From basic research to clinical practice: RNA interference

被引：0
作者：
Barreda-Sanchez, Maria [1 ,2 ]
Guillen-Navarro, Encarna [1 ,3 ,4 ,5 ]
机构：
[1] Inst Murciano Invest Biosanitaria Pascual Parrill, Murcia, Spain
[2] Univ Catolica San Antonio Murcia UCAM, Murcia, Spain
[3] Hosp Clin Univ Virgen de la Arrixaca, Serv Pediat, Secc Genet Med, Murcia, Spain
[4] Univ Murcia, Fac Med, Dept Pediat, Campus Ciencias Salud, Murcia, Spain
[5] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
来源：
MEDICINA CLINICA | 2023年 / 159卷
关键词：
HEPATIC HEME-BIOSYNTHESIS; PORPHYRIA; RECEPTOR; THERAPY; TRIAL;
D O I：
10.1016/j.medcli.2023.05.030
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S33 / S37
页数：5
相关论文
共 36 条
[1]   Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria [J].
Balwani, Manisha ;
Sardh, Eliane ;
Ventura, Paolo ;
Peiro, Paula Aguilera ;
Rees, David C. ;
Stoelzel, Ulrich ;
Bissell, D. Montgomery ;
Bonkovsky, Herbert L. ;
Windyga, Jerzy ;
Anderson, Karl E. ;
Parker, Charles ;
Silver, Samuel M. ;
Keel, Sioban B. ;
Wang, Jiaan-Der ;
Stein, Penelope E. ;
Harper, Pauline ;
Vassiliou, Daphne ;
Wang, Bruce ;
Phillips, John ;
Ivanova, Aneta ;
Langendonk, Janneke G. ;
Kauppinen, Raili ;
Minder, Elisabeth ;
Horie, Yutaka ;
Penz, Craig ;
Chen, Jihong ;
Liu, Shangbin ;
Ko, John J. ;
Sweetser, Marianne T. ;
Garg, Pushkal ;
Vaishnaw, Akshay ;
Kim, Jae B. ;
Simon, Amy R. ;
Gouya, Laurent .
NEW ENGLAND JOURNAL OF MEDICINE, 2020, 382 (24) :2289-2301
[2]   High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor [J].
Barreda-Sanchez, Maria ;
Buendia-Martinez, Juan ;
Glover-Lopez, Guillermo ;
Carazo-Diaz, Carmen ;
Juliana Ballesta-Martinez, Maria ;
Lopez-Gonzalez, Vanesa ;
Jose Sanchez-Soler, Maria ;
Rodriguez-Pena, Lidya ;
Teresa Serrano-Anton, Ana ;
Gil-Ferrer, Remedios ;
Del Carmen Martinez-Romero, Maria ;
Carbonell-Meseguer, Pablo ;
Guillen-Navarro, Encarna .
ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (1)
[3]   MicroRNAs: Genomics, biogenesis, mechanism, and function (Reprinted from Cell, vol 116, pg 281-297, 2004) [J].
Bartel, David P. .
CELL, 2007, 131 (04) :11-29
[4]   Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs) [J].
Bonkovsky, Herbert L. ;
Dixon, Natalia ;
Rudnick, Sean .
MOLECULAR GENETICS AND METABOLISM, 2019, 128 (03) :213-218
[5]   Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients [J].
Buendia-Martinez, Juan ;
Barreda-Sanchez, Maria ;
Rodriguez-Pena, Lidya ;
Juliana Ballesta-Martinez, Maria ;
Lopez-Gonzalez, Vanesa ;
Jose Sanchez-Soler, Maria ;
Teresa Serrano-Anton, Ana ;
Elena Perez-Tomas, Maria ;
Gil-Ferrer, Remedios ;
Aviles-Plaza, Francisco ;
Glover-Lopez, Guillermo ;
Carazo-Diaz, Carmen ;
Guillen-Navarro, Encarna .
ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
[6]   Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria [J].
D'Avola, Delia ;
Lopez-Franco, Esperanza ;
Sangro, Bruno ;
Paneda, Astrid ;
Grossios, Nadina ;
Gil-Farina, Irene ;
Benito, Alberto ;
Twisk, Jaap ;
Paz, Maria ;
Ruiz, Juan ;
Schmidt, Manfred ;
Petry, Harald ;
Harper, Pauline ;
Enriquez de Salamanca, Rafael ;
Fontanellas, Antonio ;
Prieto, Jesus ;
Gonzalez-Aseguinolaza, Gloria .
JOURNAL OF HEPATOLOGY, 2016, 65 (04) :776-783
[7]   Leading RNA Interference Therapeutics Part 2: Silencing Delta-Aminolevulinic Acid Synthase 1, with a Focus on Givosiran [J].
de Paula Brandao, Pedro Renato ;
Titze-de-Almeida, Simoneide S. ;
Titze-de-Almeida, Ricardo .
MOLECULAR DIAGNOSIS & THERAPY, 2020, 24 (01) :61-68
[8]   RETRACTED: Peroxisome Proliferator-Activated Receptor α controls Hepatic Heme Biosynthesis Through ALAS1 (Retracted article. See vol. 404, pg. 172, 2010) [J].
Degenhardt, Tatjana ;
Vaisanen, Sami ;
Rakhshandehroo, Maryam ;
Kersten, Sander ;
Carlberg, Carsten .
JOURNAL OF MOLECULAR BIOLOGY, 2009, 388 (02) :225-238
[9]   Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients [J].
Delaby, C. ;
To-Figueras, J. ;
Deybach, J. C. ;
Casamitjana, R. ;
Puy, H. ;
Herrero, C. .
JOURNAL OF INTERNAL MEDICINE, 2009, 266 (03) :277-285
[10]   Porphyrias in the Age of Targeted Therapies [J].
Erwin, Angelika L. ;
Balwani, Manisha .
DIAGNOSTICS, 2021, 11 (10)
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