Clinical Laboratory Experience of Frataxin Quantification in Blood for the Diagnosis of Friedreich Ataxia

被引:0
|
作者
Pantovich, Iris [1 ,2 ]
White, Amy [2 ]
Studinski, April [2 ]
Mu, Weiyi [3 ]
Kaas, Bonnie [4 ]
Bower, Matthew [5 ]
Pino, Gisele Bentz [2 ]
Peck, Dawn [2 ]
Salsbery, Kyle [2 ]
Lauer, Emily [2 ]
Pickart, Angela [2 ]
Rumilla, Kandelaria [2 ]
Shen, Wei [2 ]
Niu, Zhiyv [2 ]
Hall, Patricia [2 ]
Schultz, Matthew [2 ]
Gavrilov, Dimitar [2 ]
Tortorelli, Silvia [2 ]
Matern, Dietrich [2 ]
Gavrilova, Ralitza [6 ]
Oglesbee, Devin
机构
[1] Univ Minnesota, Genet Counseling Program, Minneapolis, MN USA
[2] Mayo Clin, Lab Med & Pathol, Rochester, MN USA
[3] Johns Hopkins Univ, Genet Med, Baltimore, MD USA
[4] Ascens Med Grp, Neurol, Baltimore, MD USA
[5] M Hlth Fairview Univ Minnesota Med Ctr, Genet Counseling, Minneapolis, MN USA
[6] Mayo Clin, Neurol, Rochester, MN USA
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
P12.013.D
引用
收藏
页码:1523 / 1524
页数:2
相关论文
共 50 条
  • [21] Frataxin gene point mutations in Italian Friedreich ataxia patients
    Cinzia Gellera
    Barbara Castellotti
    Caterina Mariotti
    Rossana Mineri
    Viviana Seveso
    Stefano DiDonato
    Franco Taroni
    Neurogenetics, 2007, 8 : 289 - 299
  • [22] Selected missense mutations impair frataxin processing in Friedreich ataxia
    Clark, Elisia
    Butler, Jill S.
    Isaacs, Charles J.
    Napierala, Marek
    Lynch, David R.
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2017, 4 (08): : 575 - 584
  • [23] Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies
    Gonzalez-Cabo, Pilar
    Vicente Llorens, Jose
    Palau, Francesc
    Dolores Molto, Maria
    INHERITED NEUROMUSCULAR DISEASES: TRANSLATION FROM PATHMECHANISMS TO THERAPIES, 2009, 652 : 247 - 261
  • [25] Frataxin gene point mutations in Italian Friedreich ataxia patients
    Gellera, Cinzia
    Castellotti, Barbara
    Mariotti, Caterina
    Mineri, Rossana
    Seveso, Viviana
    DiDonato, Stefano
    Taroni, Franco
    NEUROGENETICS, 2007, 8 (04) : 289 - 299
  • [27] Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial
    Mariotti, Caterina
    Fancellu, Roberto
    Caldarazzo, Serena
    Nanetti, Lorenzo
    Di Bella, Daniela
    Plumari, Massimo
    Lauria, Giuseppe
    Cappellini, Maria D.
    Duca, Lorena
    Solari, Alessandra
    Taroni, Franco
    MOVEMENT DISORDERS, 2012, 27 (03) : 446 - 449
  • [28] Frataxin deficiency and the pathology of Friedreich's Ataxia across tissues
    Ercanbrack, Wesley S.
    Ramirez, Mateo
    Dungan, Austin
    Gaul, Ella
    Ercanbrack, Sarah J.
    Wingert, Rebecca A.
    TISSUE BARRIERS, 2025,
  • [29] Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
    Campuzano, V
    Montermini, L
    Lutz, Y
    Cova, L
    Hindelang, C
    Jiralerspong, S
    Trottier, Y
    Kish, SJ
    Faucheux, B
    Trouillas, P
    Authier, FJ
    Durr, A
    Mandel, JL
    Vescovi, A
    Pandolfo, M
    Koenig, M
    HUMAN MOLECULAR GENETICS, 1997, 6 (11) : 1771 - 1780
  • [30] A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia
    Deutsch, Eric C.
    Santani, Avni B.
    Perlman, Susan L.
    Farmer, Jennifer M.
    Stolle, Catherine A.
    Marusich, Michael F.
    Lynch, David R.
    MOLECULAR GENETICS AND METABOLISM, 2010, 101 (2-3) : 238 - 245