Edward Benz Jr., M.D.
President and CEO Emeritus, Dana-Farber Cancer Institute
Richard and Susan Smith Distinguished Professor of Medicine, Professor of Pediatrics, Professor of Genetics, Harvard Medical School
In erythrocytes, Protein 4.1R is essential for membrane integrity. Deficiencies cause congenital hemolytic anemia. We have shown that there are many isoforms of P4.1R in other tissues. These participate in the mitotic apparatus, costameres, tight junctions, and adherens junctions. We are studying the structure function relationships of these isoforms. We also study the regulated pre-mRNA splicing events that govern their tissue and differentiation stage expression. We have identified a novel splicing factor induced during erythropoiesis that is critical to regulated P4.1R splicing and have characterized the mechanism by which it alters splicing.
Na, K-ATPase isoform gene expression in normal and hypertrophied dog heart.
Authors: Authors: Zahler R, Gilmore-Hebert M, Sun W, Benz EJ.
Basic Res Cardiol
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Basic Res Cardiol
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The thalassemia syndromes: lessons from molecular medicines index case.
Gene therapy in hematology.
Molecular cloning and functional expression of the bumetanide-sensitive Na-K-Cl cotransporter.
Authors: Authors: Xu JC, Lytle C, Zhu TT, Payne JA, Benz E, Forbush B.
Proc Natl Acad Sci U S A
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Proc Natl Acad Sci U S A
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Tissue-specific alternative splicing of protein 4.1 inserts an exon necessary for formation of the ternary complex with erythrocyte spectrin and F-actin.
Authors: Authors: Horne WC, Huang SC, Becker PS, Tang TK, Benz EJ.
Blood
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Blood
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