Baker K., Gordon S. L., Grozeva D., van Kogelenberg M., Roberts N. Y., Pike M. et al. 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. J .Clin. Invest. 125, 1670–1678.

PubMed  PubMed Central  Google Scholar 

Baker K., Gordon S. L., Melland H., Bumbak F., Scott D. J., Jiang T. J. et al. 2018 SYT1-associated neurodevelopmental disorder: a case series. Brain 141, 2576–2591.

Article  PubMed  PubMed Central  Google Scholar 

Bradberry M. M., Courtney N. A., Dominguez M. J., Lofquist S. M., Knox A. T., Sutton R. B. et al. 2020 Molecular basis for synaptotagmin-1-associated neurodevelopmental disorder. Neuron 107, 52–64.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cafiero C., Marangi G., Orteschi D., Ali M., Asaro A., Ponzi E. et al. 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. Eur. J. Hum. Genet. 23, 1499–1504.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Calvo S. E., Compton A. G., Hershman S. G., Lim S. C., Lieber D. S., Tucker E. J. et al. 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci. Transl. Med. 4, 118ra110.

Cesaroni C. A., Spagnoli C., Baga M., Rizzi S., Frattini D., Caraffi S. G. et al. 2023 Expanding phenotype of SYT1-related neurodevelopmental disorder: case report and literature review. Mol. Syndromol. 14, 493–497.

Article  PubMed  PubMed Central  Google Scholar 

Delmiro A., Rivera H., Garcia-Silva M. T., Garcia-Consuegra I., Martin-Hernandez E., Quijada-Fraile P. et al. 2013 Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. Hum. Mutat. 34, 1623–1627.

Article  CAS  PubMed  Google Scholar 

Graham L. C., Eaton S. L., Brunton P. J., Atrih A., Smith C., Lamont D. J. et al. 2017 Proteomic profiling of neuronal mitochondria reveals modulators of synaptic architecture. Mol. Neurodegener 12, 77.

Article  PubMed  PubMed Central  Google Scholar 

Gruget C., Bello O., Coleman J., Krishnakumar S. S., Perez E., Rothman J. E. et al. 2020 Synaptotagmin-1 membrane binding is driven by the C2B domain and assisted cooperatively by the C2A domain. Sci. Rep. 10, 18011.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Huang W., Yang Y., Che F., Wu H., Ma Y. and Zhao Y. 2023 Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns. Neurogenetics 25, 27–31.

Article  PubMed  Google Scholar 

Kaplanis J., Samocha K. E., Wiel L., Zhang Z., Arvai K. J., Eberhardt R. Y. et al. 2020 Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586, 757–762.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mackler J. M., Drummond J. A., Loewen C. A., Robinson I. M. and Reist N. E. 2002 The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo. Nature 418, 340–344.

Article  CAS  PubMed  Google Scholar 

Melland H., Bumbak F., Kolesnik-Taylor A., Ng-Cordell E., John A., Constantinou P. et al. 2022 Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. Genet. Med. 24, 880–893.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nishiki T. and Augustine G. J. 2004 Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release. J. Neurosci. 24, 8542–8550.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Paddock B. E., Wang Z., Biela L. M., Chen K., Getzy M. D., Striegel A. et al. 2011 Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo. J. Neurosci. 31, 2248–2257.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Porto M. B., Castro G., Pereira S. S. S., Uchoa E., Zatarin R., Minasi L. B. et al. 2024 c.1103T>C (p.Ile368Th) de novo variant in synaptotagmin 1 (SYT1) gene is pathogenic, leading to an ultra-rare neurodevelopmental disorder: the Baker-Gordon syndrome. Int. Med. Case Rep. J. 17, 63–70.

PubMed  PubMed Central  Google Scholar 

Riggs E., Shakkour Z., Anderson C. L. and Carney P. R. 2022 SYT1-Associated neurodevelopmental disorder: a narrative review. Children (basel) 9, 1439.

PubMed  Google Scholar 

Rivera J., Gangwani L. and Kumar S. 2023 Mitochondria localized microRNAs: An unexplored miRNA niche in Alzheimer's disease and aging. Cells 12, 742.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rodriguez-Garcia M. E., Cotrina-Vinagre F. J., Olson A. N., Sanchez-Calvin M. T., de Aragon A. M., de Las Heras R. S. et al. 2023 A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2. J. Hum. Genet. 68, 543–550.

Article  CAS  PubMed  Google Scholar 

Sap K. A., Guler A. T., Bury A., Dekkers D., Demmers J. A. A. and Reits E. A. 2021 Identification of full-length wild-type and mutant huntingtin interacting proteins by crosslinking immunoprecipitation in mice brain cortex. J. Huntingtons Dis. 10, 335–347.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sarkar S., Jun S., Rellick S., Quintana D. D., Cavendish J. Z. and Simpkins J. W. 2016 Expression of microRNA-34a in Alzheimer’s disease brain targets genes linked to synaptic plasticity, energy metabolism, and resting state network activity. Brain Res. 1646, 139–151.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schon E. A. and Przedborski S. 2011 Mitochondria: the next (neurode)generation. Neuron 70, 1033–1053.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shao X., Davletov B. A., Sutton R. B., Sudhof T. C. and Rizo J. 1996 Bipartite Ca2+-binding motif in C2 domains of synaptotagmin and protein kinase C. Science 273, 248–251.

Article  CAS  PubMed  Google Scholar 

Stevens C. F. and Sullivan J. M. 2003 The synaptotagmin C2A domain is part of the calcium sensor controlling fast synaptic transmission. Neuron 39, 299–308.

Article  CAS  PubMed  Google Scholar 

Ugur B., Bao H., Stawarski M., Duraine L. R., Zuo Z., Lin Y. Q. et al. 2017 The Krebs cycle enzyme isocitrate dehydrogenase 3A couples mitochondrial metabolism to synaptic transmission. Cell Rep. 21, 3794–3806.

Article  CAS  PubMed  PubMed Central  Google Scholar 

van Boven M. A., Mestroni M., Zwijnenburg P. J. G., Verhage M. and Cornelisse L. N. 2024 A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release. Mol. Psychiatry. https://doi.org/10.1038/s41380-024-02444-5.

Article  PubMed  Google Scholar 

Zhang L., Li D., Yin L., Zhang C., Qu H. and Xu J. 2023 Neuroglobin protects against cerebral ischemia/reperfusion injury in rats by suppressing mitochondrial dysfunction and endoplasmic reticulum stress-mediated neuronal apoptosis through synaptotagmin-1. Environ. Toxicol. 38, 1891–1904.

Article  CAS  PubMed  Google Scholar