Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants

Vardiman, 2009, The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes., Blood, 114, 937, 10.1182/blood-2009-03-209262 Vainchenker, 2013, JAK/STAT signaling in hematological malignancies., Oncogene, 32, 2601, 10.1038/onc.2012.347 Cazzola, 2014, From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms., Blood, 123, 3714, 10.1182/blood-2014-03-530865 Vainchenker, 2011, New mutations and pathogenesis of myeloproliferative neoplasms., Blood, 118, 1723, 10.1182/blood-2011-02-292102 Klampfl, 2013, Somatic mutations of calreticulin in myeloproliferative neoplasms., N Engl J Med, 369, 2379, 10.1056/NEJMoa1311347 Nangalia, 2013, Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2., N Engl J Med, 369, 2391, 10.1056/NEJMoa1312542 Marty, 2014, Calr mutants retroviral mouse models lead to a myeloproliferative neoplasm mimicking an essential thrombocythemia progressing to a myelofibrosis [abstract]., Blood, 124, 10.1182/blood.V124.21.157.157 Marty, Expression of calreticulin mutants in mice induce a MPL-dependent thrombocytosis progressing to myelofibrosis for the type I mutant [published online ahead of print November 25, 2015]., Blood Cabagnols, 2015, Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution., Leukemia, 29, 249, 10.1038/leu.2014.270 Pietra, 2015, Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms [published online ahead of print October 9, 2015]., Leukemia Staerk, 2011, Orientation-specific signalling by thrombopoietin receptor dimers., EMBO J, 30, 4398, 10.1038/emboj.2011.315 Royer, 2005, Janus kinases affect thrombopoietin receptor cell surface localization and stability., J Biol Chem, 280, 27251, 10.1074/jbc.M501376200 Albu, 2011, Extracellular domain N-glycosylation controls human thrombopoietin receptor cell surface levels., Front Endocrinol (Lausanne), 2, 71, 10.3389/fendo.2011.00071 Besancenot, 2010, A senescence-like cell-cycle arrest occurs during megakaryocytic maturation: implications for physiological and pathological megakaryocytic proliferation., PLoS Biol, 8, e1000476, 10.1371/journal.pbio.1000476 Pang, 2009, Interference RNA (RNAi)-based silencing of endogenous thrombopoietin receptor (Mpl) in Dami cells resulted in decreased hNUDC-mediated megakaryocyte proliferation and differentiation., Exp Cell Res, 315, 3563, 10.1016/j.yexcr.2009.06.020 da Costa Reis Monte-Mór, 2009, Constitutive JunB expression, associated with the JAK2 V617F mutation, stimulates proliferation of the erythroid lineage., Leukemia, 23, 144, 10.1038/leu.2008.275 Kohlhuber, 1997, A JAK1/JAK2 chimera can sustain alpha and gamma interferon responses., Mol Cell Biol, 17, 695, 10.1128/MCB.17.2.695 Mesaeli, 1999, Calreticulin is essential for cardiac development., J Cell Biol, 144, 857, 10.1083/jcb.144.5.857 Wood, 1997, Specificity of transcription enhancement via the STAT responsive element in the serine protease inhibitor 2.1 promoter., Mol Cell Endocrinol, 130, 69, 10.1016/S0303-7207(97)00075-0 Debili, 1996, Characterization of a bipotent erythro-megakaryocytic progenitor in human bone marrow., Blood, 88, 1284, 10.1182/blood.V88.4.1284.bloodjournal8841284 Remy, 2006, A highly sensitive protein-protein interaction assay based on Gaussia luciferase., Nat Methods, 3, 977, 10.1038/nmeth979 Defour, 2013, Tryptophan at the transmembrane-cytosolic junction modulates thrombopoietin receptor dimerization and activation., Proc Natl Acad Sci USA, 110, 2540, 10.1073/pnas.1211560110 Courtoy, 1993, Analytical subcellular fractionation of endosomal compartments in rat hepatocytes., Subcell Biochem, 19, 29, 10.1007/978-1-4615-3026-8_2 Choong, 2013, Combination treatment for myeloproliferative neoplasms using JAK and pan-class I PI3K inhibitors., J Cell Mol Med, 17, 1397, 10.1111/jcmm.12156 Chou, 2006, Theoretical basis, experimental design, and computerized simulation of synergism and antagonism in drug combination studies., Pharmacol Rev, 58, 621, 10.1124/pr.58.3.10 Michalak, 2009, Calreticulin, a multi-process calcium-buffering chaperone of the endoplasmic reticulum., Biochem J, 417, 651, 10.1042/BJ20081847 Huang, 2001, The N-terminal domain of Janus kinase 2 is required for Golgi processing and cell surface expression of erythropoietin receptor., Mol Cell, 8, 1327, 10.1016/S1097-2765(01)00401-4 Tong, 2006, The membrane-proximal region of the thrombopoietin receptor confers its high surface expression by JAK2-dependent and -independent mechanisms., J Biol Chem, 281, 38930, 10.1074/jbc.M607524200 Drachman, 1999, Thrombopoietin signal transduction requires functional JAK2, not TYK2., J Biol Chem, 274, 13480, 10.1074/jbc.274.19.13480 Kollmann, 2015, MARIMO cells harbor a CALR mutation but are not dependent on JAK2/STAT5 signaling., Leukemia, 29, 494, 10.1038/leu.2014.285 Guglielmelli, Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis [published online ahead of print August 25, 2015]., Br J Haematol Patel, 2015, Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib., Blood, 126, 790, 10.1182/blood-2015-03-633404 Passamonti, 2014, JAK inhibitor in CALR-mutant myelofibrosis., N Engl J Med, 370, 1168, 10.1056/NEJMc1400499 Bartalucci, 2013, Co-targeting the PI3K/mTOR and JAK2 signalling pathways produces synergistic activity against myeloproliferative neoplasms., J Cell Mol Med, 17, 1385, 10.1111/jcmm.12162 Bartalucci, 2013, Rationale for targeting the PI3K/Akt/mTOR pathway in myeloproliferative neoplasms., Clin Lymphoma Myeloma Leuk, 13, S307, 10.1016/j.clml.2013.07.011 Chen, 2010, Identification of the residues in the extracellular domain of thrombopoietin receptor involved in the binding of thrombopoietin and a nuclear distribution protein (human NUDC)., J Biol Chem, 285, 26697, 10.1074/jbc.M110.120956 Kapoor, 2004, Mutational analysis provides molecular insight into the carbohydrate-binding region of calreticulin: pivotal roles of tyrosine-109 and aspartate-135 in carbohydrate recognition., Biochemistry, 43, 97, 10.1021/bi0355286 Mondet, 2015, Endogenous megakaryocytic colonies underline association between megakaryocytes and calreticulin mutations in essential thrombocythemia., Haematologica, 100, e176, 10.3324/haematol.2014.118927 Seubert, 2003, Active and inactive orientations of the transmembrane and cytosolic domains of the erythropoietin receptor dimer., Mol Cell, 12, 1239, 10.1016/S1097-2765(03)00389-7 Matthews, 2011, Thrombopoietin receptor activation: transmembrane helix dimerization, rotation, and allosteric modulation., FASEB J, 25, 2234, 10.1096/fj.10-178673 Tefferi, 2014, Type 1 vs type 2 calreticulin mutations in primary myelofibrosis: differences in phenotype and prognostic impact., Leukemia, 28, 1568, 10.1038/leu.2014.83 Tefferi, 2014, Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients., Am J Hematol, 89, E121, 10.1002/ajh.23743 Yoshida, 1998, A novel myeloid cell line, Marimo, derived from therapy-related acute myeloid leukemia during treatment of essential thrombocythemia: consistent chromosomal abnormalities and temporary C-MYC gene amplification., Cancer Genet Cytogenet, 100, 21, 10.1016/S0165-4608(97)00017-4 Rampal, 2014, Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis., Blood, 123, e123, 10.1182/blood-2014-02-554634 Lau, 2015, The JAK-STAT signaling pathway is differentially activated in CALR-positive compared with JAK2V617F-positive ET patients., Blood, 125, 1679, 10.1182/blood-2014-12-618074