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
  • [21] SOME PROPERTIES OF SERYL-tRNA SYNTHETASE FROM RAT LIVER
    Blytt, Harold J.
    Menzies, Robert A.
    MECHANISMS OF AGEING AND DEVELOPMENT, 1972, 1 : 413 - 426
  • [22] Noncanonical Activity of Seryl-tRNA Synthetase Is Involved in Vascular Development
    Fukui, Hajime
    Hanaoka, Ryuki
    Kawahara, Atsuo
    CIRCULATION RESEARCH, 2009, 104 (11) : 1253 - U46
  • [23] Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease
    He, Jin
    Liu, Xiao-Xuan
    Ma, Ming-Ming
    Lin, Jing-Jing
    Fu, Jun
    Chen, Yi-Kun
    Xu, Guo-Rong
    Xu, Liu-Qing
    Fu, Zhi-Fei
    Xu, Dan
    Chen, Wen-Feng
    Cao, Chun-Yan
    Shi, Yan
    Zeng, Yi-Heng
    Zhang, Jing
    Chen, Xiao-Chun
    Zhang, Ru-Xu
    Wang, Ning
    Kennerson, Marina
    Fan, Dong-Sheng
    Chen, Wan-Jin
    ANNALS OF NEUROLOGY, 2023, 93 (02) : 244 - 256
  • [24] Dual targeting of organellar seryl-tRNA synthetase to maize mitochondria and chloroplasts
    Rokov-Plavec, Jasmina
    Dulic, Morana
    Duchene, Anne-Marie
    Weygand-Durasevic, Ivana
    PLANT CELL REPORTS, 2008, 27 (07) : 1157 - 1168
  • [25] Dual targeting of organellar seryl-tRNA synthetase to maize mitochondria and chloroplasts
    Jasmina Rokov-Plavec
    Morana Dulic
    Anne-Marie Duchêne
    Ivana Weygand-Durasevic
    Plant Cell Reports, 2008, 27 : 1157 - 1168
  • [26] EFFECT OF ESTROGEN ON REGULATION OF SERINE-TRNA AND SERYL-TRNA SYNTHETASE IN LIVER OF HEN
    BECK, G
    HENTZEN, D
    EBEL, JP
    COMPTES RENDUS DES SEANCES DE LA SOCIETE DE BIOLOGIE ET DE SES FILIALES, 1969, 163 (12): : 2713 - &
  • [27] The tRNA methyltransferase METTL6 requires seryl-tRNA synthetase for tRNASer targeting
    Kowalinski, Eva
    NATURE STRUCTURAL & MOLECULAR BIOLOGY, 2024, 31 (10) : 1464 - 1465
  • [28] Pathways for conformational change in seryl-tRNA synthetase from Thermus thermophilus
    ElKettani, MAEC
    Smith, JC
    COMPTES RENDUS DE L ACADEMIE DES SCIENCES SERIE III-SCIENCES DE LA VIE-LIFE SCIENCES, 1996, 319 (03): : 161 - 169
  • [29] Superposition of a tRNASer acceptor stem microhelix into the seryl-tRNA synthetase complex
    Foerster, C.
    Brauer, A. B. E.
    Fuerste, J. P.
    Betzel, Ch.
    Weber, M.
    Cordes, F.
    Erdmann, V. A.
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2007, 362 (02) : 415 - 418
  • [30] Genetic Evidence for a Noncanonical Function of Seryl-tRNA Synthetase in Vascular Development
    Herzog, Wiebke
    Mueller, Katja
    Huisken, Jan
    Stainier, Didier Y. R.
    CIRCULATION RESEARCH, 2009, 104 (11) : 1260 - U57
12345