The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are common disorders of erythrocyte shape primarily because of mutations in spectrin. The most common HE/HPP mutations are located distant from the critical αβ-spectrin tetramerization site, yet still interfere with formation of...

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Main Authors: Harper, Sandra L., Sriswasdi, Sira, Tang, Hsin-Yao, Gaetani, Massimiliano, Gallagher, Patrick G., Speicher, David W.
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Hematology 2013
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3811177/
https://ncbi.nlm.nih.gov/pubmed/23974198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-02-487702
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