A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

被引：0
|
作者：
Quinzii, CM
Naini, A
Salviati, L
Trevisson, E
Navas, P
DiMauro, S
Hirano, M
机构：
来源：
NEUROLOGY | 2006年 / 66卷 / 05期
关键词：
D O I：
暂无
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：A127 / A127
页数：1
相关论文
共 50 条
  • [1] A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
    Quinzii, C
    Naini, A
    Salviati, L
    Trevisson, E
    Navas, P
    DiMauro, S
    Hirano, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (02) : 345 - 349
  • [2] INFANTILE MYOCLONIC EPILEPSY, AND NEPHROTIC SYNDROME: PRIMARY COENZYME Q10 DEFICIENCY WITH MUTATION IN PARA-HYDROXYBENZOATE-POLYPRENYL TRANSFERASE (COQ2)
    De Meirleir, L.
    Scalais, E.
    Chafai, R.
    Nuttin, C.
    Panagiotaraki, C.
    Mataigne, F.
    Garcia-Villonia, J.
    Arias, A.
    Ribes, A. A.
    Lissens, W.
    Smet, J.
    Van Coster, R.
    Seneca, S.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S164 - S164
  • [3] A NOVEL MUTATION IN THE COQ2 GENE CAUSES PRIMARY COENZYME, Q10 DEFICIENCY
    Jakobs, B. S.
    Smeets, R. J.
    Rodenburg, R.
    Cremer, F. W.
    Smeitink, J. A. M.
    van den Heuvel, I. P.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 91 - 91
  • [4] Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
    Scalais, Emmanuel
    Chafai, Ronit
    Van Coster, Rudy
    Bindl, Lutz
    Nuttin, Christian
    Panagiotaraki, Chryssa
    Seneca, Sara
    Lissens, Willy
    Ribes, Antonia
    Geers, Caroline
    Smet, Joel
    De Meirleir, Linda
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2013, 17 (06) : 625 - 630
  • [5] The COQ2 genotype predicts the severity of coenzyme Q10 deficiency
    Desbats, Maria Andrea
    Morbidoni, Valeria
    Silic-Benussi, Micol
    Doimo, Mara
    Ciminale, Vincenzo
    Cassina, Matteo
    Sacconi, Sabrina
    Hirano, Michio
    Basso, Giuseppe
    Pierrel, Fabien
    Navas, Placido
    Salviati, Leonardo
    Trevisson, Eva
    HUMAN MOLECULAR GENETICS, 2016, 25 (19) : 4256 - 4265
  • [6] Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation
    Eroglu, Fehime K.
    Ozaltin, Fatih
    Gonc, Nazl
    Nalcacioglu, Hulya
    Ozcakar, Z. Birsin
    Yalnizoglu, Dilek
    Gucer, Safak
    Orhan, Diclehan
    Eminoglu, Fatma Tuba
    Gocmen, Rahsan
    Alikasifoglu, Ayfer
    Topaloglu, Rezan
    Duzova, Ali
    PEDIATRIC NEUROLOGY, 2018, 88 : 71 - 74
  • [7] Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
    Salviati, Leonardo
    Trevisson, Eva
    Rodriguez Hernandez, Maria Angeles
    Casarin, Alberto
    Pertegato, Vanessa
    Doimo, Mara
    Cassina, Matteo
    Agosto, Caterina
    Desbats, Maria Andrea
    Sartori, Geppo
    Sacconi, Sabrina
    Memo, Luigi
    Zuffardi, Orsetta
    Artuch, Rafael
    Quinzii, Catarina
    DiMauro, Salvatore
    Hirano, Michio
    Santos-Ocana, Carlos
    Navas, Placido
    JOURNAL OF MEDICAL GENETICS, 2012, 49 (03) : 187 - 191
  • [8] Response to early coenzyme Q10 supplementation is not sustained in CoQ10 deficiency caused by CoQ2 mutation (vol 88, pg 71, 2018)
    Eroglu, Fehime K.
    Ozaltin, Fatih
    Gonc, Nazli
    Nalcacioglu, Hulya
    Ozcakar, Z. Birsin
    Yalnizoglu, Dilek
    Gucer, Safak
    Orhan, Diclehan
    Eminoglu, Fatma Tuba
    Gocmen, Rahsan
    Alikasifoglu, Ayfer
    Topaloglu, Rezan
    Duzova, Ali
    PEDIATRIC NEUROLOGY, 2019, 94 : 84 - 84
  • [9] A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
    Olgac, Asburce
    Oztoprak, Ulkuhan
    Kasapkara, Cigdem Seher
    Kilic, Mustafa
    Yuksel, Deniz
    Derinkuyu, Emine Betul
    Yildiz, Yasemin Tasci
    Ceylaner, Serdar
    Ezgu, Fatih Suheyl
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2020, 33 (01): : 165 - 170
  • [10] A Personalized Model of COQ2 Nephropathy Rescued by the Wild-Type COQ2 Allele or Dietary Coenzyme Q10 Supplementation
    Zhu, Jun-yi
    Fu, Yulong
    Richman, Adam
    Zhao, Zhanzheng
    Ray, Patricio E.
    Han, Zhe
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2017, 28 (09): : 2608 - 2618
12345