A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

被引：0
|
作者：
Henry Rivera
Elena Martín-Hernández
Aitor Delmiro
María Teresa García-Silva
Pilar Quijada-Fraile
Rafael Muley
Joaquín Arenas
Miguel A Martín
Francisco Martínez-Azorín
机构：
[1] Instituto de Investigación Hospital 12 de Octubre (i + 12),Laboratorio de Enfermedades Mitocondriales
[2] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),undefined
[3] U723,undefined
[4] Unidad Pediátrica de Enfermedades Raras,undefined
[5] Unidad Pediátrica de Nefrología,undefined
来源：
BMC Nephrology | / 14卷
关键词：
Mitochondrial DNA; Mitochondrial disease; HUPRA syndrome; Mitochondrial respiratory chain;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome
    Rivera, Henry
    Martin-Hernandez, Elena
    Delmiro, Aitor
    Teresa Garcia-Silva, Maria
    Quijada-Fraile, Pilar
    Muley, Rafael
    Arenas, Joaquin
    Martin, Miguel A.
    Martinez-Azorin, Francisco
    BMC NEPHROLOGY, 2013, 14
  • [2] Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome
    Belostotsky, Ruth
    Ben-Shalom, Efrat
    Rinat, Choni
    Becker-Cohen, Rachel
    Feinstein, Sofia
    Zeligson, Sharon
    Segel, Reeval
    Elpeleg, Orly
    Nassar, Suheir
    Frishberg, Yaacov
    AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (02) : 193 - 200
  • [3] Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome
    Linnankivi, Tarja
    Neupane, Nirajan
    Richter, Uwe
    Isohanni, Pirjo
    Tyynismaa, Henna
    HUMAN MUTATION, 2016, 37 (09) : 884 - 888
  • [4] Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension
    Yang, Fan
    Wang, Dan
    Zhang, Xuehua
    Fan, Haoqin
    Zheng, Yu
    Xiao, Zhenghui
    Chen, Zhi
    Xiao, Yunbin
    Liu, Qiming
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2023, 9
  • [5] CHARACTERIZATION OF BOND SITES OF SERYL-TRNA SYNTHETASE FOR SERYL-TRNA
    PACHMANN, U
    RIGLER, R
    HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1976, 357 (03): : 300 - 300
  • [6] Characterization and tRNA recognition of mammalian mitochondrial seryl-tRNA synthetase
    Yokogawa, T
    Shimada, N
    Takeuchi, N
    Benkowski, L
    Suzuki, T
    Omori, A
    Ueda, T
    Nishikawa, K
    Spremulli, LL
    Watanabe, K
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (26) : 19913 - 19920
  • [7] Analysis and overexpression in Escherichia coli of a staphylococcal gene encoding seryl-tRNA synthetase
    Bausch, N.
    Seignovert, L.
    Beaulande, M.
    Leberman, R.
    B B A - Biomembranes, 1397 (02):
  • [8] Analysis and overexpression in Escherichia coli of a staphylococcal gene encoding seryl-tRNA synthetase
    Bausch, N
    Seignovert, L
    Beaulande, M
    Leberman, R
    Härtlein, M
    BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION, 1998, 1397 (02): : 169 - 174
  • [9] Genomic organization, expression, and subcellular localization of mouse mitochondrial seryl-tRNA synthetase
    Gibbons, WJ
    Yan, QF
    Li, RH
    Li, XM
    Guan, MX
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2004, 317 (03) : 774 - 778
  • [10] Insights into substrate promiscuity of human seryl-tRNA synthetase
    Holman, Kaitlyn M.
    Puppala, Anupama K.
    Lee, Jonathan W.
    Lee, Hyun
    Simonovic, Miljan
    RNA, 2017, 23 (11) : 1685 - 1699
12345