Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis

Author:

Glogowska Edyta1,Schneider Eve R.2,Maksimova Yelena1,Schulz Vincent P.1,Lezon-Geyda Kimberly1,Wu John3,Radhakrishnan Kottayam4,Keel Siobán B.5,Mahoney Donald6,Freidmann Alison M.7,Altura Rachel A.8,Gracheva Elena O.2910,Bagriantsev Sviatoslav N.2,Kalfa Theodosia A.11,Gallagher Patrick G.11213

Affiliation:

1. Department of Pediatrics and

2. Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, CT;

3. Division of Hematology, Oncology and Bone Marrow Transplant, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada;

4. Department of Paediatric Haematology/Oncology, Children’s Cancer Centre, Monash Children’s Hospital, Melbourne, VIC, Australia;

5. Division of Hematology, Department of Medicine, University of Washington, Seattle, WA;

6. Section of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, TX;

7. Division of Pediatric Hematology and Oncology, Department of Pediatrics, Massachusetts General Hospital, Boston, MA;

8. Division of Pediatric Hematology-Oncology, Department of Pediatrics, Warren Albert School of Medicine, Brown University, Providence, RI;

9. Department of Neuroscience and

10. Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University, New Haven, CT;

11. Cancer and Blood Diseases Institute, Children’s Hospital Medical Center, Cincinnati, OH; and

12. Department of Pathology and

13. Department of Genetics, Yale University School of Medicine, New Haven, CT

Abstract

Key Points There is heterogeneity in the clinical, laboratory, and genetic bases of HX. Alterations in PIEZO1 channel kinetics, response to osmotic stress, and membrane trafficking may contribute to channel dysfunction in HX.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference48 articles.

1. Disorders of red cell volume regulation;Gallagher;Curr Opin Hematol,2013

2. Hereditary xerocytosis revisited;Archer;Am J Hematol,2014

3. Hereditary spherocytosis, hereditary elliptocytosis, and other disorders associated with abnormalities of the erythrocyte membrane;Gallagher,2014

4. Disorders of erythrocyte volume homeostasis;Glogowska;Int J Lab Hematol,2015

5. Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred;Houston;Blood Cells Mol Dis,2011

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