212 related articles for article (PubMed ID: 38242640)
1. 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]
2. 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]
3.
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]
4. 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]
5. 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]
6. GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of
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
J Neurosci; 2024 Apr; 44(14):. PubMed ID: 38360746
[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. Targeted stabilization of Munc18-1 function via pharmacological chaperones.
Abramov D; Guiberson NGL; Daab A; Na Y; Petsko GA; Sharma M; Burré J
EMBO Mol Med; 2021 Jan; 13(1):e12354. PubMed ID: 33332765
[TBL] [Abstract][Full Text] [Related]
9. DOC2 proteins in rat brain: complementary distribution and proposed function as vesicular adapter proteins in early stages of secretion.
Verhage M; de Vries KJ; Røshol H; Burbach JP; Gispen WH; Südhof TC
Neuron; 1997 Mar; 18(3):453-61. PubMed ID: 9115738
[TBL] [Abstract][Full Text] [Related]
10. 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
Cell Rep Med; 2023 Dec; 4(12):101308. PubMed ID: 38086378
[TBL] [Abstract][Full Text] [Related]
11. Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.
Öttl M; Toonen RF; Verhage M
Hum Mol Genet; 2024 May; 33(11):991-1000. PubMed ID: 38484778
[TBL] [Abstract][Full Text] [Related]
12. Munc13-1 and Munc18-1 together prevent NSF-dependent de-priming of synaptic vesicles.
He E; Wierda K; van Westen R; Broeke JH; Toonen RF; Cornelisse LN; Verhage M
Nat Commun; 2017 Jun; 8():15915. PubMed ID: 28635948
[TBL] [Abstract][Full Text] [Related]
13. Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones.
Guiberson NGL; Pineda A; Abramov D; Kharel P; Carnazza KE; Wragg RT; Dittman JS; Burré J
Nat Commun; 2018 Sep; 9(1):3986. PubMed ID: 30266908
[TBL] [Abstract][Full Text] [Related]
14. A Munc18-1 mutant mimicking phosphorylation by Down Syndrome-related kinase Dyrk1a supports normal synaptic transmission and promotes recovery after intense activity.
Classen J; Saarloos I; Meijer M; Sullivan PF; Verhage M
Sci Rep; 2020 Feb; 10(1):3181. PubMed ID: 32081899
[TBL] [Abstract][Full Text] [Related]
15. STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D; Guiberson NGL; Burré J
J Neurochem; 2021 Apr; 157(2):165-178. PubMed ID: 32643187
[TBL] [Abstract][Full Text] [Related]
16. Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation.
Değerliyurt A; Kesen GG; Ceylaner S
Turk J Pediatr; 2019; 61(5):757-759. PubMed ID: 32105008
[TBL] [Abstract][Full Text] [Related]
17. DOC2 isoforms play dual roles in insulin secretion and insulin-stimulated glucose uptake.
Li J; Cantley J; Burchfield JG; Meoli CC; Stöckli J; Whitworth PT; Pant H; Chaudhuri R; Groffen AJ; Verhage M; James DE
Diabetologia; 2014 Oct; 57(10):2173-82. PubMed ID: 25005332
[TBL] [Abstract][Full Text] [Related]
18. DOC2A and DOC2B are sensors for neuronal activity with unique calcium-dependent and kinetic properties.
Groffen AJ; Friedrich R; Brian EC; Ashery U; Verhage M
J Neurochem; 2006 May; 97(3):818-33. PubMed ID: 16515538
[TBL] [Abstract][Full Text] [Related]
19. Doc2 Proteins Are Not Required for the Increased Spontaneous Release Rate in Synaptotagmin-1-Deficient Neurons.
Díez-Arazola R; Meijer M; Bourgeois-Jaarsma Q; Cornelisse LN; Verhage M; Groffen AJ
J Neurosci; 2020 Mar; 40(13):2606-2617. PubMed ID: 32098902
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]