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Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family
G. D. van Waveren Hogervorst et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2010)
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches
Stephane Schmucker et al.
HUMAN MOLECULAR GENETICS (2010)
Characterization of the human HSC20, an unusual DnaJ type III protein, involved in iron-sulfur cluster biogenesis
Helge Uhrigshardt et al.
HUMAN MOLECULAR GENETICS (2010)
Mitochondrial Iron Metabolism and Its Role in Neurodegeneration
Maxx P. Horowitz et al.
JOURNAL OF ALZHEIMERS DISEASE (2010)
Normal and Friedreich Ataxia Cells Express Different Isoforms of Frataxin with Complementary Roles in Iron-Sulfur Cluster Assembly
Oleksandr Gakh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts
Hong Ye et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich's ataxia
Des R. Richardson et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2010)
The Role of Coa2 in Hemylation of Yeast Cox1 Revealed by Its Genetic Interaction with Cox10
Megan Bestwick et al.
MOLECULAR AND CELLULAR BIOLOGY (2010)
Formation of the Redox Cofactor Centers during Cox1 Maturation in Yeast Cytochrome Oxidase
Oleh Khalimonchuk et al.
MOLECULAR AND CELLULAR BIOLOGY (2010)
The Fowler Syndrome-Associated Protein FLVCR2 Is an Importer of Heme
Simon P. Duffy et al.
MOLECULAR AND CELLULAR BIOLOGY (2010)
Analysis of Leigh Syndrome Mutations in the Yeast SURF1 Homolog Reveals a New Member of the Cytochrome Oxidase Assembly Factor Family
Megan Bestwick et al.
MOLECULAR AND CELLULAR BIOLOGY (2010)
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Sarah E. Calvo et al.
NATURE GENETICS (2010)
MicroRNA-210 Regulates Mitochondrial Free Radical Response to Hypoxia and Krebs Cycle in Cancer Cells by Targeting Iron Sulfur Cluster Protein ISCU
Elena Favaro et al.
PLOS ONE (2010)
Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis
Alex D. Sheftel et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Structural bases for the interaction of frataxin with the central components of iron-sulphur cluster assembly
Filippo Prischi et al.
NATURE COMMUNICATIONS (2010)
Structural Basis for Fe-S Cluster Assembly and tRNA Thiolation Mediated by IscS Protein-Protein Interactions
Rong Shi et al.
PLOS BIOLOGY (2010)
Mitochondrial Glutathione, a Key Survival Antioxidant
Montserrat Mari et al.
ANTIOXIDANTS & REDOX SIGNALING (2009)
Overexpression of Drosophila mitoferrin in I(2)mbn cells results in dysregulation of Fer1HCH expression
Christoph Metzendorf et al.
BIOCHEMICAL JOURNAL (2009)
The Yeast Iron Regulatory Proteins Grx3/4 and Fra2 Form Heterodimeric Complexes Containing a [2Fe-2S] Cluster with Cysteinyl and Histidyl Ligation
Haoran Li et al.
BIOCHEMISTRY (2009)
The yeast mitochondrial carrier proteins Mrs3p/Mrs4p mediate iron transport across the inner mitochondrial membrane
Elisabeth M. Froschauer et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2009)
Clinical manifestation and a new ISCU mutation in ironsulphur cluster deficiency myopathy
Gittan Kollberg et al.
BRAIN (2009)
Discovery of Genes Essential for Heme Biosynthesis through Large-Scale Gene Expression Analysis
Roland Nilsson et al.
CELL METABOLISM (2009)
Mammalian iron transport
Gregory Jon Anderson et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2009)
Iron(III) citrate speciation in aqueous solution
Andre M. N. Silva et al.
DALTON TRANSACTIONS (2009)
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia
Alessandro Campanella et al.
HUMAN MOLECULAR GENETICS (2009)
The Interaction of Mitochondrial Iron with Manganese Superoxide Dismutase
Amornrat Naranuntarat et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Surf1, Associated with Leigh Syndrome in Humans, Is a Heme-binding Protein in Bacterial Oxidase Biogenesis
Freya A. Bundschuh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Regulation of Mitochondrial Iron Import through Differential Turnover of Mitoferrin 1 and Mitoferrin 2
Prasad N. Paradkar et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I
Alex D. Sheftel et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS
Salvatore Adinolfi et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)
Cytochrome c Biogenesis: Mechanisms for Covalent Modifications and Trafficking of Heme and for Heme-Iron Redox Control
Robert G. Kranz et al.
MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS (2009)
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant
Michael Li-Hsuan Huang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria
Wen Chen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
Fanny Mochel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Systemic Iron Homeostasis and the Iron-Responsive Element/Iron-Regulatory Protein (IRE/IRP) Regulatory Network
Martina U. Muckenthaler et al.
Annual Review of Nutrition (2008)
Diseases caused by defects of mitochondrial carriers: A review
Ferdinando Palmieri
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2008)
Cargo-selected transport from the mitochondria to peroxisomes is mediated by vesicular carriers
Margaret Neuspiel et al.
CURRENT BIOLOGY (2008)
Translocation of Iron from Lysosomes into Mitochondria Is a Key Event During Oxidative Stress-Induced Hepatocellular Injury
Akira Uchiyama et al.
HEPATOLOGY (2008)
Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
Angelica Olsson et al.
HUMAN MOLECULAR GENETICS (2008)
Body iron metabolism and pathophysiology of iron overload
Yutaka Kohgo et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2008)
Coa2 is an assembly factor for yeast cytochrome c oxidase biogenesis that facilitates the maturation of Cox1
Fabien Pierrel et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Yeast mitochondria import ATP through the calcium-dependent ATP-Mg/Pi carrier Sal1p, and are ATP consumers during aerobic growth in glucose
Javier Traba et al.
MOLECULAR MICROBIOLOGY (2008)
Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins
Abbhirami Rajagopal et al.
NATURE (2008)
The Role of the Iron Transporter ABCB7 in Refractory Anemia with Ring Sideroblasts
Jacqueline Boultwood et al.
PLOS ONE (2008)
A heme export protein is required for red blood cell differentiation and iron homeostasis
Sioban B. Keel et al.
SCIENCE (2008)
Special delivery from mitochondria to peroxisomes
Uwe Schumann et al.
TRENDS IN CELL BIOLOGY (2008)
Iron-sulfur cluster biogenesis and human disease
Tracey A. Rouault et al.
TRENDS IN GENETICS (2008)
Mitochondrial Iba57p is required for Fe/S cluster formation on aconitase and activation of radical SAM enzymes
Cristy Gelling et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Mitochondrial ferritin expression in adult mouse tissues
Paolo Santambrogio et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2007)
Frataxin gene point mutations in Italian Friedreich ataxia patients
Cinzia Gellera et al.
NEUROGENETICS (2007)
Non-transferrin-bound iron reaches mitochondria by a chelator-inaccessible mechanism: biological and clinical implications
Maya Shvartsman et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2007)
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease
Carmen Herrero et al.
ARCHIVES OF DERMATOLOGY (2007)
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload
Clara Camaschella et al.
BLOOD (2007)
Direct interorganellar transfer of iron from endosome to mitochondrion
Alex D. Sheftel et al.
BLOOD (2007)
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis
Corinne Pondarre et al.
BLOOD (2007)
RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload
Patrizia Cavadini et al.
BLOOD (2007)
Assessment of chelatable mitochondrial iron by using mitochondrion-selective fluorescent iron indicators with different iron-binding affinities
Ursula Rauen et al.
CHEMBIOCHEM (2007)
Human frataxin:: iron and ferrochelatase binding surface
Krisztina Z. Bencze et al.
CHEMICAL COMMUNICATIONS (2007)
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains
Jana Rudolf et al.
MOLECULAR CELL (2006)
Zip14 (Slc39a14) mediates non-transferrin-bound iron uptake into cells
Juan P. Liuzzi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
The conserved substrate binding site of mitochondrial carriers
Edmund R. S. Kunji et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2006)
Mrs3p, Mrs4p, and frataxin provide iron for Fe-S cluster synthesis in mitochondria
Yan Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Evidence for iron channeling in the Fet3p-Ftr1p high-affinity iron uptake complex in the yeast plasma membrane
Ernest Y. Kwok et al.
BIOCHEMISTRY (2006)
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload
C Beaumont et al.
BLOOD (2006)
Assembly, activation, and trafficking of the Fet3p•Ftr1p high affinity iron permease complex in Saccharomyces cerevisiae
A Singh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
The effects of mitochondrial iron homeostasis on cofactor specificity of superoxide dismutase 2
Mei Yang et al.
EMBO JOURNAL (2006)
The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis
C Pondarré et al.
HUMAN MOLECULAR GENETICS (2006)
Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus
LA Sazanov et al.
SCIENCE (2006)
Mitoferrin is essential for erythroid iron assimilation
GC Shaw et al.
NATURE (2006)
The Nfs1 interacting protein Isd11 has an essential role in Fe/S cluster biogenesis in mitochondria
AC Adam et al.
EMBO JOURNAL (2006)
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)
A Iolascon et al.
BLOOD (2006)
New mitochondrial carriers: an overview
A del Arco et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2005)
Direct activation of genes involved in intracellular iron use by the yeast iron-responsive transcription factor Aft2 without its paralog Aft1
M Courel et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
Organization of iron-sulfur clusters in respiratory complex I
P Hinchliffe et al.
SCIENCE (2005)
A disulfide relay system in the intermembrane space of mitochondria that mediates protein import
N Mesecke et al.
CELL (2005)
Frataxin and mitochondrial carrier proteins, Mrs3p and Mrs4p, cooperate in providing iron for heme synthesis
Y Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency -: art. no. e28
M Bugiani et al.
JOURNAL OF MEDICAL GENETICS (2005)
Unique iron binding and oxidation properties of human mitochondrial ferritin: A comparative analysis with human H-chain ferritin
F Bou-Abdallah et al.
JOURNAL OF MOLECULAR BIOLOGY (2005)
Overexpression of mitochondrial ferritin causes cytosolic iron depletion and changes cellular iron homeostasis
GJ Nie et al.
BLOOD (2005)
Functional link between ribosome formation and biogenesis of iron-sulfur proteins
A Yarunin et al.
EMBO JOURNAL (2005)
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload
MP Mims et al.
BLOOD (2005)
Coordinated remodeling of cellular metabolism during iron deficiency through targeted mRNA degradation
S Puig et al.
CELL (2005)
Balancing acts: Molecular control of mammalian iron metabolism
MW Hentze et al.
CELL (2004)
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
MJH Coenen et al.
ANNALS OF NEUROLOGY (2004)
Identification of a human heme exporter that is essential for erythropoiesis
JG Quigley et al.
CELL (2004)
Reversible assembly of the ATP-binding cassette transporter Mdl1 with the F1F0-ATP synthase in mitochondria
D Galluhn et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis
T Yoon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Identification of the mitochondrial GTP/GDP transporter in Saccharomyces cerevisiae
A Vozza et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Mitochondrial ferritin
S Levi et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2004)
Overlapping specificities of the mitochondrial cytochrome c and c1 heme lyases
DG Bernard et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
H Antonicka et al.
HUMAN MOLECULAR GENETICS (2003)
Manganese activation of superoxide dismutase 2 in Saccharomyces cerevisiae requires MTM1, a member of the mitochondrial carrier family
E Luk et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1
J Gerber et al.
EMBO REPORTS (2003)
Aft1p and Aft2p mediate iron-responsive gene expression in yeast through related promoter elements
JC Rutherford et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
The mechanism of ferrichrome transport through Arn1p and its metabolism in Saccharomyces cerevisiae
RE Moore et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia
M Cazzola et al.
BLOOD (2003)
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
H Antonicka et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Deletion of the mitochondrial carrier genes MRS3 and MRS4 suppresses mitochondrial iron accumulation in a yeast frataxin-deficient strain
F Foury et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Human mitochondrial ferritin expressed in HeLa cells incorporates iron and affects cellular iron metabolism
B Corsi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
The human sideroflexin 5 (SFXN5) gene:: sequence, expression analysis and exclusion as a candidate for PARK3
PJ Lockhart et al.
GENE (2002)
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L
A Maguire et al.
BRITISH JOURNAL OF HAEMATOLOGY (2001)
A human mitochondrial ferritin encoded by an intronless gene
S Levi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Characterization of a novel human putative mitochondrial transporter homologous to the yeast mitochondrial RNA splicing proteins 3 and 4
FY Li et al.
FEBS LETTERS (2001)
Role of the ABC transporter Mdl1 in peptide export from mitochondria
L Young et al.
SCIENCE (2001)
A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice
MD Fleming et al.
GENES & DEVELOPMENT (2001)
A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13
A Seyda et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
H Puccio et al.
NATURE GENETICS (2001)
A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
I Valnot et al.
HUMAN MOLECULAR GENETICS (2000)
Early embryonic lethality of H ferritin gene deletion in mice
C Ferreira et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
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