A recurrent variant in the SOD1 gene - is a frequent pathogenic or a rare benign variant?

被引:0
|
作者
Shatokhina, Olga [1 ]
Kanivets, Ilya [2 ]
Pyankov, Denis [2 ]
Konovalov, Fedor [3 ]
Ryzhkova, Oksana [1 ]
机构
[1] Fed State Budgetary Inst Med Genet Res Ctr, Shared Resource Ctr SRC Genome, Moscow, Russia
[2] Genomed Ltd, Moscow, Russia
[3] Independent Clin Bioinformat Lab, Moscow, Russia
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
P11.021.D
引用
收藏
页码:507 / 508
页数:2
相关论文
共 50 条
  • [1] Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities
    Muratet, Francois
    Teyssou, Elisa
    Chiot, Aude
    Boillee, Severine
    Lobsiger, Christian S.
    Bohl, Delphine
    Gyorgy, Beata
    Guegan, Justine
    Marie, Yannick
    Amador, Maria del Mar
    Salachas, Francois
    Meininger, Vincent
    Bernard, Emilien
    Antoine, Jean-Christophe
    Camdessanche, Jean-Philippe
    Camu, William
    Cazeneuve, Cecile
    Fauret-Amsellem, Anne-Laure
    Leguern, Eric
    Mouzat, Kevin
    Guissart, Claire
    Lumbroso, Serge
    Corcia, Philippe
    Vourc'h, Patrick
    Grapperon, Aude-Marie
    Attarian, Shahram
    Verschueren, Annie
    Seilhean, Danielle
    Millecamps, Stephanie
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2021, 92 (09): : 942 - 949
  • [2] Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome
    Dogan, Mustafa
    Terali, Kerem
    Eroz, Recep
    Kilic, Hueseyin
    Gezdirici, Alper
    Gonullu, Burcin
    MOLECULAR BIOLOGY REPORTS, 2024, 51 (01)
  • [3] Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
    Ezer, Shlomit
    Daana, Muhannad
    Park, Julien H.
    Yanovsky-Dagan, Shira
    Nordstrom, Ulrika
    Basal, Adily
    Edvardson, Simon
    Saada, Ann
    Otto, Markus
    Meiner, Vardiella
    Marklund, Stefan L.
    Andersen, Peter Munch
    Harel, Tamar
    BRAIN, 2022, 145 (03) : 872 - 878
  • [4] Body mass index is lower in presymptomatic C9orf72 pathogenic variant carriers compared to presymptomatic SOD1 pathogenic variant carriers and gene-negative controls
    Lee, Ikjae
    Garret, Mark
    Wu, Joanne
    Harrington, Elizabeth
    Berry, James
    Miller, Timothy
    Harms, Matthew
    Benatar, Michael
    Shneider, Neil
    MUSCLE & NERVE, 2023, 68 : S78 - S78
  • [5] Destabilization of ALS-variant SOD1 via metal transfer to wild-type SOD1
    Zahler, Collin
    Baumer, Katelyn
    Shaw, Bryan
    ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, 2019, 258
  • [6] SOD1 Gene
    Nithya, K.
    Angeline, T.
    Isabel, W.
    Asirvatham, A. J.
    GENETICS RESEARCH INTERNATIONAL, 2016, 2016
  • [7] Structural and Biophysical Properties of the Pathogenic SOD1 Variant H46R/H48Q
    Winkler, Duane D.
    Schuermann, Jonathan P.
    Cao, Xiaohang
    Holloway, Stephen P.
    Borchelt, David R.
    Carroll, Mark C.
    Proescher, Jody B.
    Culotta, Valeria C.
    Hart, P. John
    BIOCHEMISTRY, 2009, 48 (15) : 3436 - 3447
  • [8] Pathogenic R163W Variant of the Copper Chaperone for Sod1 (Ccs) Functions as an Anti-chaperone
    Zhang, Bei
    Boyd, Stefanie D.
    Zhabilov, Dannie
    Ullrich, Morgan
    Blackburn, Ninian J.
    Winkler, Duane D.
    BIOCHEMISTRY, 2024, 63 (16) : 2051 - 2062
  • [9] A Case of Rapidly Progressive Juvenile-Onset Amyotrophic Lateral Sclerosis with a rare SOD1 genetic variant
    De La Torre, Alejandro
    Shah, Shailee
    Rao, Vamshi
    NEUROLOGY, 2019, 92 (15)
  • [10] A rare homozygous IGFALS gene pathogenic variant: a case report
    Della Pia, Belen
    Colombres, Maria Jose
    Insua, Claudia
    Scaglia, Paula Alejandra
    Azcoiti, Maria Esnaola
    Brunetto, Oscar
    Hernandez, Claudia
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 (SUPPL 2): : 170 - 170