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Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Among authors: bustos bi. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
Replication assessment of NUS1 variants in Parkinson's disease.
Bustos BI, Bandres-Ciga S, Gibbs JR, Krainc D, Mencacci NE, Gan-Or Z, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC). Bustos BI, et al. Neurobiol Aging. 2021 May;101:300.e1-300.e3. doi: 10.1016/j.neurobiolaging.2020.11.007. Epub 2020 Nov 13. Neurobiol Aging. 2021. PMID: 33309333 Free PMC article.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. Meng L, et al. Among authors: bustos bi. Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8. Ann Neurol. 2021. PMID: 33443317 Free article.
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR; for International Parkinson’s Disease Genomics Consortium (IPDGC). Lubbe SJ, et al. Among authors: bustos bi. Hum Mol Genet. 2021 Mar 25;30(1):78-86. doi: 10.1093/hmg/ddaa273. Hum Mol Genet. 2021. PMID: 33448283 Free PMC article.
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
Zorzi G, Keller Sarmiento IJ, Danti FR, Bustos BI, Invernizzi F, Panteghini C, Reale C, Garavaglia B, Chiapparini L, Lubbe SJ, Nardocci N, Mencacci NE. Zorzi G, et al. Among authors: bustos bi. Mov Disord. 2021 Jun;36(6):1461-1462. doi: 10.1002/mds.28547. Epub 2021 Feb 27. Mov Disord. 2021. PMID: 33638881 No abstract available.
Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls.
Simkin D, Papakis V, Bustos BI, Ambrosi CM, Ryan SJ, Baru V, Williams LA, Dempsey GT, McManus OB, Landers JE, Lubbe SJ, George AL Jr, Kiskinis E. Simkin D, et al. Among authors: bustos bi. Stem Cell Reports. 2022 Apr 12;17(4):993-1008. doi: 10.1016/j.stemcr.2022.02.008. Epub 2022 Mar 10. Stem Cell Reports. 2022. PMID: 35276091 Free PMC article.
Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent.
Hu J, Waters CH, Spiegelman D, Fon EA, Yu E, Asayesh F, Krohn L, Saini P, Alcalay RN, Hassin-Baer S, Gan-Or Z, Krainc D, Zhang B, Bustos BI, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC). Hu J, et al. Among authors: bustos bi. Neurobiol Aging. 2022 Nov;119:136-138. doi: 10.1016/j.neurobiolaging.2022.07.012. Epub 2022 Jul 31. Neurobiol Aging. 2022. PMID: 36305379
26 results