Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia

Thrombosis and Haemostasis

Volumn 109, Issue 2, 2013, Pages 263-271

  Necchi, Vittorio ^a   Balduini, Alessandra ^a,b   Noris, Patrizia ^a   Barozzi, Serena ^a   Sommi, Patrizia ^a,c   di Buduo, Christian ^a   Balduini, Carlo L ^a   Solcia, Enrico ^a,c   Pecci, Alessandro ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b Tufts University   (United States)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

ANKRD26 related thrombocytopenia; Dysmegakaryopoiesis; Inherited thrombocytopenia; Ubiquitin proteasome system

Indexed keywords

PROTEASOME; UBIQUITIN;

ADULT; AGED; ANKRD26 GENE; ARTICLE; CELL FRACTIONATION; CELL ULTRASTRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; ELECTRON MICROSCOPY; FEMALE; GENE; GENE MUTATION; GRANULOCYTE; HUMAN; IMMUNOBLOTTING; IMMUNOGOLD STAINING; IMMUNOREACTIVITY; MALE; MEGAKARYOCYTE; MEMBRANE MICROPARTICLE; PRIORITY JOURNAL; THROMBOCYTE; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

ADULT; AGED; BLOOD PLATELETS; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CYTOPLASMIC STRUCTURES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MEGAKARYOCYTES; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEASOME ENDOPEPTIDASE COMPLEX; THROMBOCYTOPENIA; UBIQUITINATION; YOUNG ADULT;

EID: 84873287311     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH12-07-0497     Document Type: Article

References (23)

1. Pippucci T, Savoia A, Perrotta S, et al. Mutations in the 5' UTR of ANKRD26, the Ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Gen 2011; 88: 115-120.
2. Noris P, Perrotta S, Seri M, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011; 117: 6673-6680.
3. Liu XF, Bera TK, Liu LJ, et al. A primate-specific POTE-actin fusion protein plays a role in apoptosis. Apoptosis 2009; 14: 1237-1244.
4. Necchi V, Sommi P, Ricci V, Solcia E. In vivo accumulation of Helicobacter pylori products, NOD1, ubiquitinated proteins and proteasome in a novel cytoplasmic structure. PLoS One 2010; 5: e9716.
5. Necchi V, Sommi P, Vanoli A, et al. Proteasome particle-rich structures are widely present in human epithelial neoplasms: correlative light, confocal and electron microscopy study. PLoS One 2011; 8: e21317.
6. Necchi V, Minelli A, Sommi P, et al. Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Schwachman-Diamond syndrome. Haematologica 2012; Epub ahead of print.
7. Boocock GR, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003; 33: 97-101.
8. Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011; 154: 161-174.
9. Noris P, Perrotta S, Bottega R, et al. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb_ (Bolzano mutation). Haematologica 2012; 97: 82-88.
10. Provan D, Stasi R, Newland AC, et al. International consensus report on the investigation and management of primary immune thrombocytopenia. Blood 2010; 115: 168-186.
11. Pecci A, Canobbio I, Balduini A, et al. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet 2005; 14: 3169-3178.
12. Pecci A, Malara A, Badalucco S, et al. Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. Thromb Haemost 2009; 102: 90-96.
13. Balduini A, Malara A, Pecci A, et al. Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. J Thromb Haemost 2009; 7: 478-484.
14. Necchi V, Candusso ME, Tava F, et al. Intracellular, intercellular, and stromal invasion of gastric mucosa, preneoplastic lesions, and cancer by Helicobacter pylori. Gastroenterology 2007; 132: 1009-1023.
15. Mason KD, Carpinelli MR, Fletcher JI, et al. Programmed anuclear cell death delimits platelet life span. Cell 2007; 128: 1173-1186.
16. Jesenberger V, Jentsch S. Deadly encounter: ubiquitin meets apoptosis. Nat Rev Mol Cell Biol 2002; 3: 112-121.
17. Dror Y, Freedman MH. Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. Blood 2001; 97: 3011-3016.
18. Suber T, Rosen A. Apoptotic cell blebs: repositories of autoantigens and contributors to immune context. Arthritis Rheum 2009; 60: 2216-2219.
19. Pitzer F, Dantes A, Fuchs T, et al. Removal of proteasomes from the nucleus and their accumulation in apoptotic blebs during programmed cell death. FEBS Lett 1996; 394: 47-50.
20. Viala J, Chaput C, Boneca IG, et al. Nod1 responds to peptidogycan delivered by the Helicobacter pylori cag pathogenicity island. Nat Immunol 2004; 5: 1166-1174.
21. Hatakeyama M. Oncogenic mechanisms of the Helicobacter pylori CagA protein. Nat Rev Cancer 2004; 4: 688-694.
22. Sahab ZJ, Hall MD, Zhang L, et al. Tumor suppressor RARRES1 regulates DLG2, PP2A, VCP, EB1, and Ankrd26. J Cancer 2010; 2: 14-22.
23. Bera TK, Saint Fleur A, Lee Y, et al. POTE paralogs are induced and differentially expressed in many cancers. Cancer Res. 2006; 66: 52-56.