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For: Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H; Deciphering Developmental Disorders Study., SYNAPS Study Group. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. Am J Hum Genet 2019;104:721-30. [PMID: 30929742 DOI: 10.1016/j.ajhg.2019.02.016] [Cited by in Crossref: 60] [Cited by in F6Publishing: 44] [Article Influence: 20.0] [Reference Citation Analysis]
Number Citing Articles
1 Simmons RL, Li H, Alten B, Santos MS, Jiang R, Paul B, Lalani SJ, Cortesi A, Parks K, Khandelwal N, Smith-Packard B, Phoong MA, Chez M, Fisher H, Scheuerle AE, Shinawi M, Hussain SA, Kavalali ET, Sherr EH, Voglmaier SM. Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment. Hum Mutat 2020;41:1999-2011. [PMID: 32906212 DOI: 10.1002/humu.24109] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
2 White DN, Stowell MHB. Room for Two: The Synaptophysin/Synaptobrevin Complex. Front Synaptic Neurosci 2021;13:740318. [PMID: 34616284 DOI: 10.3389/fnsyn.2021.740318] [Reference Citation Analysis]
3 Barros II, Leão V, Santis JO, Rosa RCA, Brotto DB, Storti CB, Siena ÁDD, Molfetta GA, Silva WA Jr. Non-Syndromic Intellectual Disability and Its Pathways: A Long Noncoding RNA Perspective. Noncoding RNA 2021;7:22. [PMID: 33799572 DOI: 10.3390/ncrna7010022] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Beijer D, Sisto A, Van Lent J, Baets J, Timmerman V. Defects in Axonal Transport in Inherited Neuropathies. J Neuromuscul Dis 2019;6:401-19. [PMID: 31561383 DOI: 10.3233/JND-190427] [Cited by in Crossref: 15] [Cited by in F6Publishing: 7] [Article Influence: 7.5] [Reference Citation Analysis]
5 Xi XJ, Tang JH, Zhang BB, Xiao X, Hu XY, Wan Y, Zhou C, Lin H. Dlg4 and Vamp2 are involved in comorbid epilepsy and attention-deficit hyperactivity disorder: A microarray data study. Epilepsy Behav 2020;110:107192. [PMID: 32580088 DOI: 10.1016/j.yebeh.2020.107192] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
6 Cali E, Rocca C, Salpietro V, Houlden H. Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery. Front Neurol 2021;12:806506. [PMID: 35095745 DOI: 10.3389/fneur.2021.806506] [Reference Citation Analysis]
7 Lauretti E, Dabrowski K, Praticò D. The neurobiology of non-coding RNAs and Alzheimer's disease pathogenesis: Pathways, mechanisms and translational opportunities. Ageing Res Rev 2021;71:101425. [PMID: 34384901 DOI: 10.1016/j.arr.2021.101425] [Cited by in Crossref: 15] [Cited by in F6Publishing: 8] [Article Influence: 15.0] [Reference Citation Analysis]
8 Tang BL. SNAREs and developmental disorders. J Cell Physiol 2021;236:2482-504. [PMID: 32959907 DOI: 10.1002/jcp.30067] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
9 Bourinaris T, Athanasiou A, Efthymiou S, Wiethoff S, Salpietro V, Houlden H. Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders. Eur J Hum Genet 2021;29:1027-31. [PMID: 33824468 DOI: 10.1038/s41431-021-00866-1] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Piccolo G, Amadori E, Vari MS, Marchese F, Riva A, Ghirotto V, Iacomino M, Salpietro V, Zara F, Striano P. Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder. J Pediatr Genet 2021;10:236-8. [PMID: 34504728 DOI: 10.1055/s-0040-1713159] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
11 Zou G, Chen Q, Chen K, Zuo X, Ge Y, Hou Y, Pan T, Pan H, Liu D, Zhang L, Xiong W. Human Hyperekplexic Mutations in Glycine Receptors Disinhibit the Brainstem by Hijacking GABAA Receptors. iScience 2019;19:634-46. [PMID: 31450193 DOI: 10.1016/j.isci.2019.08.018] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
12 [DOI: 10.1101/797787] [Cited by in Crossref: 23] [Cited by in F6Publishing: 5] [Reference Citation Analysis]
13 Gandhi J, Sushma MV, Rengan AK, Naik MN, Mishra DK, Boyinpally SR, Joseph J. Proteomic profiling of exosomes in a mouse model of Candida albicans endophthalmitis. Exp Cell Res 2022;:113222. [PMID: 35618014 DOI: 10.1016/j.yexcr.2022.113222] [Reference Citation Analysis]
14 Melland H, Carr EM, Gordon SL. Disorders of synaptic vesicle fusion machinery. J Neurochem 2021;157:130-64. [PMID: 32916768 DOI: 10.1111/jnc.15181] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
15 Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain 2021:awab327. [PMID: 35190816 DOI: 10.1093/brain/awab327] [Reference Citation Analysis]
16 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. Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. Elife 2020;9:e48705. [PMID: 32073399 DOI: 10.7554/eLife.48705] [Cited by in Crossref: 11] [Cited by in F6Publishing: 3] [Article Influence: 5.5] [Reference Citation Analysis]
17 Montanari M, Martella G, Bonsi P, Meringolo M. Autism Spectrum Disorder: Focus on Glutamatergic Neurotransmission. Int J Mol Sci 2022;23:3861. [PMID: 35409220 DOI: 10.3390/ijms23073861] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
18 Baizabal-carvallo JF, Cardoso F. Chorea in children: etiology, diagnostic approach and management. J Neural Transm 2020;127:1323-42. [DOI: 10.1007/s00702-020-02238-3] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
19 Baldassari S, Musante I, Iacomino M, Zara F, Salpietro V, Scudieri P. Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders. Front Cell Dev Biol 2020;8:590119. [PMID: 33154971 DOI: 10.3389/fcell.2020.590119] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
20 Sauvola CW, Littleton JT. SNARE Regulatory Proteins in Synaptic Vesicle Fusion and Recycling. Front Mol Neurosci 2021;14:733138. [PMID: 34421538 DOI: 10.3389/fnmol.2021.733138] [Reference Citation Analysis]
21 Corrêa T, Mayndra M, Santos-rebouças CB. Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome. Mol Neurobiol. [DOI: 10.1007/s12035-022-02792-9] [Reference Citation Analysis]
22 Odaka H, Numakawa T, Soga M, Kido J, Matsumoto S, Kajihara R, Okumiya T, Tani N, Tanoue Y, Fukuda T, Furuya H, Inoue T, Era T. An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca2+ dynamics. Neurobiol Dis 2021;152:105279. [PMID: 33516873 DOI: 10.1016/j.nbd.2021.105279] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
23 Lins ÉM, Oliveira NCM, Reis O, Ferrasa A, Herai R, Muotri AR, Massirer KB, Bengtson MH. Genome-wide translation control analysis of developing human neurons. Mol Brain 2022;15:55. [PMID: 35706057 DOI: 10.1186/s13041-022-00940-9] [Reference Citation Analysis]
24 Doke M, Kashanchi F, Khan MA, Samikkannu T. HIV-1 Tat and cocaine impact astrocytic energy reservoir influence on miRNA epigenetic regulation. Genomics 2021;113:3461-75. [PMID: 34418497 DOI: 10.1016/j.ygeno.2021.08.013] [Reference Citation Analysis]
25 Spagnoli C, Fusco C, Percesepe A, Leuzzi V, Pisani F. Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review. Int J Mol Sci 2021;22:4202. [PMID: 33919646 DOI: 10.3390/ijms22084202] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
26 Tran Mau-Them F, Duffourd Y, Vitobello A, Bruel AL, Denommé-Pichon AS, Nambot S, Delanne J, Moutton S, Sorlin A, Couturier V, Bourgeois V, Chevarin M, Poe C, Mosca-Boidron AL, Callier P, Safraou H, Faivre L, Philippe C, Thauvin-Robinet C; Orphanomix Physician’s Group. Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Mol Genet Genomic Med 2021;:e1836. [PMID: 34716697 DOI: 10.1002/mgg3.1836] [Reference Citation Analysis]
27 Spoto G, Valentini G, Saia MC, Butera A, Amore G, Salpietro V, Nicotera AG, Di Rosa G. Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction. Front Neurol 2022;13:826211. [DOI: 10.3389/fneur.2022.826211] [Reference Citation Analysis]
28 Zhou CX, Gao M, Han B, Cong H, Zhu XQ, Zhou HY. Quantitative Peptidomics of Mouse Brain After Infection With Cyst-Forming Toxoplasma gondii. Front Immunol 2021;12:681242. [PMID: 34367142 DOI: 10.3389/fimmu.2021.681242] [Reference Citation Analysis]
29 Sunaga Y, Muramatsu K, Kosaki K, Sugai K, Mizuno T, Kouno M, Tashiro M. Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan. Brain and Development 2020;42:529-33. [DOI: 10.1016/j.braindev.2020.04.001] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
30 Nicotera AG, Dicanio D, Pironti E, Bonsignore M, Cafeo A, Efthymiou S, Mondello P, Salpietro V, Houlden H, Di Rosa G. De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype. J Neurogenet 2021;35:67-73. [PMID: 33821742 DOI: 10.1080/01677063.2021.1892094] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
31 Alten B, Zhou Q, Shin OH, Esquivies L, Lin PY, White KI, Sun R, Chung WK, Monteggia LM, Brunger AT, Kavalali ET. Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies. Neuron 2021;109:59-72.e5. [PMID: 33147442 DOI: 10.1016/j.neuron.2020.10.012] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
32 Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A. New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PLoS One 2021;16:e0258766. [PMID: 34653234 DOI: 10.1371/journal.pone.0258766] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
33 Huber N, Hoffmann D, Giniatullina R, Rostalski H, Leskelä S, Takalo M, Natunen T, Solje E, Remes AM, Giniatullin R, Hiltunen M, Haapasalo A. C9orf72 hexanucleotide repeat expansion leads to altered neuronal and dendritic spine morphology and synaptic dysfunction. Neurobiol Dis 2022;162:105584. [PMID: 34915153 DOI: 10.1016/j.nbd.2021.105584] [Reference Citation Analysis]
34 Banks GT, Guillaumin MCC, Heise I, Lau P, Yin M, Bourbia N, Aguilar C, Bowl MR, Esapa C, Brown LA, Hasan S, Tagliatti E, Nicholson E, Bains RS, Wells S, Vyazovskiy VV, Volynski K, Peirson SN, Nolan PM. Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits. Sci Adv 2020;6:eabb3567. [PMID: 32851175 DOI: 10.1126/sciadv.abb3567] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
35 Casto C, Dipasquale V, Ceravolo I, Gambadauro A, Aliberto E, Galletta K, Granata F, Ceravolo G, Falzia E, Riva A, Piccolo G, Cutrupi MC, Striano P, Accogli A, Zara F, Di Rosa G, Gitto E, Calì E, Efthymiou S, Salpietro V, Houlden H, Chimenz R. Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome. Brain Sci 2021;11:1150. [PMID: 34573171 DOI: 10.3390/brainsci11091150] [Reference Citation Analysis]
36 Zhou J, Li Q, Wu W, Zhang X, Zuo Z, Lu Y, Zhao H, Wang Z. Discovery of Novel Drug Candidates for Alzheimer’s Disease by Molecular Network Modeling. Front Aging Neurosci 2022;14:850217. [DOI: 10.3389/fnagi.2022.850217] [Reference Citation Analysis]
37 Banne E, Falik-Zaccai T, Brielle E, Kalfon L, Ladany H, Klinger D, Schneidman-Duhovny D, Linial M. De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A. Am J Med Genet B Neuropsychiatr Genet 2020;183:412-22. [PMID: 32815282 DOI: 10.1002/ajmg.b.32816] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
38 Yang C, Kang B, Cao Z, Zhang J, Zhao F, Wang D, Su P, Chen J, Zhu L. Early-Life Pb Exposure Might Exert Synapse-Toxic Effects Via Inhibiting Synapse-Associated Membrane Protein 2 (VAMP2) Mediated by Upregulation of miR-34b. JAD 2022. [DOI: 10.3233/jad-215638] [Reference Citation Analysis]
39 Bonnycastle K, Davenport EC, Cousin MA. Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle. J Neurochem 2021;157:179-207. [PMID: 32378740 DOI: 10.1111/jnc.15035] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 6.0] [Reference Citation Analysis]
40 Wang X, Zhang J, Zhou L, Xu B, Ren X, He K, Nie L, Li X, Liu J, Yang X, Yuan J. Long-term iron exposure causes widespread molecular alterations associated with memory impairment in mice. Food Chem Toxicol 2019;130:242-52. [PMID: 31136779 DOI: 10.1016/j.fct.2019.05.038] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
41 John A, Ng-Cordell E, Hanna N, Brkic D, Baker K. The neurodevelopmental spectrum of synaptic vesicle cycling disorders. J Neurochem 2021;157:208-28. [PMID: 32738165 DOI: 10.1111/jnc.15135] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 5.0] [Reference Citation Analysis]
42 Chen F, Chen H, Chen Y, Wei W, Sun Y, Zhang L, Cui L, Wang Y. Dysfunction of the SNARE complex in neurological and psychiatric disorders. Pharmacol Res 2021;165:105469. [PMID: 33524541 DOI: 10.1016/j.phrs.2021.105469] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
43 Costa AS, Ferri E, Guerini FR, Rossi PD, Arosio B, Clerici M. VAMP2 Expression and Genotype Are Possible Discriminators in Different Forms of Dementia. Front Aging Neurosci 2022;14:858162. [DOI: 10.3389/fnagi.2022.858162] [Reference Citation Analysis]
44 Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K; Care4Rare Canada Consortium. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med 2021;23:653-60. [PMID: 33299146 DOI: 10.1038/s41436-020-01020-w] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
45 Verhage M, Sørensen JB. SNAREopathies: Diversity in Mechanisms and Symptoms. Neuron 2020;107:22-37. [PMID: 32559416 DOI: 10.1016/j.neuron.2020.05.036] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 5.0] [Reference Citation Analysis]
46 Marcé-Grau A, Elorza-Vidal X, Pérez-Rius C, Ruiz-Nel Lo A, Sala-Coromina J, Gabau E, Estévez R, Macaya A. Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy. Hum Mutat 2021. [PMID: 34212451 DOI: 10.1002/humu.24252] [Reference Citation Analysis]
47 Steel D, Kurian MA. Recent genetic advances in early-onset dystonia. Curr Opin Neurol 2020;33:500-7. [PMID: 32657892 DOI: 10.1097/WCO.0000000000000831] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
48 Wiatr K, Marczak Ł, Pérot JB, Brouillet E, Flament J, Figiel M. Broad Influence of Mutant Ataxin-3 on the Proteome of the Adult Brain, Young Neurons, and Axons Reveals Central Molecular Processes and Biomarkers in SCA3/MJD Using Knock-In Mouse Model. Front Mol Neurosci 2021;14:658339. [PMID: 34220448 DOI: 10.3389/fnmol.2021.658339] [Cited by in F6Publishing: 1] [Reference Citation Analysis]