Results 91 to 100 of about 511,787 (144)

SLC25A38 is required for mitochondrial pyridoxal 5’-phosphate (PLP) accumulation

Nature Communications
Many essential proteins require pyridoxal 5’-phosphate, the active form of vitamin B6, as a cofactor for their activity. These include enzymes important for amino acid metabolism, one-carbon metabolism, polyamine synthesis, erythropoiesis, and ...
Izabella A. Pena, Jeffrey S. Shi, Sarah M. Chang, Jason Yang, Samuel Block, Charles H. Adelmann, Heather R. Keys, Preston Ge, Shveta Bathla, Isabella H. Witham, Grzegorz Sienski, Angus C. Nairn, David M. Sabatini, Caroline A. Lewis, Nora Kory, Matthew G. Vander Heiden, Myriam Heiman   +16 more
doaj   +1 more source

SIFD-associated TRNT1 deficiency unveils importance of TSPO during macrophage antibacterial and antiviral responses

Frontiers in Immunology
IntroductionMitochondria support cellular biosynthetic and bioenergetic demands and mediate cell signaling. Their dysfunction is implicated in a wide range of diseases, including congenital disorders.
Duale Ahmed, Angelo Slade, Thet Fatica, Thet Fatica, Stephen Baird, Krishna Bhattarai, Thérèse Atallah, Edana Cassol, Martin Holcik   +8 more
doaj   +1 more source

Whole Blood Transcriptome Analysis in Congenital Anemia Patients

Congenital anemias include a broad range of disorders marked by inherent abnormalities in red blood cells. These abnormalities include enzymatic, membrane, and congenital defects in erythropoiesis, as well as hemoglobinopathies such as sickle cell ...
Elena Martínez-Balsalobre, Eulalia Campos Baños, Encarna Guillén-Navarro, Veronica Navarro-Ramirez, María Asunción Beltrán Videla, Ana Belén Pérez-Oliva, Miriam Pinilla, Eduardo Salido-Fierrez, Maria Sanchez-Villalobos   +8 more
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A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome

, 2011
A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA ...
Peter Hickey (3484085), Richard Giegé (28490), Alison Compton (13492513), Mike Ryan (19213375), David Thorburn (13492525), Matthew McKenzie (13084017), John Christodoulou⁎ (19213378), Joëlle Rudinger-Thirion (807041), Lisa Riley (11328381), Melanie Bahlo (54258), Sandra Cooper (3486899)   +10 more
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A Case Report of Inflammatory Myopathy and Sideroblastic Anemia

, 2007
Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
M Mortazavi Zadeh, R Fallah, F Binesh
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Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia

, 2003
The sideroblastic anemias are characterized by ring sideroblasts, that is, red cell precursors with mitochondrial iron accumulation. We therefore studied the expression of mitochondrial ferritin (MtF) in these conditions.
TRAVAGLINO E, BIASIOTTO, Giorgio, AROSIO, Paolo, CAZZOLA M, CORSI B, DRYSDALE J, INVERNIZZI R, BERGAMASCHI G, LEVI S, ROLANDI V   +9 more
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Congenital Dyserythropoetic Anemia with Sideroblasts and Ringed Forms

Annals of Saudi Medicine, 2002
Khaled Kamaleddin, Mohamed, Abdulatif, Alfaraidy   +1 more
openaire   +2 more sources

Reduced Toxicity Allogeneic Transplant for Congenital Sideroblastic Anemia [PDF]

Biology of Blood and Marrow Transplantation, 2016
Kim, Min Hee, Shah, Sanjay, Adams, Roberta H., Bottomley, Sylvia, Shah, Niketa C.   +4 more
openaire   +1 more source

Transfusion dependent congenital sideroblastic anemia

Journal of Applied Hematology, 2013
NasirA Bakshi, Yasmeen Abulkhair
openaire   +1 more source

Sickle Hemoglobin and Sideroblastic Anemia

, 2002
dimorphic smear in patient with Hb SS and acute onset of sideroblastic ...
Lawrence, Christine
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