Skip to main content

Publications

Learn more about the work we do in the Lubbe Laboratory through our recent publications.

  1. Gonzalez-Latapi P, Bustos B, Dong S, Lubbe S, Simuni T, Krainc D  Alterations in Blood Methylome as Potential Epigenetic Biomarker in Sporadic Parkinson's Disease.  Ann Neurol  2024 Jun;95(6):1162-1172. doi:10.1002/ana.26923
  2. Belur NR, Bustos BI, Lubbe SJ, Mazzulli JR  Nuclear aggregates of NONO/SFPQ and A-to-I-edited RNA in Parkinson's disease and dementia with Lewy bodies.  Neuron  2024 May 16;. pii:S0896-6273(24)00328-3
  3. Owen GI, Cordova-Delgado M, Bustos BI, Cerpa LC, Gonzalez P, Morales-Pison S, Garcia-Bloj B, Garrido M, Miquel JF, Quiñones LA  Assessing the Occurrence and Influence of Cancer Chemotherapy-Related Pharmacogenetic Alleles in the Chilean Population.  Pharmaceutics  2024 Apr 19;16(4). pii:561
  4. Keller Sarmiento IJ, Bustos BI, Blackburn J, Hac NEF, Ruzhnikov M, Monroe M, Levy RJ, Kinsley L, Li M, Silani V  et al.  De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.  Mov Disord  2024 Apr 04;. doi:10.1002/mds.29791
  5. Zollner L, Boekstegers F, Barahona Ponce C, Scherer D, Marcelain K, Gárate-Calderón V, Waldenberger M, Morales E, Rojas A, Munoz C  et al.  Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers.  Cancers (Basel)  2023 Aug 09;15(16). pii:4033
  6. Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D  et al.  Variants in ATP5F1B are associated with dominantly inherited dystonia.  Brain  2023 Jul 03;146(7):2730-2738. doi:10.1093/brain/awad068
  7. Leonard HL, Murtadha R, Martinez-Carrasco A, Jama A, Müller-Nedebock AC, Gil-Martinez AL, Illarionova A, Moore A, Bustos BI, Jadhav B  et al.  Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data.  NPJ Parkinsons Dis  2023 May 24;9(1):77. pii:77
  8. Senkevich K, Bandres-Ciga S, Cisterna-García A, Yu E, Bustos BI, Krohn L, Lubbe SJ, Botía JA, , Gan-Or Z  Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson's disease.  medRxiv  2023 Apr 15;. pii:2023.04.14.23288478
  9. Leonard HL, Murtadha R, Martinez-Carrasco A, Jama A, Müller-Nedebock AC, Gil-Martinez AL, Illarionova A, Moore A, Bustos BI, Jadhav B  et al.  The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data.  NPJ Parkinsons Dis  2023 Mar 04;9(1):33. pii:33
  10. Krainc T, Monje MHG, Kinsinger M, Bustos BI, Lubbe SJ  Melanin and Neuromelanin: Linking Skin Pigmentation and Parkinson's Disease.  Mov Disord  2023 Feb;38(2):185-195. doi:10.1002/mds.29260
  11. Bustos BI, Billingsley K, Blauwendraat C, Gibbs JR, Gan-Or Z, Krainc D, Singleton AB, Lubbe SJ,   Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk.  Brain  2023 Jan 05;146(1):65-74. doi:10.1093/brain/awac301
  12. Hu J, Waters CH, Spiegelman D, Fon EA, Yu E, Asayesh F, Krohn L, Saini P, Alcalay RN, Hassin-Baer S  et al.  Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent.  Neurobiol Aging  2022 Nov;119:136-138. doi:10.1016/j.neurobiolaging.2022.07.012
  13. Simkin D, Papakis V, Bustos BI, Ambrosi CM, Ryan SJ, Baru V, Williams LA, Dempsey GT, McManus OB, Landers JE  et al.  Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls.  Stem Cell Reports  2022 Apr 12;17(4):993-1008. doi:10.1016/j.stemcr.2022.02.008
  14. Zorzi G, Keller Sarmiento IJ, Danti FR, Bustos BI, Invernizzi F, Panteghini C, Reale C, Garavaglia B, Chiapparini L, Lubbe SJ  et al.  YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.  Mov Disord  2021 Jun;36(6):1461-1462. doi:10.1002/mds.28547
  15. Bustos BI, Bandres-Ciga S, Gibbs JR, Krainc D, Mencacci NE, Gan-Or Z, Lubbe SJ,   Replication assessment of NUS1 variants in Parkinson's disease.  Neurobiol Aging  2021 May;101:300.e1-300.e3. doi:10.1016/j.neurobiolaging.2020.11.007
  16. Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A  et al.  MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.  Ann Neurol  2021 Apr;89(4):828-833. doi:10.1002/ana.26019
  17. Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM  et al.  Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.  Hum Mol Genet  2021 Mar 25;30(1):78-86. doi:10.1093/hmg/ddaa273
  18. Simkin D, Marshall KA, Vanoye CG, Desai RR, Bustos BI, Piyevsky BN, Ortega JA, Forrest M, Robertson GL, Penzes P  et al.  Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.  Elife  2021 Feb 05;10. pii:e64434
  19. Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R  et al.  Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.  Ann Neurol  2020 Nov;88(5):867-877. doi:10.1002/ana.25879