Page 32 - 2021_06-Haematologica-web
P. 32

Y. Mathangasinghe et al.
dent myeloproliferative neoplasms in mice
and humans. J Clin Invest. 2010;120(10):
3578-3593.
127. Nathan DG, Clarke BJ, Hillman DG, Alter
BP, Housman DE. Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. J Clin Invest. 1978;61(2):489-498.
128. Ohene-Abuakwa Y, Orfali KA, Marius C, Ball SE. Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect. Blood. 2005;105(2):838-846.
129. Choesmel V, Fribourg S, Aguissa-Touré A-H, et al. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. Hum Mol Genet. 2008;17(9):1253-1263.
130.Farrar JE, Nater M, Caywood E, et al. Abnormalities of the large ribosomal sub- unit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008;112(5):1582-1592.
131. Quarello P, Garelli E, Brusco A, et al. High frequency of ribosomal protein gene dele- tions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation- dependent probe amplification assay. Haematologica. 2012;97(12):1813-1817.
132. Ludwig LS, Gazda HT, Eng JC, et al. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014;20(7):748-753.
133. Rio S, Gastou M, Karboul N, et al. Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1. Blood. 2019;133(12):1358-1370.
134.Gastou M, Rio S, Dussiot M, et al. The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70. Blood Adv. 2017;1(22):1959-1976.
135.Wilkes MC, Takasaki K, Youn M, Chae H-
D, Narla A, Sakamoto KM. Chromatin Organization By SATB1 Regulates HSP70 Induction in Early Erythropoiesis and Lost in Diamond Blackfan Anemia. Blood. 2018;132(Suppl 1):S2591.
136. Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked siderob- lastic anemia and ataxia (XLSA/A). Hum Mol Genet. 1999;8(5):743-749.
137. Liu G, Guo S, Anderson GJ, Camaschella C, Han B, Nie G. Heterozygous missense mutations in the GLRX5 gene cause siderob- lastic anemia in a Chinese patient. Blood. 2014;124(17):2750-2751.
138. Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, et al. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015;126(25): 2734-2738.
139. Furuyama K, Kaneko K. Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia. Int J Hematol. 2018;107(1):44-54.
140. Lefèvre C, Bondu S, Le Goff S, Kosmider O, Fontenay M. Dyserythropoiesis of myelodysplastic syndromes. Curr Opin Hematol. 2017;24(3):191-197.
141. Gazit R, Weissman IL, Rossi DJ. Hematopoietic stem cells and the aging hematopoietic system. Semin Hematol. 2008;45(4):218-224.
142. Pang Q, Keeble W, Christianson TA, Faulkner GR, Bagby GC. FANCC interacts with Hsp70 to protect hematopoietic cells from IFN-γ/TNF-α-mediated cytotoxicity. EMBO J. 2001;20(16):4478-4489.
143.Mortensen M, Soilleux EJ, Djordjevic G, et al. The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance. J Exp Med. 2011;208(3):455-467.
144. De Franceschi L, Bertoldi M, De Falco L, et al. Oxidative stress modulates heme synthe- sis and induces peroxiredoxin-2 as a novel cytoprotective response in b-thalassemic erythropoiesis. Haematologica. 2011;96(11): 1595-1604.
145. Higuchi-Sanabria R, Frankino PA, Paul III JW, Tronnes SU, Dillin A. A futile battle? Protein quality control and the stress of aging. Dev Cell. 2018;44(2):139-163.
146. Vilchez D, Saez I, Dillin A. The role of pro- tein clearance mechanisms in organismal ageing and age-related diseases. Nat Commun. 2014;5:5659.
147. Zhuravleva A, Clerico EM, Gierasch LM. An interdomain energetic tug-of-war creates the allosterically active state in Hsp70 molecular chaperones. Cell. 2012;151(6):1296-1307.
148. Rudiger S, Germeroth L, Schneider- Mergener J, Bukau B. Substrate specificity of the DnaK chaperone determined by screen- ing cellulose-bound peptide libraries. EMBO J. 1997;16(7):1501-1507.
149.Pesciotta EN, Lam H-S, Kossenkov A, et al. In-depth, label-free analysis of the erythro- cyte cytoplasmic proteome in diamond blackfan anemia identifies a unique inflam- matory signature. PLoS One. 2015;10(10): e0140036.
150.Cox J, Mann M. MaxQuant enables high peptide identification rates, individualized ppb-range mass accuracies and proteome- wide protein quantification. Nat Biotechnol. 2008;26(12):1367.
1534
haematologica | 2021; 106(6)


































































































   30   31   32   33   34