Contribution of lysosomal gene variants to Parkinson's Disease penetrance in GBA mutation carriers

被引:0
|
作者
Straniero, L. [1 ]
Rimoldi, V. [1 ,2 ]
Bonvegna, S. [3 ]
Melistaccio, G. [1 ]
Solda, G. [1 ,2 ]
Aureli, M. [4 ]
Di Fonzo, A. [5 ,6 ]
Zecchinelli, A. [3 ]
Pezzoli, G. [3 ]
Cilia, R. [7 ]
Duga, S. [1 ,2 ]
Asselta, R. [1 ,2 ]
机构
[1] Humanitas Univ, Milan, Italy
[2] IRCCS, Humanitas Clin & Res Ctr, Milan, Italy
[3] ASST Gaetano Pini CTO, Parkinson Inst, Milan, Italy
[4] Univ Milan, Dept Med Biotechnol ogy & Translat Med, Milan, Italy
[5] Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
[6] Univ Milan, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat, Neurosci Sect, Milan, Italy
[7] Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P09.068.C
引用
收藏
页码:393 / 393
页数:1
相关论文
共 50 条
  • [1] Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
    Anheim, M.
    Elbaz, A.
    Lesage, S.
    Durr, A.
    Condroyer, C.
    Viallet, F.
    Pollak, P.
    Bonaiti, B.
    Bonaiti-Pellie, C.
    Brice, A.
    NEUROLOGY, 2012, 78 (06) : 417 - 420
  • [2] Burden of variants in Parkinson's disease-associated genes in GBA mutation carriers
    Sosero, Y. L.
    Yu, E.
    Saini, P.
    Krohn, L.
    Rudakou, U.
    Ruskey, J.
    Asayesh, F.
    Estiar, M.
    Fahn, S.
    Waters, C.
    Monchi, O.
    Dauvilliers, Y.
    Espay, A.
    Dupre, N.
    Greenbaum, L.
    Rouleau, G.
    Hassin-Baer, S.
    Fon, E.
    Alcalay, R.
    Gan-Or, Z.
    MOVEMENT DISORDERS, 2020, 35 : S212 - S212
  • [3] Structural changes in non-manifesting GBA mutation carriers and GBA mutation carriers with Parkinson's disease
    Yousaf, T.
    Kershaw, M.
    Contreras, V. C. Suarez
    Pagano, G.
    Vickers, P.
    Politis, M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 111 - 111
  • [4] Structural changes in non-manifesting GBA mutation carriers and GBA mutation carriers with Parkinson's disease
    Yousaf, T.
    Kershaw, M.
    Contreras, V. Suarez
    Vickers, P.
    Pagano, G.
    Politis, M.
    MOVEMENT DISORDERS, 2019, 34 : S842 - S842
  • [5] Gait Analysis of GBA Mutation Carriers with Parkinson's Disease
    Gera, Anjali
    O'Keefe, Joan
    Ouyang, Bichun
    Pal, Gian
    NEUROLOGY, 2019, 92 (15)
  • [6] Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk
    Straniero, Letizia
    Rimoldi, Valeria
    Monfrini, Edoardo
    Bonvegna, Salvatore
    Melistaccio, Giada
    Lake, Julie
    Solda, Giulia
    Aureli, Massimo
    Shankaracharya
    Keagle, Pamela
    Foroud, Tatiana
    Landers, John E.
    Blauwendraat, Cornelis
    Zecchinelli, Anna
    Cilia, Roberto
    Di Fonzo, Alessio
    Pezzoli, Gianni
    Duga, Stefano
    Asselta, Rosanna
    MOVEMENT DISORDERS, 2022, 37 (06) : 1202 - 1210
  • [7] GBA mutation carriers with Parkinson's disease are not at increased risk for cognitive impairment
    Mata, I.
    Leverenz, J.
    Trojanowski, J.
    Chen-Plotkin, A.
    Ritz, B.
    Rhodes, S.
    Factor, S.
    Wood-Siverio, C.
    Quinn, J.
    Chung, K.
    Espay, A.
    Revilla, F.
    Edwards, K.
    Montine, T.
    Zabetian, C.
    MOVEMENT DISORDERS, 2012, 27 : S25 - S26
  • [8] Balance and gait analysis of GBA mutation carriers with Parkinson's disease (PD)
    Gera, A.
    Okeefe, J.
    Purcell, N.
    Huml, C.
    Ruehl, S.
    Ouyang, B.
    Pal, G.
    MOVEMENT DISORDERS, 2018, 33 : S603 - S603
  • [9] Blood lysosomal activities in Parkinson's disease associated with mutations in the GBA gene
    Bezrukova, A.
    Bogdanova, D.
    Basharova, K.
    Senkevich, K.
    Miliukhinav, I.
    Zakharova, E.
    Pchelina, S.
    Usenko, T.
    EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 625 - 625
  • [10] Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease
    Surface, Matthew
    Balwani, Manisha
    Waters, Cheryl
    Haimovich, Alexander
    Gan-Or, Ziv
    Marder, Karen S.
    Hsieh, Tammy
    Song, Linxia
    Padmanabhan, Shalini
    Hsieh, Frank
    Merchant, Kalpana M.
    Alcalay, Roy N.
    MOVEMENT DISORDERS, 2022, 37 (02) : 416 - 421