Review
Medicine, General & Internal
Maria Sanchez-Villalobos, Miguel Blanquer, Jose M. Moraleda, Eduardo J. Salido, Ana B. Perez-Oliva
Summary: In this article, the main pathophysiological pathways involved in beta-thalassemia are reviewed, with a focus on the development of new therapies directed at new therapeutic targets.
FRONTIERS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Gaijing Han, Cong Cao, Xi Yang, Guo-Wei Zhao, Xin-Jun Hu, Dong-Lin Yu, Rui-Feng Yang, Ke Yang, Ying-Ying Zhang, Wen-Tian Wang, Xiu-Zhen Liu, Peng Xu, Xue-Hui Liu, Ping Chen, Zheng Xue, De-Pei Liu, Xiang Lv
Summary: In beta-thalassemia, AHSP plays a crucial role in regulating redox balance by escorting free alpha-globin and inhibiting ROS production. Nrf2 and its agonist tBHQ can stimulate AHSP expression, and MafG facilitates AHSP gene activation through Nrf2. Excessive alpha-globin and ROS production can be partially alleviated by reducing AHSP level.
Article
Genetics & Heredity
Guoxing Zhong, Zeyan Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen
Summary: This study reports a case of thalassemia in a 32-year-old male patient, in which a novel gene deletion was identified using multiple detection methods. The results demonstrate the promising potential of TGS technology in thalassemia breakpoint detection and screening for novel gene deletions.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Sima Alkilani, Tuba Sevimoglu
Summary: In this study, molecular dynamics simulation was used to examine the effects of alanine substitution mutations in the beta-globin protein sub-units on their structure and performance. It was found that the Hb Ankara variant showed a non-conservative mutation, while the Hb Siirt and Hb Izmir variants showed semi-conservative mutations. Hb Siirt substitution mutation may have an effect on the protein function, while Hb Ankara and Hb Izmir variants may act as silent mutations.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Review
Chemistry, Medicinal
Rayan Bou-Fakhredin, Lucia De Franceschi, Irene Motta, Maria Domenica Cappellini, Ali T. Taher
Summary: Better understanding of gamma-globin regulation has led to advancements in pharmacologic agents for HbF induction and identification of novel HbF-inducing strategies.
Article
Biochemistry & Molecular Biology
Matteo Zurlo, Cristina Zuccato, Lucia Carmela Cosenza, Jessica Gasparello, Maria Rita Gamberini, Alice Stievano, Monica Fortini, Marco Prosdocimi, Alessia Finotti, Roberto Gambari
Summary: This research demonstrates that sirolimus treatment can decrease autophagy-associated p62 protein, increase ULK-1 expression, and reduce excessive alpha-globin content in erythroid precursors. These findings suggest that autophagy, ULK-1 expression, and alpha-globin chain reduction should be considered important endpoints in sirolimus-based clinical trials for beta-thalassemias.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Medicine, General & Internal
Tang-Her Jaing, Tsung-Yen Chang, Shih-Hsiang Chen, Chen-Wei Lin, Yu-Chuan Wen, Chia-Chi Chiu
Summary: Beta-thalassemia is a hereditary hematological disease caused by mutations in the beta-globin gene. Genetic studies have provided insights into disease severity prediction and management, with gene therapy representing a promising novel therapeutic approach. The expanding genome editing toolkit offers increased accuracy for personalized treatment strategies.
Article
Pharmacology & Pharmacy
Fizza Iftikhar, Muhammad Behroz Naeem Khan, Syed Ghulam Musharraf
Summary: This study identified three non-toxic monoterpenes with significant erythroid expansion ability in K562 cells, while four compounds showed high potency in inducing HbF at both transcriptional and protein levels in vitro. The findings suggest monoterpenes as potential therapeutic agents for beta-thalassemia and sickle cell anemia, pending further mechanistic elucidation.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2021)
Article
Virology
Ekati Drakopoulou, Maria Georgomanoli, Carsten W. Lederer, Fottes Panetsos, Marina Kleanthous, Ersi Voskaridou, Dimitrios Valakos, Eleni Papanikolaou, Nicholas P. Anagnou
Summary: This study demonstrates the efficacy of the optimized gamma-globin lentiviral vector in improving the phenotype of sickle cell disease in vitro, highlighting its potential for future clinical trials.
Article
Chemistry, Applied
Maedeh Alipour, Nahid Nasiri, Fariba Kazemi, Farahnaz Zare, Sedigheh Sharifzadeh
Summary: The combination of resveratrol and hydroxyurea was found to effectively increase the expression of the gamma-globin gene, reduce reactive oxygen species levels, and alleviate the adverse effects of hydroxyurea.
NATURAL PRODUCT RESEARCH
(2023)
Article
Pharmacology & Pharmacy
Faisal Khan, Hamad Ali, Syed Ghulam Musharraf
Summary: Sickle-cell disease and beta-thalassemia are global public health issues. This study demonstrates the effectiveness of Tenofovir disoproxil fumarate in promoting erythroid proliferation, differentiation, and HbF expression, providing a potential therapy for beta-hemoglobinopathies.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Dina Zhu, Linlin Xu, Yanxia Zhang, Guanxia Liang, Xiaofeng Wei, Liyan Li, Wangjie Jin, Xuan Shang
Summary: This study identified two novel CNVs in two Chinese families with thalassemia patients and provided a comprehensive summary and discussion on the detailed information and mechanisms of these CNVs. The molecular structure characteristics of all known CNVs involving the alpha-globin gene cluster were analyzed and the possible mechanisms were explored.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Biochemistry & Molecular Biology
Rossella Daidone, Antonella Carollo, Maria Patrizia Perricone, Renato Messina, Carmela Rita Balistreri
Summary: Thalassemia is a Mendelian inherited blood disease caused by gene mutations, and it is a major health problem in Mediterranean populations. This study investigated the distribution of gene defects in the Trapani province population and found high frequencies of certain mutations in the alpha and beta globin genes. The findings highlight the importance of carrier screening and prenatal diagnosis, as well as the need for public awareness campaigns and screening programs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Chemistry, Multidisciplinary
Chaonan Li, Ya Wang, Zihao Wang, Xiaogang Li
Summary: Researchers improved the safety of the widely used herbicide paraquat by developing a new formulation based on photoresponsive polymers. They synthesized beta-cyclodextrin polymer microspheres that released paraquat upon exposure to UV light, showing comparable herbicidal capacity to free paraquat. This study provides a new approach for developing safer and environmentally friendly herbicides.
Article
Genetics & Heredity
Shuang-Ping Ma, Xu-Xia Gao, Guo-Qiang Zhou, Hao-Kun Zhang, Jing-Min Yang, Wen-Juan Wang, Xian-Min Song, Hong-Yan Chen, Da-Ru Lu
Summary: Reactivation of fetal hemoglobin by editing the B-cell lymphoma/leukemia 11A (BCL11A) erythroid enhancer is an effective gene therapy for beta-thalassemia. In this study, it was found that the transfection efficiency of CD34(+) hematopoietic stem/progenitor cells (HSPCs) was negatively correlated with plasmid length and greatly affected by plasmid linearization. The use of minicircles (MC) DNA without plasmid backbone sequences was shown to be a better method for transgene expression both in vitro and in vivo. The developed MC DNA vector provided a safe and efficient approach for delivering the Cas9 cassette and reactivating gamma-globin expression to ameliorate symptoms of beta-thalassemia.
Article
Hematology
Giuseppina Calvaruso, Angela Vitrano, Rosario Di Maggio, Eliana Lai, Grazia Colletta, Alessandra Quota, Calogera Gerardi, Luciana Concetta Rigoli, Massimiliano Sacco, Lorella Pitrolo, Aurelio Maggio
AMERICAN JOURNAL OF HEMATOLOGY
(2015)
Article
Hematology
Alister P. W. Funnell, Paolo Prontera, Valentina Ottaviani, Maria Piccione, Antonino Giambona, Aurelio Maggio, Fiorella Ciaffoni, Sandra Stehling-Sun, Manuela Marra, Francesca Masiello, Lilian Varricchio, John A. Stamatoyannopoulos, Anna R. Migliaccio, Thalia Papayannopoulou
Article
Cardiac & Cardiovascular Systems
Maddalena Casale, Antonella Meloni, Aldo Filosa, Liana Cuccia, Vincenzo Caruso, Giovanni Palazzi, Maria Rita Gamberini, Lorella Pitrolo, Maria Caterina Putti, Domenico Giuseppe D'Ascola, Tommaso Casini, Antonella Quarta, Aurelio Maggio, Maria Giovanna Neri, Vincenzo Positano, Cristina Salvatori, Patrizia Toia, Gianluca Valeri, Massimo Midiri, Alessia Pepe
CIRCULATION-CARDIOVASCULAR IMAGING
(2015)
Article
Biochemistry & Molecular Biology
Alice Pecoraro, Antonio Troia, Roberta Calzolari, Concetta Scazzone, Paolo Rigano, Adriana Martorana, Massimiliano Sacco, Aurelio Maggio, Rosalba Di Marzo
Article
Medicine, General & Internal
A. Giambona, G. Damiani, M. Vinciguerra, C. Jakil, M. Cannata, F. Cassara, F. Picciotto, G. Schillaci, V. Cigna, D. Renda, F. Leto, C. Passarello, A. Maggio
INTERNATIONAL JOURNAL OF CLINICAL PRACTICE
(2015)
Article
Hematology
M. Vinciguerra, C. Passarello, F. Cassara, F. Leto, M. Cannata, G. Calvaruso, R. Di Maggio, D. Renda, A. Maggio, A. Giambona
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2016)
Article
Hematology
Angela Vitrano, Giuseppina Calvaruso, Lorenzo Tese, Francesco Gioia, Filippo Cassara, Saveria Campisi, Franco Butera, Valeria Commendatore, Michele Rizzo, Vincenzo Santoro, Valeria Cigna, Alessandra Quota, Sabrina Bagnato, Crocetta Argento, Carmelo Fidone, Dario Schembari, Calogera Gerardi, Filippo Barbiera, Giuseppe Bellisssima, Giovanni Giugno, Gesualdo Polizzi, Rosamaria Rosso, Giovanna Abbate, Vincenzo Caruso, Elisabetta Chiodi, Maria Rita Gamberini, Benedetta Giorgi, Maria Caterina Putti, Aldo Filosa, Maria Rosaria De Ritis, Esther Oliva, Nicola Arcadi, Maria Fustaneo, Laura Mistretta, Rosario Di Maggio, Massimiliano Sacco, Di Salvo Veronica, Antonino Giangreco, Aurelio Maggio
EUROPEAN JOURNAL OF HAEMATOLOGY
(2016)
Article
Hematology
Rosa Conte, Lucia Ruggieri, Arianna Gambino, Franco Bartoloni, Paola Baiardi, Donato Bonifazi, Fedele Bonifazi, Mariagrazia Felisi, Viviana Giannuzzi, Rosa Padula, Alessia Pepe, Maria Caterina Putti, Giovanni Carlo Del Vecchio, Aurelio Maggio, Aldo Filosa, Angela Iacono, Laura Mangiarini, Adriana Ceci
Article
Biochemistry & Molecular Biology
Margherita Vinciguerra, Cristina Passarello, Filippo Leto, Anna Crivello, Maria Fustaneo, Filippo Cassara, Monica Cannata, Aurelio Maggio, Antonino Giambona
Article
Biochemistry & Molecular Biology
Margherita Vinciguerra, Cristina Passarello, Filippo Cassara, Filippo Leto, Monica Cannata, Anna Crivello, Veronica Di Salvo, Aurelio Maggio, Antonino Giambona
Article
Hematology
Elena D'Alcamo, V. Agrigento, L. Pitrolo, S. Sclafani, R. Barone, G. Calvaruso, V. Buffa, A. Maggio
INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION
(2016)
Letter
Hematology
A. Pecoraro, A. Troia, M. Sacco, A. Maggio, R. Di Marzo, M. Gioia
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2016)
Article
Genetics & Heredity
Antonino Giambona, Gianfranca Damiani, Filippo Leto, Cristina Jakil, Disma Renda, Valentina Cigna, Giovanna Schillaci, Francesco Picciotto, Kypros H. Nicolaides, Cristina Passarello, George Makrydimas, Aurelio Maggio
PRENATAL DIAGNOSIS
(2016)
Article
Hematology
Elena D'Alcamo, V. Agrigento, L. Pitrolo, S. Sclafani, R. Barone, G. Calvaruso, V. Buffa, A. Maggio
INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION
(2016)
Article
Biochemistry & Molecular Biology
Elena Baiamonte, Giovanni Spinelli, Aurelio Maggio, Santina Acuto, Vincenzo Cavalieri
NUCLEIC ACID THERAPEUTICS
(2016)