PHARMACOLOGICAL CHAPERONE THERAPY IN MCAD DEFICIENCY: RATIONALE FOR MUTANT SPECIFIC TARGET SITES

被引：0
|
作者：
Gersting, S. W. [1 ]
Jank, J. [1 ]
Reiss, D. D. [1 ]
Sommerhoff, C. P. [2 ]
Maier, E. M. [3 ]
Muntau, A. C. [1 ]
机构：
[1] LMU, Hauner Child Hosp, Munich, Germany
[2] LMU, Surg Clin, Munich, Germany
[3] Paracelsus Med Univ, Dept Pediat, Salzburg, Austria
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2012年 / 35卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S144 / S144
页数：1
相关论文
共 13 条
  • [1] Medium-chain acyl-CoA dehydrogenase substrate binding site: A pharmacophore target for MCAD mutant chaperone therapy
    Mohsen, Al-Walid
    Karunanidhi, Anuradha
    Vockley, Jerry
    MOLECULAR GENETICS AND METABOLISM, 2024, 141 (04)
  • [2] Chemical Chaperone Therapy: Chaperone Effect on Mutant Enzyme and Cellular Pathophysiology in β-Galactosidase Deficiency
    Higaki, Katsumi
    Li, Linjing
    Bahrudin, Udin
    Okuzawa, Soichiro
    Takamuram, Ayumi
    Yamamoto, Koichi
    Adachi, Kaori
    Paraguison, Rubigilda C.
    Takai, Tomoko
    Ikehata, Hiroki
    Tominaga, Lika
    Hisatome, Ichiro
    Iida, Masami
    Ogawa, Seiichiro
    Matsuda, Junichiro
    Ninomiya, Haruaki
    Sakakibara, Yasubumi
    Ohno, Kousaku
    Suzuki, Yoshiyuki
    Nanba, Eiji
    HUMAN MUTATION, 2011, 32 (07) : 843 - 852
  • [3] Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies
    Germain, D. P.
    Fan, J. -Q.
    INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS, 2009, 47 : S111 - S117
  • [4] Pharmacological chaperone therapy for lysosomal storage disorders - leveraging aspects of the folding pathway to maximize activity of misfolded mutant proteins
    Fan, Jian-Qiang
    FEBS JOURNAL, 2007, 274 (19) : 4943 - 4943
  • [5] Pharmacological chaperone therapy for the treatment of Pompe disease: Deoxynojirimycin increases lysosomal levels and specific activity of acid alpha-glucosidase
    Wustman, B.
    Powe, A., Jr.
    Flanagan, J.
    Khanna, R.
    Liang, W.
    Wu, X.
    Dhulipala, R.
    Soska, R.
    Smith, E.
    Pine, C.
    Benjamin, E.
    Lockhart, D.
    Valenzano, K.
    Do, H.
    NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 889 - 890
  • [6] Pharmacological Development of Target-Specific Delocalized Lipophilic Cation-Functionalized Carboranes for Cancer Therapy
    Eirini D. Tseligka
    Aikaterini Rova
    Elsa P. Amanatiadou
    Gianpiero Calabrese
    John Tsibouklis
    Dimitrios G. Fatouros
    Ioannis S. Vizirianakis
    Pharmaceutical Research, 2016, 33 : 1945 - 1958
  • [7] Pharmacological Development of Target-Specific Delocalized Lipophilic Cation-Functionalized Carboranes for Cancer Therapy
    Tseligka, Eirini D.
    Rova, Aikaterini
    Amanatiadou, Elsa P.
    Calabrese, Gianpiero
    Tsibouklis, John
    Fatouros, Dimitrios G.
    Vizirianakis, Ioannis S.
    PHARMACEUTICAL RESEARCH, 2016, 33 (08) : 1945 - 1958
  • [8] Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease
    Kopytova, Alena E.
    Rychkov, George N.
    Cheblokov, Alexander A.
    Grigor'eva, Elena V.
    Nikolaev, Mikhail A.
    Yarkova, Elena S.
    Sorogina, Diana A.
    Ibatullin, Farid M.
    Baydakova, Galina V.
    Izyumchenko, Artem D.
    Bogdanova, Daria A.
    Boitsov, Vitali M.
    Rybakov, Akim V.
    Miliukhina, Irina V.
    Bezrukikh, Vadim A.
    Salogub, Galina N.
    Zakharova, Ekaterina Y.
    Pchelina, Sofya N.
    Emelyanov, Anton K.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (10)
  • [9] Pharmacological chaperone-rescued cystic fibrosis CFTR-F508del mutant overcomes PRAF2-gated access to endoplasmic reticulum exit sites
    Saha, Kusumika
    Chevalier, Benoit
    Doly, Stephane
    Baatallah, Nesrine
    Guilbert, Thomas
    Pranke, Iwona
    Scott, Mark G. H.
    Enslen, Herve
    Guerrera, Chiara
    Chuon, Cerina
    Edelman, Aleksander
    Sermet-Gaudelus, Isabelle
    Hinzpeter, Alexandre
    Marullo, Stefano
    CELLULAR AND MOLECULAR LIFE SCIENCES, 2022, 79 (10)
  • [10] Pharmacological chaperone-rescued cystic fibrosis CFTR-F508del mutant overcomes PRAF2-gated access to endoplasmic reticulum exit sites
    Kusumika Saha
    Benoit Chevalier
    Stéphane Doly
    Nesrine Baatallah
    Thomas Guilbert
    Iwona Pranke
    Mark G. H. Scott
    Hervé Enslen
    Chiara Guerrera
    Cérina Chuon
    Aleksander Edelman
    Isabelle Sermet-Gaudelus
    Alexandre Hinzpeter
    Stefano Marullo
    Cellular and Molecular Life Sciences, 2022, 79
12