268. doi: 10.1016/j.neuroscience.2023.05.031. Epub 2023 Jun 12. Neuroscience. 2023. PMID: 37315734
The haploinsufficiency of STXBP1 causes early infantile-onset developmental and epileptic encephalopathy, known as STXBP1 encephalopathy. ...Affinity purification coupled with mass spectrometry analysis identified a motor protein Myosin Va as a potential binding par …
The haploinsufficiency of STXBP1 causes early infantile-onset developmental and epileptic encephalopathy, known as STXBP1 ence …
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. Kovacevic J, et al. Brain. 2018 May 1;141(5):1350-1374. doi: 10.1093/brain/awy046. Brain. 2018. PMID: 29538625 Free PMC article.
Together, these cellular studies suggest that impaired protein stability and STXBP1 haploinsufficiency explain STXBP1-encephalopathy and that, therefore, Stxbp1+/- mice provide a valid mouse model. ...The mouse models reported here are va …
Together, these cellular studies suggest that impaired protein stability and STXBP1 haploinsufficiency explain STXBP1-encephal …
CASK, APBA1, and STXBP1 collaborate during insulin secretion.
Zhang K, Wang T, Liu X, Yuan Q, Xiao T, Yuan X, Zhang Y, Yuan L, Wang Y. Zhang K, et al. Mol Cell Endocrinol. 2021 Jan 15;520:111076. doi: 10.1016/j.mce.2020.111076. Epub 2020 Nov 4. Mol Cell Endocrinol. 2021. PMID: 33159991
Using co-immunoprecipitation, liquid chromatography-mass spectrometry and bioinformatic analysis, we identified that CASK, Adapter protein X11 alpha (APBA1), and Syntaxin binding protein 1 (STXBP1) formed tripartite complex during insulin secretion. CASK enhanced APBA1- …
Using co-immunoprecipitation, liquid chromatography-mass spectrometry and bioinformatic analysis, we identified that CASK, Adapter protein X …
Characterization of miR-218/322-Stxbp1 pathway in the process of insulin secretion.
Lang H, Ai Z, You Z, Wan Y, Guo W, Xiao J, Jin X. Lang H, et al. J Mol Endocrinol. 2015 Feb;54(1):65-73. doi: 10.1530/JME-14-0305. Epub 2014 Dec 8. J Mol Endocrinol. 2015. PMID: 25489007
In this study, we focused on the molecular mechanism of Stxbp1 in insulin secretion by identifying its upstream regulators: miR-218 and miR-322. The expression of Stxbp1 was significantly increased in isolated mouse islets exposed to high levels of glucose wi …
In this study, we focused on the molecular mechanism of Stxbp1 in insulin secretion by identifying its upstream regulators: miR-218 a …
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.
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. Chen W, et al. Elife. 2020 Feb 19;9:e48705. doi: 10.7554/eLife.48705. Elife. 2020. PMID: 32073399 Free PMC article.
Here we modeled STXBP1 encephalopathy in mice and found that Stxbp1 haploinsufficiency caused cognitive, psychiatric, and motor dysfunctions, as well as cortical hyperexcitability and seizures. ...These results demonstrate that Stxbp1 haploinsufficient …
Here we modeled STXBP1 encephalopathy in mice and found that Stxbp1 haploinsufficiency caused cognitive, psychiatric, a …
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. Lammertse HCA, et al. Brain. 2020 Feb 1;143(2):441-451. doi: 10.1093/brain/awz391. Brain. 2020. PMID: 31855252 Free PMC article.
Heterozygous mutations in the STXBP1 gene encoding the presynaptic protein MUNC18-1 cause STXBP1 encephalopathy, characterized by developmental delay, intellectual disability and epilepsy. ...Both cases were diagnosed with Lennox-Gastaut syndrome. In Munc18-1 null …
Heterozygous mutations in the STXBP1 gene encoding the presynaptic protein MUNC18-1 cause STXBP1 encephalopathy, characterized …
GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of STXBP1 Encephalopathy.
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. Kim JH, et al. J Neurosci. 2024 Apr 3;44(14):e1806232024. doi: 10.1523/JNEUROSCI.1806-23.2024. J Neurosci. 2024. PMID: 38360746 Free PMC article.
STXBP1 is an essential protein for presynaptic neurotransmitter release. ...However, the disease pathogenesis and cellular origins of the broad spectrum of neurological phenotypes are poorly understood. Here we generate cell type-specific Stxbp1 haploinsufficient ma …
STXBP1 is an essential protein for presynaptic neurotransmitter release. ...However, the disease pathogenesis and cellular origins of …
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Juliá-Palacios N, Ribeiro-Constante J, Altafaj X, Olivella M, O'Callaghan M, Darling A, Armstrong J, Artuch R, García-Cazorla À, Oyarzábal A. Illescas S, et al. J Inherit Metab Dis. 2023 Nov 6. doi: 10.1002/jimd.12689. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37932875
Samples from patients diagnosed with MCP2, CDKL5-, GRINpathies and STXBP1-related encephalopathies were included. We have performed univariate (UVA) and multivariate statistical analysis (MVA), using Wilcoxon rank-sum test, principal component analysis (PCA), and OPLS-DA. …
Samples from patients diagnosed with MCP2, CDKL5-, GRINpathies and STXBP1-related encephalopathies were included. We have performed u …
PIMT Controls Insulin Synthesis and Secretion through PDX1.
Sharma R, Maity SK, Chakrabarti P, Katika MR, Kapettu S, Parsa KVL, Misra P. Sharma R, et al. Int J Mol Sci. 2023 Apr 29;24(9):8084. doi: 10.3390/ijms24098084. Int J Mol Sci. 2023. PMID: 37175791 Free PMC article.
Consistently, PIMT levels were reduced in the pancreatic islets isolated from high fat diet (HFD)-fed mice. The RNA sequencing analysis of PIMT knockdown beta cells identified that the expression of key genes involved in insulin secretory pathway, Ins1 (insulin 1), Ins2 (i …
Consistently, PIMT levels were reduced in the pancreatic islets isolated from high fat diet (HFD)-fed mice. The RNA sequencing analys …
123 results