New FIG4 gene mutations causing aggressive ALS

被引:17
|
作者
Bertolin, C. [1 ]
Querin, G. [1 ]
Bozzoni, V. [1 ]
Martinelli, I. [1 ]
De Bortoli, M. [2 ]
Rampazzo, A. [2 ]
Gellera, C. [3 ]
Pegoraro, E. [1 ]
Soraru, G. [1 ]
机构
[1] Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy
[2] Univ Padua, Dept Biol, Padua, Italy
[3] IRCCS Fdn, C Besta Neurol Inst, Dept Clin Neurosci, Clin Cent & Peripheral Degenerat Neuropathies Uni, Milan, Italy
关键词
amyotrophic lateral sclerosis; FIG4; mutation; PHOSPHOINOSITIDE PHOSPHATASE; VARIANTS;
D O I
10.1111/ene.13559
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:E41 / E42
页数:2
相关论文
共 50 条
  • [41] Gene Mutations provide new Insights into the Pathophysiology of ALS
    Klein, Friederike
    FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE, 2020, 88 (05) : 293 - +
  • [42] Impaired Lysosomal Fission, a Mechanism of Abnormal Lysosomal Storage in FIG4 Deficiency
    Zou, Jianlong
    Hu, Bo
    Arpag, Sezgi
    Hamilton, Audra
    Nashville, Jun Li.
    ANNALS OF NEUROLOGY, 2014, 76 : S117 - S117
  • [43] FIG4 loss of function: Unraveling the phenotypic spectrum for clinical trial readiness
    Boyek, G.
    Orbach, R.
    Gottlieb, K.
    Duff, J.
    Lenk, G.
    Bonnemann, C.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [44] Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration
    Ferguson, C. J.
    Lenk, G. M.
    Jones, J. M.
    Grant, A. E.
    Winters, J. J.
    Dowling, J. J.
    Giger, R. J.
    Meisler, Miriam H.
    HUMAN MOLECULAR GENETICS, 2012, 21 (16) : 3525 - 3534
  • [45] OLIGODENDROCYTE MATURATION AND PROPER CNS MYELINATION REQUIRE THE LIPID PHOSPHATASE FIG4
    Winters, J.
    Lenk, G.
    Giger-Mateeva, V
    Shrager, P.
    Meisler, M.
    Giger, R.
    GLIA, 2011, 59 : S65 - S65
  • [46] Fig4 Influences Cellular Homeostasis Through MAP Kinase Related Pathways
    Dotson, Lauren
    Lloyd, Bonnie
    King, Anna
    Thomas, Asha
    Strunk, Bethany
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2024, 300 (03) : S711 - S711
  • [47] Dysregulated miRNA biogenesis downstream of cellular stress and ALS-causing mutations: a new mechanism for ALS
    Emde, Anna
    Eitan, Chen
    Liou, Lee-Loung
    Libby, Ryan T.
    Rivkin, Natali
    Magen, Iddo
    Reichenstein, Irit
    Oppenheim, Hagar
    Eilam, Raya
    Silvestroni, Aurelio
    Alajajian, Betty
    Ben-Dov, Iddo Z.
    Aebischer, Julianne
    Savidor, Alon
    Levin, Yishai
    Sons, Robert
    Hammond, Scott M.
    Ravits, John M.
    Moeller, Thomas
    Hornstein, Eran
    EMBO JOURNAL, 2015, 34 (21): : 2633 - 2651
  • [48] Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease
    Menezes, Manoj P.
    Waddell, Leigh
    Lenk, Guy M.
    Kaur, Simranpreet
    MacArthur, Daniel G.
    Meisler, Miriam H.
    Clarke, Nigel F.
    NEUROMUSCULAR DISORDERS, 2014, 24 (08) : 666 - 670
  • [49] A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade
    Gentil, Benoit J.
    O'Ferrall, Erin
    Chalk, Colin
    Santana, Luis F.
    Durham, Heather D.
    Massie, Rami
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2017, 76 (09): : 789 - 799
  • [50] UP-REGULATION OF FACTOR-INDUCED GENE 4 (FIG4) BY ELECTRICAL STIMULATION ENHANCES NEURAL DIFFERENTIATION IN HUMAN CUTANEOUS WOUNDS
    Sebastian, A.
    Halai, P.
    Colthurst, J.
    Bayat, A.
    WOUND REPAIR AND REGENERATION, 2015, 23 (02) : A38 - A39