Ten novel mutations in the mitochondrial elongation translation factor EFG1 are associated to neurological involvement

被引:0
|
作者
Barcia, G. [1 ,2 ]
Rio, M. [1 ,2 ]
Assouline, Z. [1 ,2 ]
Zangarelli, C. [2 ]
Schiff, M. [1 ,2 ]
Barth, M. [3 ]
Munnich, A. [1 ,2 ]
Procaccio, V. [3 ]
Steffann, J. [1 ,2 ]
Rotig, A. [2 ]
Boddaert, N. [1 ,2 ]
Metodiev, M. [2 ]
Ruzzenente, B. [2 ]
机构
[1] Hop Necker Enfants Malad, Paris, France
[2] Imagine Inst, Paris, France
[3] CHU Angers, Angers, France
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
P06.19B
引用
收藏
页码:1340 / 1340
页数:1
相关论文
共 50 条
  • [31] Clinical and molecular findings in a family expressing a novel heterozygous variant of the G elongation factor mitochondrial 1 gene
    Su, Chang
    Wang, Fangfang
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2020, 20 (06)
  • [32] Interplay between GCN2 and GCN4 expression, translation elongation factor 1 mutations and translational fidelity in yeast
    Magazinnik, T
    Anand, M
    Sattlegger, E
    Hinnebusch, AG
    Kinzy, TG
    NUCLEIC ACIDS RESEARCH, 2005, 33 (14) : 4584 - 4592
  • [33] The surface-associated translation elongation factor 1 of Candida albicans mediates its interaction with the innate immune system
    Lopez, C. M.
    Miramon, P.
    Duggan, S.
    Kurzai, O.
    Hube, B.
    Zipfel, P. F.
    MYCOSES, 2012, 55 : 66 - 67
  • [34] Translation Elongation Factor eEF1A Binds to a Novel Myosin Binding Protein-C-Like Protein
    Mansilla, Francisco
    Dominguez, Carlota A. G.
    Yeadon, James E.
    Corydon, Thomas J.
    Burden, Steven J.
    Knudsen, Charlotte R.
    JOURNAL OF CELLULAR BIOCHEMISTRY, 2008, 105 (03) : 847 - 858
  • [35] A NOVEL DE NOVO MUTATION IN CACNA1A IS ASSOCIATED WITH ATYPICAL NEUROLOGICAL FEATURES AND MITOCHONDRIAL DYSFUNCTION
    Derar, N. N.
    Brown, C.
    Platt, J.
    Enns, G.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2016, 64 (01) : 284 - 285
  • [36] Translation termination in the yeast mitochondrial system:: Ambiguity mutations in the MRF1 gene encoding release factor.
    Towpik, J
    Chacinska, A
    Boguta, M
    YEAST, 2001, 18 : S68 - S68
  • [37] Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle
    Smits, Paulien
    Antonicka, Hana
    van Hasselt, Peter M.
    Weraarpachai, Woranontee
    Haller, Wolfram
    Schreurs, Marieke
    Venselaar, Hanka
    Rodenburg, Richard J.
    Smeitink, Jan A.
    van den Heuvel, Lambert P.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (03) : 275 - 279
  • [38] Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle
    Paulien Smits
    Hana Antonicka
    Peter M van Hasselt
    Woranontee Weraarpachai
    Wolfram Haller
    Marieke Schreurs
    Hanka Venselaar
    Richard J Rodenburg
    Jan A Smeitink
    Lambert P van den Heuvel
    European Journal of Human Genetics, 2011, 19 : 275 - 279
  • [39] Central nervous system involvement in severe congenital neutropenia:: neurological and neuropsychological abnormalities associated with specific HAX1 mutations
    Carlsson, G.
    van't Hooft, I.
    Melin, M.
    Entesarian, M.
    Laurencikas, E.
    Nennesmo, I.
    Trebinska, A.
    Grzybowska, E.
    Palmblad, J.
    Dahl, N.
    Nordenskjold, M.
    Fadeel, B.
    Henter, J-I
    JOURNAL OF INTERNAL MEDICINE, 2008, 264 (04) : 388 - 400
  • [40] Unique classes of mutations in the Saccharomyces cerevisiae G-protein translation elongation factor 1A suppress the requirement for guanine nucleotide exchange
    Ozturk, Sedide B.
    Vishnu, Melanie R.
    Olarewaju, Olubunmi
    Starita, Lea M.
    Masison, Daniel C.
    Kinzy, Terri Goss
    GENETICS, 2006, 174 (02) : 651 - 663