Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
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Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblastsSystematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutationsHuman iron-sulfur cluster assembly, cellular iron homeostasis, and diseaseBiology of Heme in Mammalian Erythroid Cells and Related DisordersIron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryErythroid heme biosynthesis and its disordersReduction of mitoferrin results in abnormal development and extended lifespan in Caenorhabditis elegansMitochondrial ClpX Activates a Key Enzyme for Heme Biosynthesis and Erythropoiesis.Glycine and Folate Ameliorate Models of Congenital Sideroblastic AnemiaRefractory anemia with ring sideroblasts and RARS with thrombocytosisMitochondrial metabolite transportPhysiological and pathological roles of mitochondrial SLC25 carriersGaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imigluceraseCharacterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia.Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.Iron and porphyrin trafficking in heme biogenesis.SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability.SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.Heme metabolism and erythropoiesis.Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol.Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.Unstable reaction intermediates and hysteresis during the catalytic cycle of 5-aminolevulinate synthase: implications from using pseudo and alternate substrates and a promiscuous enzyme variant.Control of intracellular heme levels: heme transporters and heme oxygenasesMissense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.Role of heme in cardiovascular physiology and disease.Curcumin inhibits appoptosin-induced apoptosis via upregulating heme oxygenase-1 expression in SH-SY5Y cellsDeregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblastsATP Binding and Hydrolysis Properties of ABCB10 and Their Regulation by Glutathione.The long history of iron in the Universe and in health and disease.Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease.Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.Cellular and mitochondrial iron homeostasis in vertebratesAppoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis.One ring to rule them all: trafficking of heme and heme synthesis intermediates in the metazoansAppoptosin is a novel pro-apoptotic protein and mediates cell death in neurodegeneration.Protoporphyrin IX: the Good, the Bad, and the Ugly.Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors.Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology
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P2860
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@ast
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@en
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@en-gb
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@nl
type
label
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@ast
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@en
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@en-gb
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@nl
prefLabel
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@ast
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@en
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@en-gb
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@nl
P2093
P2860
P921
P356
P1433
P1476
Mutations in mitochondrial car ...... ongenital sideroblastic anemia
@en
P2093
Andrea Rideout
Andrew Orr
Conrad V Fernandez
Dean R Campagna
Duane L Guernsey
Haiyan Jiang
Louis Saint-Amant
Makoto Matsuoka
Mark E Samuels
Mark Ludman
P2860
P2888
P356
10.1038/NG.359
P407
P577
2009-06-01T00:00:00Z
P5875
P6179
1025799899