Uwineza, A.; Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda
CABERG, Jean-Hubert ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Unité de laboratoire - neurogénétique
Hitayezu, J.; Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda
Wenric, Stéphane ; GIGA-Research, Human Genetics Unit, University of Liege, Liege, Belgium
Mutesa, L.; Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda
Vial, Y.; Department of Genetics, AP HP - Robert Debré University Hospital, Paris, France, PROTECT, INSERM UMR1141, Université de Paris, Paris, France
Drunat, S.; Department of Genetics, AP HP - Robert Debré University Hospital, Paris, France, PROTECT, INSERM UMR1141, Université de Paris, Paris, France
Passemard, S.; Department of Genetics, AP HP - Robert Debré University Hospital, Paris, France, PROTECT, INSERM UMR1141, Université de Paris, Paris, France
Verloes, A.; Department of Genetics, AP HP - Robert Debré University Hospital, Paris, France, PROTECT, INSERM UMR1141, Université de Paris, Paris, France
El Ghouzzi, V.; PROTECT, INSERM UMR1141, Université de Paris, Paris, France
Bours, Vincent ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine
Language :
English
Title :
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report
Bonifacino, J.S., Hierro, A., Transport according to GARP: receiving retrograde cargo at the trans-Golgi network. Trends Cell Biol. 21 (2011), 159–167 https://doi.org/10.1016/j.tcb.2010.11.003.
Conibear, E., Cleck, J.N., Stevens, T.H., Vps51p mediates the association of the GARP (Vps52/53/54) complex with the late Golgi t-SNARE Tlg1p. Mol. Biol. Cell 14 (2003), 1610–1623 https://doi.org/10.1091/mbc.e02-10-0654.
Conibear, E., Stevens, T.H., Vps52p, Vps53p, and Vps54p form a novel multisubunit complex required for protein sorting at the yeast late Golgi. Mol. Biol. Cell 11 (2000), 305–323.
Feinstein, M., Flusser, H., Lerman-Sagie, T., Ben-Zeev, B., Lev, D., Agamy, O., Cohen, I., Kadir, R., Sivan, S., Leshinsky-Silver, E., Markus, B., Birk, O.S., VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J. Med. Genet. 51 (2014), 303–308 https://doi.org/10.1136/jmedgenet-2013-101823.
Gershlick, D.C., Ishida, M., Jones, J.R., Bellomo, A., Bonifacino, J.S., Everman, D.B., A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes. Hum. Mol. Genet., 2019 https://doi.org/10.1093/hmg/ddy423.
Hady-Cohen, R., Ben-Pazi, H., Adir, V., Yosovich, K., Blumkin, L., Lerman-Sagie, T., Lev, D., Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes. Eur. J. Paediatr. Neurol., 2018 https://doi.org/10.1016/j.ejpn.2018.07.003.
Hu, W.F., Chahrour, M.H., Walsh, C.A., The diverse genetic landscape of neurodevelopmental disorders. Annu. Rev. Genom. Hum. Genet. 15 (2014), 195–213 https://doi.org/10.1146/annurev-genom-090413-025600.
Masschaele, D., De Ceuninck, L., Wauman, J., Defever, D., Stenner, F., Lievens, S., Peelman, F., Tavernier, J., RNF41 interacts with the VPS52 subunit of the GARP and EARP complexes. PLoS One, 12, 2017, e0178132 https://doi.org/10.1371/journal.pone.0178132.
Passemard, S., Perez, F., Colin-Lemesre, E., Rasika, S., Gressens, P., El Ghouzzi, V., Golgi trafficking defects in postnatal microcephaly: the evidence for “Golgipathies.”. Prog. Neurobiol. 153 (2017), 46–63 https://doi.org/10.1016/j.pneurobio.2017.03.007.
Perez-Victoria, F.J., Schindler, C., Magadan, J.G., Mardones, G.A., Delevoye, C., Romao, M., Raposo, G., Bonifacino, J.S., Ang 2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex. Mol. Biol. Cell 21 (2010), 3386–3395 https://doi.org/10.1091/mbc.E10-05-0392.
Rasika, S., Passemard, S., Verloes, A., Gressens, P., El Ghouzzi, V., Golgipathies in Neurodevelopment: A New View of Old Defects. 2019, Dev Neurosci in press.
Schindler, C., Chen, Y., Pu, J., Guo, X., Bonifacino, J.S., EARP is a multisubunit tethering complex involved in endocytic recycling. Nat. Cell Biol. 17 (2015), 639–650 https://doi.org/10.1038/ncb3129.
Uwineza, A., Caberg, J.H., Hitayezu, J., Hellin, A.C., Jamar, M., Dideberg, V., Rusingiza, E.K., Bours, V., Mutesa, L., Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies. BMC Med. Genet., 15, 2014, 79 https://doi.org/10.1186/1471-2350-15-79.
van Bokhoven, H., Genetic and epigenetic networks in intellectual disabilities. Annu. Rev. Genet. 45 (2011), 81–104 https://doi.org/10.1146/annurev-genet-110410-132512.
