COQ6 AND COQ2 MUTATIONS ASSOCIATED WITH STEROID RESISTANT NEPHROTIC SYNDROME

被引:0
|
作者
Gigante, Maddalena [1 ]
Diella, Sterpeta [1 ]
Santangelo, Luisa
Amatruda, Ottavio
Caridi, Gianluca
Murer, Luisa
Accetturo, Matteo
Grandaliano, Giuseppe
Giordano, Mario
Salviati, Leonardo [2 ,3 ]
Gesualdo, Loreto [4 ]
机构
[1] Univ Foggia, Med & Surg Sci, Foggia, Italy
[2] Univ Padua, Pediat, Padua, Italy
[3] IRP Citta Speranza, Padua, Italy
[4] Univ Aldo Moro, Nephrol Dialysis & Transplantat Unit, Bari, Italy
关键词
D O I
暂无
中图分类号
R3 [基础医学]; R4 [临床医学];
学科分类号
1001 ; 1002 ; 100602 ;
摘要
SP021
引用
收藏
页码:110 / 112
页数:3
相关论文
共 50 条
  • [41] COQ2 gene variant associates with multiple system atrophy
    Lin, Chin-Hsien
    Tan, Eng-King
    Yang, Chih-Chao
    Lin, Han-I
    Wu, Ruey-Meei
    MOVEMENT DISORDERS, 2014, 29 : S84 - S85
  • [42] Mutant COQ2 in Multiple-System Atrophy REPLY
    Mitsui, Jun
    Tsuji, Shoji
    NEW ENGLAND JOURNAL OF MEDICINE, 2014, 371 (01): : 82 - 83
  • [43] Association Analysis of COQ2 Variant in Dementia and Essential Tremor
    Chao, Yin Xia
    Ng, Ebonne Yu Lin
    Li, Huihua
    Nagaendran, Kandiah
    Yih, Yuen
    Chong, Mei Sian
    Prakash, Kumar M.
    Tan, Louis
    Au, Wing Lok
    Zhao, Yi
    Zhou, Zhi Dong
    Tio, Murni
    Pavanni, Ratnagopal
    Tan, Eng King
    PARKINSONS DISEASE, 2015, 2015
  • [44] Mitochondria Matter: A Critical Role of ADCK4 in Stabilizing the CoQ Complex in Podocytes in Steroid-Resistant Nephrotic Syndrome
    Daehn, Ilse S.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2020, 31 (06): : 1167 - 1169
  • [45] Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy
    Yasuda, Tsutomu
    Matsukawa, Takashi
    Mitsui, Jun
    Tsuji, Shoji
    NEUROGENETICS, 2019, 20 (01) : 51 - 52
  • [46] COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree
    Li, Min
    Yue, Zhihui
    Lin, Hongrong
    Wang, Haiyan
    Chen, Huamu
    Sun, Liangzhong
    RENAL FAILURE, 2021, 43 (01) : 97 - 101
  • [47] A novel mutation in COQ2 leading to fatal infantile multisystem disease
    Jakobs, Bernadette S.
    van den Heuvel, Lambert P.
    Smeets, Roel J. P.
    de Vries, Maaike C.
    Hien, Steffen
    Schaible, Thomas
    Smeitink, Jan A. M.
    Wevers, Ron A.
    Wortmann, Saskia B.
    Rodenburg, Richard J. T.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2013, 326 (1-2) : 24 - 28
  • [48] NPHS 2 Mutations in Children With Steroid-Resistant Nephrotic Syndrome
    Rahiminia, A.
    Otukesh, H.
    Ghazanfari, B.
    Fereshtehnejad, S. M.
    Salami, A.
    Mehdipor, L.
    Hoseini, R.
    Chalian, M.
    EUROPEAN JOURNAL OF MEDICAL RESEARCH, 2009, 14 : 60 - 60
  • [49] Gene Mutations and Steroid-Resistant Nephrotic Syndrome
    Mahdavi-Mazdeh, Mitra
    IRANIAN JOURNAL OF KIDNEY DISEASES, 2013, 7 (05) : 335 - 336
  • [50] Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Qw deficiency
    Doimo, Mara
    Trevisson, Eva
    Airik, Rannar
    Bergdoll, Marc
    Santos-Ocana, Carlos
    Hildebrandt, Friedhelm
    Navas, Placido
    Pierrel, Fabien
    Salviati, Leonardo
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2014, 1842 (01): : 1 - 6