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
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
  • [21] Epilepsy spectrum in cerebral creatine transporter deficiency
    Fons, Carmen
    Sempere, Angela
    Sanmarti, Francesc X.
    Arias, Angela
    Poo, Pilar
    Pineda, Mercedes
    Ribes, Antonia
    Merinero, Begona
    Vilaseca, Maria A.
    Salomons, Gajja S.
    Artuch, Rafael
    Campistol, Jaume
    EPILEPSIA, 2009, 50 (09) : 2168 - 2170
  • [22] X-linked creatine transporter deficiency
    Schiaffino, MC
    Bellini, C
    Costabello, L
    Caruso, U
    Jakobs, C
    Salomons, GS
    Bonioli, E
    NEUROGENETICS, 2005, 6 (03) : 165 - 168
  • [23] Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency
    Adriano, Enrico
    Gulino, Maurizio
    Arkel, Maria
    Salis, Annalisa
    Damonte, Gianluca
    Liessi, Nara
    Millo, Enrico
    Garbati, Patrizia
    Balestrino, Maurizio
    NEUROSCIENCE LETTERS, 2018, 665 : 217 - 223
  • [24] BIOCHEMICAL DIAGNOSTICS OF CREATINE TRANSPORTER DEFICIENCY IN ESTONIA
    Kall, K.
    Reimand, T.
    Talvik, I
    Pop, A.
    Salomons, G. S.
    Ounap, K.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S54 - S54
  • [25] Dodecyl creatine ester, a promising treatment to deliver creatine to neurons, achieves pharmacology efficacy in creatine transporter deficiency
    Disdier, Clemence
    Lhotellier, Clara
    Guyot, Anne-Cecile
    Costa, Narciso
    Theodoro, Frederic
    Pruvost, Alain
    Skelton, Matthew R.
    Joudinaud, Thomas
    Mabondzo, Aloise
    Benech, Henri
    EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY, 2025, 284
  • [26] X-linked creatine deficiency syndrome:: A novel mutation in creatine transporter gene SLC6A8
    Bizzi, A
    Bugiani, M
    Salomons, GS
    Hunneman, DH
    Moroni, I
    Estienne, M
    Danesi, U
    Jakobs, C
    Uziel, G
    ANNALS OF NEUROLOGY, 2002, 52 (02) : 227 - 231
  • [27] Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency
    Ullio-Gamboa, Gabriela
    Udobi, Kenea C.
    Dezard, Sophie
    Perna, Marla K.
    Miles, Keila N.
    Costa, Narciso
    Taran, Frederic
    Pruvost, Alain
    Benoit, Jean-Pierre
    Skelton, Matthew R.
    de Lonlay, Pascale
    Mabondzo, Aloise
    NANOMEDICINE, 2019, 14 (12) : 1579 - 1593
  • [28] Creatine transporter deficiency: effect Of Di-Acyl-Creatine in Brain slices in vitro
    Adriano, E.
    Salis, A.
    Millo, E.
    Arkel, M.
    Damonte, G.
    Balestrino, M.
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2017, 47 : 58 - 59
  • [29] Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency
    Trotier-Faurion, Alexandra
    Passirani, Catherine
    Bejaud, Jerome
    Dezard, Sophie
    Valayannopoulos, Vassili
    Taran, Frederic
    de Lonlay, Pascale
    Benoit, Jean-Pierre
    Mabondzo, Aloise
    NANOMEDICINE, 2015, 10 (02) : 185 - 191
  • [30] Novel X-linked mental retardation syndrome: Creatine transporter deficiency
    Salomons, GS
    vanDooren, SJM
    Darmin, P
    Verhoeven, NM
    Marsden, D
    Mancini, GGM
    Schwartz, CE
    Cecil, KM
    deGrauw, TJ
    Jakobs, C
    NEUROLOGY, 2004, 62 (07) : A22 - A22