AIMP1/p43 Mutation and PMLD

被引：10
|
作者：
Biancheri, Roberta [1 ]
Rossi, Andrea
Zara, Federico [2 ]
Filocamo, Mirella [3 ]
机构：
[1] G Gaslini Inst Children, Child Neurol & Psychiat Unit, Dept Neurosci, I-16147 Genoa, Italy
[2] G Gaslini Inst Children, Muscular & Neurodegenerat Dis Unit, Dept Neurosci, I-16147 Genoa, Italy
[3] G Gaslini Inst Children, Lab Diag & Postnatale Malattie Metab, Dept Neurosci, I-16147 Genoa, Italy
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2011年 / 88卷 / 03期
关键词：
MERZBACHER-LIKE DISEASE; DISORDERS;
D O I：
10.1016/j.ajhg.2011.02.003
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：391 / 391
页数：1
相关论文
共 50 条
  • [1] Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD
    Boespflug-Tanguy, Odile
    Aubourg, Patrick
    Dorboz, Imen
    Begou, Melina
    Giraud, Genevieve
    Sarret, Catherine
    Vaurs-Barriere, Catherine
    AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (03) : 392 - 393
  • [2] Hormonal activity of AIMP1/p43 for glucose homeostasis
    Park, Sang Gyu
    Kang, Young Sun
    Kim, Jin Young
    Lee, Chang Seok
    Ko, Young Gyu
    Lee, Woo Je
    Lee, Ki-Up
    Yeom, Young Il
    Kim, Sunghoon
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (40) : 14913 - 14918
  • [3] Effect of AIMp1/p43 protein on heart function in hypertension
    Dorofeyeva, N. A.
    Tsuvariev, O. Y.
    Kornelyuk, A. I.
    Sagach, V. F.
    CARDIOVASCULAR RESEARCH, 2018, 114 : S139 - S139
  • [4] Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation
    Feinstein, Miora
    Markus, Barak
    Noyman, Iris
    Shalev, Hannah
    Flusser, Hagit
    Shelef, Ilan
    Liani-Leibson, Keren
    Shorer, Zamir
    Cohen, Idan
    Khateeb, Shareef
    Sivan, Sara
    Birk, Ohad S.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (06) : 820 - 828
  • [5] Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD
    Feinstein, Miora
    Markus, Barak
    Noyman, Iris
    Shalev, Hannah
    Flusser, Hagit
    Shelef, Ilan
    Liani-Leibson, Keren
    Shorer, Zamir
    Cohen, Idan
    Khateeb, Shareef
    Sivan, Sara
    Birk, Ohad S.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (03) : 393 - 395
  • [6] Identification of CD23 as a functional receptor for the proinflammatory cytokine AIMP1/p43
    Kwon, Hyuk-Sang
    Park, Min Chul
    Kim, Dae Gyu
    Cho, Kiwon
    Park, Young Woo
    Han, Jung Min
    Kim, Sunghoon
    JOURNAL OF CELL SCIENCE, 2012, 125 (19) : 4620 - 4629
  • [7] Stepping Out of the Cytosol: AIMp1/p43 Potentiates the Link Between Innate and Adaptive Immunity
    Liang, D.
    Halpert, M. M.
    Konduri, V.
    Decker, W. K.
    INTERNATIONAL REVIEWS OF IMMUNOLOGY, 2015, 34 (05) : 367 - 381
  • [8] AIMP1/p43 downregulates TGF-β signaling via stabilization of smurf2
    Lee, Yeon Sook
    Han, Jung Min
    Son, Sung Hwa
    Choi, Jin Woo
    Jeon, Eun Ju
    Bae, Suk-Chul
    Park, Young In
    Kim, Sunghoon
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2008, 371 (03) : 395 - 400
  • [9] AIMP1/p43 protein structural topography studies using bis-ANS fluorescence probe
    Tsuvariev, O.
    Lozhko, D.
    Zayets, V.
    Kornelyuk, A.
    FEBS JOURNAL, 2017, 284 : 308 - 308
  • [10] Stabilization of AIMP1/p43 and EMAP II recombinant proteins in the complexes with polysaccharide dextran-70
    Kolomiiets, L. A.
    Vorobyova, N. V.
    Lozhko, D. M.
    Zayets, V. M.
    Kornelyuk, A., I
    PHARMACOLOGICAL REPORTS, 2020, 72 (01) : 238 - 245
12345