GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters

被引：0
|
作者：
Carolin Gabbert
Susen Schaake
Theresa Lüth
Christoph Much
Christine Klein
Jan O. Aasly
Matthew J. Farrer
Joanne Trinh
机构：
[1] University of Lübeck,Institute of Neurogenetics
[2] Norwegian University of Science and Technology,Department of Neuromedicine and Movement Science
[3] University of Florida,Department of Neurology
来源：
BMC Genomics | / 24卷
关键词：
Parkinson’s disease; Variants; Nanopore sequencing; Risk factor;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [41] Mild cognitive impairment among LRRK2 and GBA1 patients with Parkinson's disease
    Thaler, Avner
    Livne, Vered
    Rubinstein, Einat
    Omer, Nurit
    Faust-Socher, Achinoam
    Cohen, Batsheva
    Giladi, Nir
    Shirvan, Julia C.
    Cedarbaum, Jesse M.
    Gana-Weisz, Mali
    Goldstein, Orly
    Orr-Urtreger, Avi
    Alcalay, Roy N.
    Mirelman, Anat
    PARKINSONISM & RELATED DISORDERS, 2024, 123
  • [42] Prodromal Parkinsonian features in carriers of GBA1 variant(s) compared to controls
    Becker-Cohen, Michal
    Revel-Vilk, Shoshana
    Dinur, Tama
    Arkadir, David
    Shulman, Elena
    Zimran, Ari
    MOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 15 - 16
  • [43] First clinicogenetic description of Parkinson's disease related to S107L GBA1 mutation
    Hertz, E.
    Thornqvist, M.
    Holmberg, B.
    Machaczka, M.
    Sidransky, E.
    Svenningsson, P.
    EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 192 - 192
  • [44] A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
    den Heijer, Jonas M.
    Cullen, Valerie C.
    Quadri, Marialuisa
    Schmitz, Arnoud
    Hilt, Dana C.
    Lansbury, Peter
    Berendse, Henk W.
    van de Berg, Wilma D. J.
    de Bie, Rob M. A.
    Boertien, Jeffrey M.
    Boon, Agnita J. W.
    Contarino, M. Fiorella
    van Hilten, Jacobus J.
    Hoff, Jorrit, I
    van Mierlo, Tom
    Munts, Alex G.
    van der Plas, Anne A.
    Ponsen, Mirthe M.
    Baas, Frank
    Majoor-Krakauer, Danielle
    Bonifati, Vincenzo
    van Laar, Teus
    Groeneveld, Geert J.
    MOVEMENT DISORDERS, 2020, 35 (09) : 1667 - 1674
  • [45] Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids
    Frattini, Emanuele
    Faustini, Gaia
    Lopez, Gianluca
    Carsana, Emma Veronica
    Tosi, Mattia
    Trezzi, Ilaria
    Magni, Manuela
    Solda, Giulia
    Straniero, Letizia
    Facchi, Daniele
    Samarani, Maura
    Marta-Ariza, Mitchell
    De Luca, Chiara Maria Giulia
    Vezzoli, Elena
    Pittaro, Alessandra
    Stepanyan, Astghik
    Silipigni, Rosamaria
    Rosety, Isabel
    Schwamborn, Jens C.
    Sardi, Sergio Pablo
    Moda, Fabio
    Corti, Stefania
    Comi, Giacomo P.
    Blandini, Fabio
    Tritsch, Nicolas X.
    Bortolozzi, Mario
    Ferrero, Stefano
    Cribiu, Fulvia Milena
    Wisniewski, Thomas
    Asselta, Rosanna
    Aureli, Massimo
    Bellucci, Arianna
    Di Fonzo, Alessio
    BRAIN, 2025,
  • [46] Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease
    Lopez, Grisel J.
    Lichtenberg, Jens
    Tayebi, Nahid
    Ryan, Emory
    Lecker, Abigail L.
    Sidransky, Ellen
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [47] Motor scores and sleep survey in GBA1 mutation carriers at risk for Parkinson Disease
    Rios, Andrea Otero
    Steward, Alta
    Patel, Nishka
    Lindstrom, Taylor
    Seid, Raya
    Tayebi, Nahid
    Sidransky, Ellen
    Lopez, Grisel
    NEUROLOGY, 2020, 94 (15)
  • [48] A newly implemented NGS-based method to detect GBA1 variants in patients with Parkinson's disease
    Monfrini, E.
    Palmieri, I.
    Cuconato, G.
    Percetti, M.
    Cortelli, P.
    Di Fonzo, A.
    Valente, E. M.
    MOVEMENT DISORDERS, 2023, 38 : S484 - S484
  • [49] Cognitive Effects of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease with GBA1 Pathogenic Variants
    Pal, Gian D.
    Corcos, Daniel M.
    Metman, Leo Verhagen
    Israel, Zvi
    Bergman, Hagai
    Arkadir, David
    MOVEMENT DISORDERS, 2023, 38 (12) : 2155 - 2162
  • [50] Lysosomal Pathogenesis of Parkinson’s Disease: Insights From LRRK2 and GBA1 Rodent Models
    Mattia Volta
    Neurotherapeutics, 2023, 20 (1) : 127 - 139
12345