Article

Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype

2022-09-02

Abstract excerpt

β-thalassemia is a prevalent genetic disorder causing severe anemia due to defective erythropoiesis, with few treatment options. Studying the underlying molecular defects is impeded by paucity of suitable patient material. In this study we created human disease cellular model systems for β-thalassemia, which accurately recapitulate the phenotype of patient erythroid cells. We also developed a high throughput compa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 487b52dc-51ab-5159-b635-82f54b201b16
DOI: 10.1101/2022.09.01.506225

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotypeDOI 10.1101/2022.09.01.506225Read

Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype.Semantic proximity Read

Development of pathophysiologically relevant models of sickle cell disease and β-thalassemia for therapeutic studies.Semantic proximity Read

Plasma proteome profiling combined with clinical and genetic features reveals the pathophysiological characteristics of β-thalassemiaSemantic proximity Read

Pharmacoproteomics Profiling of Plasma From β‐Thalassemia Patients in Response to Hydroxyurea TreatmentSemantic proximity Read

Single-cell and bulk transcriptomic analyses identify HSP90AA1- associated oxidative stress adaptation during impaired erythroid differentiation in β-thalassemiaSemantic proximity Read

Whole Blood Transcriptome Analysis in Congenital Anemia PatientsSemantic proximity Read

Multi-Omics Analysis of Red Blood Cells Reveals Molecular Pathways Underlying Thalassemia Severity Beyond Globin Gene MutationsSemantic proximity Read

Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidationSemantic proximity Read

Defining curative endpoints for transfusion‐dependent β‐thalassemia in the era of gene therapy and gene editingSemantic proximity Read

New therapeutic targets in transfusion-dependent and -independent thalassemia.Semantic proximity Read

Comprehensive Proteomic Analysis of Human ErythropoiesisSemantic proximity Read

Integrative proteomics reveals principles of dynamic phosphosignaling networks in human erythropoiesisSemantic proximity Read