Computational Analysis of Missense Mutations in Creatine Transporter Protein Associated with Creatine Deficiency Syndrome

被引：0
|
作者：
Koirala, Mahesh [1 ]
Alexov, Emil [1 ]
机构：
[1] Clemson Univ, Phys & Astron, Clemson, SC USA
来源：
BIOPHYSICAL JOURNAL | 2020年 / 118卷 / 03期
关键词：
D O I：
暂无
中图分类号：
Q6 [生物物理学];
学科分类号：
071011 ;
摘要：
961-Pos
引用
收藏
页码：197A / 197A
页数：1
相关论文
共 50 条
  • [1] The clinical syndrome of creatine transporter deficiency
    deGrauw, TJ
    Cecil, KM
    Byars, AW
    Salomons, GS
    Ball, WS
    Jakobs, C
    MOLECULAR AND CELLULAR BIOCHEMISTRY, 2003, 244 (01) : 45 - 48
  • [2] The clinical syndrome of creatine transporter deficiency
    Ton J. De Grauw
    Kim M. Cecil
    Anna W. Byars
    Gajja S. Salomons
    William S. Ball
    Cornelis Jakobs
    Molecular and Cellular Biochemistry, 2003, 244 : 45 - 48
  • [3] The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome
    Farr, Clemens, V
    El-Kasaby, Ali
    Freissmuth, Michael
    Sucic, Sonja
    FRONTIERS IN SYNAPTIC NEUROSCIENCE, 2020, 12
  • [4] Creatine transporter deficiency: Novel mutations and functional studies
    Ardon, O.
    Procter, M.
    Mao, R.
    Longo, N.
    Landau, Y. E.
    Shilon-Hadass, A.
    Gabis, L. V.
    Hoffmann, C.
    Tzadok, M.
    Heimer, G.
    Sada, S.
    Ben-Zeev, B.
    Anikster, Y.
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 8 : 20 - 23
  • [5] RESPONSE TO CREATINE ANALOGOUS SUPPLEMENTATION IN CREATINE TRANSPORTER DEFICIENCY
    Campistol, J.
    Fons, C.
    Arias, A. Y.
    Poo, P.
    Lopez-Sala, A.
    Mas, A.
    Ribes, A.
    Artuch, R.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 134 - 134
  • [6] Congenital creatine transporter deficiency
    DeGrauw, TJ
    Salomons, GS
    Cecil, KM
    Chuck, G
    Newmeyer, A
    Shapiro, MB
    Jakobs, C
    NEUROPEDIATRICS, 2002, 33 (05) : 232 - 238
  • [7] Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
    Fons, C.
    Arias, A.
    Sempere, A.
    Poo, P.
    Pineda, M.
    Mas, A.
    Lopez-Sala, A.
    Garcia-Villoria, J.
    Vilaseca, M. A.
    Ozaez, L.
    Lluch, M.
    Artuch, R.
    Campistol, J.
    Ribes, A.
    MOLECULAR GENETICS AND METABOLISM, 2010, 99 (03) : 296 - 299
  • [8] Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
    Cecil, KM
    Salomons, GS
    Ball, WS
    Wong, B
    Chuck, G
    Verhoeven, NM
    Jakobs, C
    DeGrauw, TJ
    ANNALS OF NEUROLOGY, 2001, 49 (03) : 401 - 404
  • [9] Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization
    Uemura, Tatsuki
    Ito, Shingo
    Ohta, Yusuke
    Tachikawa, Masanori
    Wada, Takahito
    Terasaki, Tetsuya
    Ohtsukib, Sumio
    BIOLOGICAL & PHARMACEUTICAL BULLETIN, 2017, 40 (01) : 49 - 55
  • [10] Oxidative phosphorylation in creatine transporter deficiency
    Li, Shizhe
    Bianconi, Simona
    van der Veen, Jan Willem
    Dang Do, An
    Stolinski, JoEllyn
    Cecil, Kim M.
    Hannah-Shmouni, Fady
    Porter, Forbes D.
    Shen, Jun
    NMR IN BIOMEDICINE, 2021, 34 (01)
12345