Haematologica
Loss of KDEL function from a calreticulin frameshift mutation drives expression of an immature, mutant calreticulin-dependent form of the thrombopoietin receptor MPL.
Nami Masubuchi, Yinjie Yang, Misa Imai, Yoshihiko Kihara, Soji Morishita, Yoko Edahiro, Norio Komatsu
Published: 202510.3324/haematol.2025.287585
Abstract
Mutant calreticulin (CALR) activates the thrombopoietin (TPO) receptor MPL, thereby inducing the development of essential thrombocythemia and primary myelofibrosis. Mutant CALR, due to a frameshift mutation, loses the endoplasmic reticulum (ER) reten…
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