Pathological RyR1 Mutations to Identify RyR1 Functional Domains

被引:0
|
作者
Cacheux, Marine
Faure, Julien
Brocard, Julie
Monnier, Nicole
Lunardi, Joel
Marty, Isabelle
机构
关键词
D O I
暂无
中图分类号
Q6 [生物物理学];
学科分类号
071011 ;
摘要
引用
收藏
页码:592 / 593
页数:2
相关论文
共 50 条
  • [41] Functional Characterization of Endogenously Expressed Human RYR1 Variants
    Treves, Susan
    Girard, Thierry
    Zorzato, Francesco
    JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, 2021, (172):
  • [42] The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
    Knuiman, G. J.
    Kusters, B.
    Eshuis, L.
    Snoeck, M.
    Lammens, M.
    Heytens, L.
    De Ridder, W.
    Baets, J.
    Scalco, R. S.
    Quinlivan, R.
    Holton, J.
    Bodi, I.
    Wraige, E.
    Radunovic, A.
    von Landenberg, C.
    Reimann, J.
    Kamsteeg, E. -J.
    Sewry, C.
    Jungbluth, H.
    Voermans, N. C.
    JOURNAL OF NEUROLOGY, 2019, 266 (04) : 876 - 887
  • [43] The RYR1 genotype of two inbred pigs
    Liu, J
    Li, Y
    Cheng, J
    Bu, H
    Lu, X
    Zeng, Y
    Feng, S
    XENOTRANSPLANTATION, 2001, 8 : 129 - 130
  • [44] Structure of RYR1 at 14 angstrom resolution
    Serysheva, II
    Ludtke, SJ
    Hamilton, SL
    Chiu, W
    BIOPHYSICAL JOURNAL, 2004, 86 (01) : 242A - 242A
  • [45] Therapy development for RYR1 related myopathies
    Onofre-Oliveira, P.
    Brennan, S.
    Volpatti, J.
    Garcia-Castaneda, M.
    Michelucci, A.
    Groom, L.
    Sabha, N.
    Dirksen, R.
    Dowling, J.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S136 - S136
  • [46] Coordinated Movement of Cytoplasmic and Transmembrane Domains of RyR1 upon Gating
    Samso, Montserrat
    Feng, Wei
    Pessah, Isaac N.
    Allen, P. D.
    PLOS BIOLOGY, 2009, 7 (04) : 980 - 995
  • [47] Allosteric Modulation of RyR1 with Nucleotide Analogs
    Cholak, Spencer
    Saville, James
    Zhu, Xing
    Berezuk, Alison
    Haji-Ghassemi, Omid
    Tuttle, Katharine
    Van Petegem, Filip
    Subramaniam, Sriram
    PROTEIN SCIENCE, 2023, 32
  • [48] RYR1 Mutations Are a Common Cause of Congenital Myopathies with Central Nuclei
    Wilmshurst, J. M.
    Lillis, S.
    Zhou, H.
    Pillay, K.
    Henderson, H.
    Kress, W.
    Mueller, C. R.
    Ndondo, A.
    Cloke, V.
    Cullup, T.
    Bertini, E.
    Boennemann, C.
    Straub, V.
    Quinlivan, R.
    Dowling, J. J.
    Al-Sarraj, S.
    Treves, S.
    Abbs, S.
    Manzur, A. Y.
    Sewry, C. A.
    Muntoni, F.
    Jungbluth, H.
    ANNALS OF NEUROLOGY, 2010, 68 (05) : 717 - 726
  • [49] DETECTION OF MUTATIONS IN THE RYR1 GENE IN MALIGNANT HYPERTHERMIA SUSCEPTIBLE PERSONS
    ADEOKUN, AM
    ELLIS, FR
    HOPKINS, PM
    HALSALL, PJ
    CURRAN, J
    STEWART, AD
    WEST, SP
    JOURNAL OF MEDICAL GENETICS, 1995, 32 (02) : 155 - 155
  • [50] Review of RyR1 pathway and associated pathomechanisms
    Jessica W. Witherspoon
    Katherine G. Meilleur
    Acta Neuropathologica Communications, 4