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Transcript
Homozygous calreticulin mutations in patients with
myelofibrosis lead to acquired myeloperoxidase deficiency
by Alexandre P. A. Theocharides, Pontus Lundberg, Asvin K. K. Lakkaraju, Veronika
Lysenko, Renier Myburgh, Adriano Aguzzi, Radek C. Skoda, and Markus G. Manz
Blood
Volume 127(25):3253-3259
June 23, 2016
©2016 by American Society of Hematology
Analysis of MPO deficiency in an MPN patient cohort.
Alexandre P. A. Theocharides et al. Blood 2016;127:32533259
©2016 by American Society of Hematology
Homozygous CALR mutations lead to MPO and EPX deficiency.
Alexandre P. A. Theocharides et al. Blood 2016;127:32533259
©2016 by American Society of Hematology
Absence of functional CALR leads to MPO deficiency through proteasomal degradation of MPO.
(A) Expression of hMPO protein tagged with an Emerald-tag in mouse embryonic fibroblasts
(K41) and mouse embryonic fibroblasts derived from a CALR knockout mouse (K42).
Alexandre P. A. Theocharides et al. Blood 2016;127:32533259
©2016 by American Society of Hematology