Pharmacological and molecular approaches for the treatment of β-hemoglobin disorders

Gene Therapy for β-Hemoglobinopathies

(2017) Marina Cavazzana et al.   MOLECULAR THERAPY

Existence of HbF Enhancer Haplotypes atHBS1L-MYBIntergenic Region in Transfusion-Dependent Saudiβ-Thalassemia Patients

(2017) Cyril Cyrus et al.   Biomed Research International

Customizing the genome as therapy for the β-hemoglobinopathies

(2016) Matthew C. Canver et al.   BLOOD

Forced chromatin looping raises fetal hemoglobin in adult sickle cells to higher levels than pharmacologic inducers

(2016) L. Breda et al.   BLOOD

Non-viral delivery of genome-editing nucleases for gene therapy

(2016) M Wang et al.   GENE THERAPY

Plerixafor and G-CSF combination mobilizes hematopoietic stem and progenitors cells with a distinct transcriptional profile and a reduced in vivo homing capacity compared to plerixafor alone

(2016) Maria Rosa Lidonnici et al.   HAEMATOLOGICA

Cell and Gene Therapy for the Beta-Thalassemias: Advances and Prospects

(2016) Jorge Mansilla-Soto et al.   HUMAN GENE THERAPY

Programmable Site-Specific Nucleases for Targeted Genome Engineering in Higher Eukaryotes

(2016) Ganesan Govindan et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype

(2016) Christian Brendel et al.   JOURNAL OF CLINICAL INVESTIGATION

CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells

(2016) Daniel P. Dever et al.   NATURE

A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition

(2016) Elizabeth A Traxler et al.   NATURE MEDICINE

Chemical Inhibition of Histone Deacetylases 1 and 2 Induces Fetal Hemoglobin through Activation of GATA2

(2016) Jeffrey R. Shearstone et al.   PLoS One

Genome editing using CRISPR-Cas9 to create the HPFH genotype in HSPCs: An approach for treating sickle cell disease and β-thalassemia

(2016) Lin Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin

(2016) T. Masuda et al.   SCIENCE

Selection-free genome editing of the sickle mutation in human adult hematopoietic stem/progenitor cells

(2016) M. A. DeWitt et al.   Science Translational Medicine

Plerixafor and G-CSF combination mobilizes hematopoietic stem and progenitors cells with a distinct transcriptional profile and a reduced in vivo homing capacity compared to plerixafor alone

(2016) Maria Rosa Lidonnici et al.   HAEMATOLOGICA

Reactivating Fetal Hemoglobin Expression in Human Adult Erythroblasts Through BCL11A Knockdown Using Targeted Endonucleases

(2016) Carmen F Bjurström et al.   Molecular Therapy-Nucleic Acids

563. Generation and Genetic Correction of Patient-Derived Disease-Specific Human Induced Pluripotent Stem Cells Using Gene Editing Nucleases

(2016)   MOLECULAR THERAPY

The Combination of CRISPR/Cas9 and iPSC Technologies in the Gene Therapy of Human β-thalassemia in Mice

(2016) Zhanhui Ou et al.   Scientific Reports

Inactivation of HDAC1 or HDAC2 induces gamma globin expression without altering cell cycle or proliferation

(2015) Erica B. Esrick et al.   AMERICAN JOURNAL OF HEMATOLOGY

Correction of the sickle cell disease mutation in human hematopoietic stem/progenitor cells

(2015) M. D. Hoban et al.   BLOOD

The LSD1 inhibitor RN-1 induces fetal hemoglobin synthesis and reduces disease pathology in sickle cell mice

(2015) S. Cui et al.   BLOOD

BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia

(2015) P. Sebastiani et al.   BLOOD CELLS MOLECULES AND DISEASES

Validation of a novel point of care testing device for sickle cell disease

(2015) Julie Kanter et al.   BMC Medicine

The Application of CRISPR-Cas9 Genome Editing in Caenorhabditis elegans

(2015) Suhong Xu   Journal of Genetics and Genomics

BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis

(2015) Matthew C. Canver et al.   NATURE

Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers

(2015) Isaac B Hilton et al.   NATURE BIOTECHNOLOGY

HDAC inhibitors still need a home run, despite recent approval

(2015) Malini Guha   NATURE REVIEWS DRUG DISCOVERY

Epigenetic regulation of fetal globin gene expression in adult erythroid cells

(2015) Gordon D. Ginder   Translational Research

Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin

(2015) Beeke Wienert et al.   Nature Communications

Rewriting the blueprint of life by synthetic genomics and genome engineering

(2015) Narayana Annaluru et al.   GENOME BIOLOGY

Genetic variants at HbF-modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania

(2014) Siana Nkya Mtatiro et al.   AMERICAN JOURNAL OF HEMATOLOGY

Modulation of gamma globin genes expression by histone deacetylase inhibitors: anin vitrostudy

(2014) Luisa Ronzoni et al.   BRITISH JOURNAL OF HAEMATOLOGY

TALEN-Mediated Generation and Genetic Correction of Disease-Specific Human Induced Pluripotent Stem Cells

(2014) Sivaprakash Ramalingam et al.   CURRENT GENE THERAPY

HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers

(2014) Ralph Stadhouders et al.   JOURNAL OF CLINICAL INVESTIGATION

Fetal Globin Gene Repressors as Drug Targets for Molecular Therapies To Treat the  -Globinopathies

(2014) M. Suzuki et al.   MOLECULAR AND CELLULAR BIOLOGY

Whole Exome Sequencing Identifies Novel Genes for Fetal Hemoglobin Response to Hydroxyurea in Children with Sickle Cell Anemia

(2014) Vivien A. Sheehan et al.   PLoS One

LIN28B-mediated expression of fetal hemoglobin and production of fetal-like erythrocytes from adult human erythroblasts ex vivo

(2013) Y. T. Lee et al.   BLOOD

CAS9 transcriptional activators for target specificity screening and paired nickases for cooperative genome engineering

(2013) Prashant Mali et al.   NATURE BIOTECHNOLOGY

Locus-specific editing of histone modifications at endogenous enhancers

(2013) Eric M Mendenhall et al.   NATURE BIOTECHNOLOGY

Lysine-specific demethylase 1 is a therapeutic target for fetal hemoglobin induction

(2013) Lihong Shi et al.   NATURE MEDICINE

Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy

(2013) Christina Tafrali et al.   PHARMACOGENOMICS

MicroRNA-486-3p Regulates γ-Globin Expression in Human Erythroid Cells by Directly Modulating BCL11A

(2013) Valentina Lulli et al.   PLoS One

Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A

(2013) J. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering

(2013) Thomas Gaj et al.   TRENDS IN BIOTECHNOLOGY

The Switch from Fetal to Adult Hemoglobin

(2013) V. G. Sankaran et al.   Cold Spring Harbor Perspectives in Medicine

The Molecular Basis of  -Thalassemia

(2013) S. L. Thein   Cold Spring Harbor Perspectives in Medicine

Induced Pluripotency for Translational Research

(2013) Menghua Wu et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Reawakening fetal hemoglobin: prospects for new therapies for the  -globin disorders

(2012) D. E. Bauer et al.   BLOOD

Epigenetic Alterations in Human Pluripotent Stem Cells: A Tale of Two Cultures

(2012) Anton Wutz   Cell Stem Cell

KLF10gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients

(2012) Joseph Borg et al.   PHARMACOGENOMICS

Cas9-crRNA ribonucleoprotein complex mediates specific DNA cleavage for adaptive immunity in bacteria

(2012) G. Gasiunas et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin

(2011) V. G. Sankaran et al.   BLOOD

Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities

(2011) A. Wilber et al.   BLOOD

A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

(2011) J. J. Farrell et al.   BLOOD

Site-specific gene correction of a point mutation in human iPS cells derived from an adult patient with sickle cell disease

(2011) J. Zou et al.   BLOOD

Hydroxyurea for sickle cell anemia: what have we learned and what questions still remain?

(2011) Patrick T McGann et al.   CURRENT OPINION IN HEMATOLOGY

An integrated approach to dissecting oncogene addiction implicates a Myb-coordinated self-renewal program as essential for leukemia maintenance

(2011) J. Zuber et al.   GENES & DEVELOPMENT

Nuclear Receptors TR2 and TR4 Recruit Multiple Epigenetic Transcriptional Corepressors That Associate Specifically with the Embryonic  -Type Globin Promoters in Differentiated Adult Erythroid Cells

(2011) S. Cui et al.   MOLECULAR AND CELLULAR BIOLOGY

Correction of Sickle Cell Disease in Adult Mice by Interference with Fetal Hemoglobin Silencing

(2011) J. Xu et al.   SCIENCE

In Situ Genetic Correction of the Sickle Cell Anemia Mutation in Human Induced Pluripotent Stem Cells Using Engineered Zinc Finger Nucleases

(2011) Vittorio Sebastiano et al.   STEM CELLS

A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

(2010) Lionel Arnaud et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Therapeutic levels of fetal hemoglobin in erythroid progeny of  -thalassemic CD34+ cells after lentiviral vector-mediated gene transfer

(2010) A. Wilber et al.   BLOOD

The inherited diseases of hemoglobin are an emerging global health burden

(2010) D. J. Weatherall   BLOOD

Update on fetal hemoglobin gene regulation in hemoglobinopathies

(2010) Daniel E Bauer et al.   CURRENT OPINION IN PEDIATRICS

Correction of β-thalassemia major by gene transfer in haematopoietic progenitors of pediatric patients

(2010) Emanuela Anna Roselli et al.   EMBO Molecular Medicine

Transcriptional silencing of  -globin by BCL11A involves long-range interactions and cooperation with SOX6

(2010) J. Xu et al.   GENES & DEVELOPMENT

Targeting DNA Double-Strand Breaks with TAL Effector Nucleases

(2010) M. Christian et al.   GENETICS

Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia

(2010) Marina Cavazzana-Calvo et al.   NATURE

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

(2010) Joseph Borg et al.   NATURE GENETICS

KLF1 regulates BCL11A expression and γ- to β-globin gene switching

(2010) Dewang Zhou et al.   NATURE GENETICS

Beta-thalassemia

(2010) Renzo Galanello et al.   Orphanet Journal of Rare Diseases

Chemical genetic strategy identifies histone deacetylase 1 (HDAC1) and HDAC2 as therapeutic targets in sickle cell disease

(2010) James E. Bradner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis

(2010) Frédéric B. Piel et al.   Nature Communications

The effect of prolonged administration of hydroxyurea on morbidity and mortality in adult patients with sickle cell syndromes: results of a 17-year, single-center trial (LaSHS)

(2009) E. Voskaridou et al.   BLOOD

Amelioration of Sardinian  0 thalassemia by genetic modifiers

(2009) R. Galanello et al.   BLOOD

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells

(2009) K. Wahlberg et al.   BLOOD

A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E

(2009) Manit Nuinoon et al.   HUMAN GENETICS

Developmental and species-divergent globin switching are driven by BCL11A

(2009) Vijay G. Sankaran et al.   NATURE

Global epidemiology of haemoglobin disorders and derived service indicators

(2008) Bernadette Modell   BULLETIN OF THE WORLD HEALTH ORGANIZATION

A T-to-G Transversion at Nucleotide -567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F

(2008) Z. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

Silencing of A -Globin Gene Expression during Adult Definitive Erythropoiesis Mediated by GATA-1-FOG-1-Mi2 Complex Binding at the -566 GATA Site

(2008) S. Harju-Baker et al.   MOLECULAR AND CELLULAR BIOLOGY

In vivo selection of genetically modified erythroblastic progenitors leads to long-term correction of  -thalassemia

(2008) A. Miccio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of  -thalassemia

(2008) M. Uda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fetal Hemoglobin Inducers from the Natural World: A Novel Approach for Identification of Drugs for the Treatment of β-Thalassemia and Sickle-Cell Anemia

(2007) Nicoletta Bianchi et al.   Evidence-based Complementary and Alternative Medicine