相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum
Virginia Kimonis et al.
JOURNAL OF MEDICAL GENETICS (2021)
Mechanistic concepts of iron-sulfur protein biogenesis in Biology
Joseph J. Braymer et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2021)
Mitochondrial iron metabolism and its role in diseases
Jiayin Gao et al.
CLINICA CHIMICA ACTA (2021)
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
Tova Hershkovitz et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2021)
The Multifaceted Regulation of Mitochondria in Ferroptosis
Hao Wu et al.
LIFE-BASEL (2021)
Proteomics characterization of mitochondrial-derived vesicles under oxidative stress
Goutham Vasam et al.
FASEB JOURNAL (2021)
On Iron Metabolism and Its Regulation
Anne-Cathrine S. Vogt et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
ABCB10 exports mitochondrial biliverdin, driving metabolic maladaptation in obesity
Michael Shum et al.
SCIENCE TRANSLATIONAL MEDICINE (2021)
The mitochondrial carrier SFXN1 is critical for complex III integrity and cellular metabolism
Michelle Grace Acoba et al.
CELL REPORTS (2021)
Iron metabolism: pathophysiology and pharmacology
Karolin Roemhild et al.
TRENDS IN PHARMACOLOGICAL SCIENCES (2021)
Structural basis for heme-dependent NCoR binding to the transcriptional repressor REV-ERBβ
Sarah A. Mosure et al.
SCIENCE ADVANCES (2021)
Effects of curcumin on mitochondria in neurodegenerative diseases
Hossein Bagheri et al.
BIOFACTORS (2020)
Mechanisms of Mitochondrial Iron-Sulfur Protein Biogenesis
Roland Lill et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 89 (2020)
Cysteine Toxicity Drives Age-Related Mitochondrial Decline by Altering Iron Homeostasis
Casey E. Hughes et al.
CELL (2020)
Molecular Mechanism of ISC Iron-Sulfur Cluster Biogenesis Revealed by High-Resolution Native Mass Spectrometry
Cheng-Wei Lin et al.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY (2020)
Maintaining Iron Homeostasis Is the Key Role of Lysosomal Acidity for Cell Proliferation
Ross A. Weber et al.
MOLECULAR CELL (2020)
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement
Marisa W. Friederich et al.
MOLECULAR GENETICS AND METABOLISM (2020)
From Synthesis to Utilization: The Ins and Outs of Mitochondrial Heme
Samantha A. Swenson et al.
CELLS (2020)
From the discovery to molecular understanding of cellular iron-sulfur protein biogenesis
Roland Lill
BIOLOGICAL CHEMISTRY (2020)
Mitochondrial-nuclear heme trafficking in budding yeast is regulated by GTPases that control mitochondrial dynamics and ER contact sites
Osiris Martinez-Guzman et al.
JOURNAL OF CELL SCIENCE (2020)
Iron Metabolism in Obesity and Metabolic Syndrome
Alvaro Gonzalez-Dominguez et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Mitochondrial [4Fe-4S] protein assembly involves reductive [2Fe-2S] cluster fusion on ISCA1-ISCA2 by electron flow from ferredoxin FDX2
Benjamin Dennis Weiler et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Transferrin and transferrin receptors update
Hiroshi Kawabata
FREE RADICAL BIOLOGY AND MEDICINE (2019)
Mechanism of frataxin bypass in human iron-sulfur cluster biosynthesis with implications for Friedreich's ataxia
Deepika Das et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
Heme biosynthesis and the porphyrias
John D. Phillips
MOLECULAR GENETICS AND METABOLISM (2019)
Mechanism of activation of the human cysteine desulfurase complex by frataxin
Shachin Patra et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
PGRMC2 is an intracellular haem chaperone critical for adipocyte function
Andrea Galmozzi et al.
NATURE (2019)
Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin
Sylvain Gervason et al.
NATURE COMMUNICATIONS (2019)
Mitochondrial Iron in Human Health and Disease
Diane M. Ward et al.
ANNUAL REVIEW OF PHYSIOLOGY, VOL 81 (2019)
Iron metabolism under conditions of ineffective erythropoiesis in β-thalassemia
Stefano Rivella
BLOOD (2019)
Making and breaking heme
Arianna I. Celis et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2019)
The mitochondrial heme metabolon: Insights into the complex(ity) of heme synthesis and distribution
Robert B. Piel et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Sideroflexin 4 affects Fe-S cluster biogenesis, iron metabolism, mitochondrial respiration and heme biosynthetic enzymes
Bibbin T. Paul et al.
SCIENTIFIC REPORTS (2019)
Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo
King Faisal Yambire et al.
ELIFE (2019)
A novel complex neurological phenotype due to a homozygous mutation in FDX2
Juliana Gurgel-Giannetti et al.
BRAIN (2018)
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases
Majid Alfadhel et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2018)
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins
Alessandra Torraco et al.
HUMAN MOLECULAR GENETICS (2018)
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion
Joseph T. Alaimo et al.
HUMAN MUTATION (2018)
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations
Irene Toldo et al.
METABOLIC BRAIN DISEASE (2018)
Mitochondrial cytochrome c oxidase biogenesis: Recent developments
Alba Timon-Gomez et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2018)
A role for divalent metal transporter (DMT1) in mitochondrial uptake of iron and manganese
Natascha A. Wolff et al.
SCIENTIFIC REPORTS (2018)
Ferritinophagy/ferroptosis: Iron-related newcomers in human diseases
Mingzhu Tang et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2018)
SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism
Nora Kory et al.
SCIENCE (2018)
Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy
M. Liu et al.
CLINICAL GENETICS (2018)
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
Alessandra Torraco et al.
JOURNAL OF NEUROLOGY (2017)
Mitochondria and Iron: current questions
Bibbin T. Paul et al.
EXPERT REVIEW OF HEMATOLOGY (2017)
Cell Biology of the Mitochondrion
Alexander M. van der Bliek et al.
GENETICS (2017)
Specialized function of yeast Isa1 and Isa2 proteins in the maturation of mitochondrial [4Fe-4S] proteins (vol 286, pg 41205, 2011)
Ulrich Muhlenhoff et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
Cytosolic iron chaperones: Proteins delivering iron cofactors in the cytosol of mammalian cells
Caroline C. Philpott et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
Ascorbate peroxidase proximity labeling coupled with biochemical fractionation identifies promoters of endoplasmic reticulum-mitochondrial contacts
Il-Taeg Cho et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
Iron-sulfur cluster biogenesis and trafficking in mitochondria
Joseph J. Braymer et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome
Anju Shukla et al.
JOURNAL OF HUMAN GENETICS (2017)
Cell Biology of the Mitochondrion
Alexander M. van der Bliek et al.
GENETICS (2017)
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
Antoine Paul et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
&ITIBA57&IT mutations abrogate iron-sulfur cluster assembly to cavitating leukoencephalopathy
Akihiko Ishiyama et al.
NEUROLOGY-GENETICS (2017)
A specialized pathway for erythroid iron delivery through lysosomal trafficking of transferrin receptor 2
Shadi Khalil et al.
BLOOD ADVANCES (2017)
A Red Carpet for Iron Metabolism
Martina U. Muckenthaler et al.
CELL (2017)
Heme Mobilization in Animals: A Metallolipid's Journey
Amit R. Reddi et al.
ACCOUNTS OF CHEMICAL RESEARCH (2016)
Labile Low-Molecular-Mass Metal Complexes in Mitochondria: Trials and Tribulations of a Burgeoning Field
Paul A. Lindahl et al.
BIOCHEMISTRY (2016)
Erythroid cell mitochondria receive endosomal iron by a kiss-and-run mechanism
Arnel Hamdi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2016)
NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand codon recognition in mitochondrial translation
Sara Haag et al.
EMBO JOURNAL (2016)
Reduction in mitochondrial iron alleviates cardiac damage during injury
Hsiang-Chun Chang et al.
EMBO MOLECULAR MEDICINE (2016)
Endosome-mitochondria interactions are modulated by iron release from transferrin
Anupam Das et al.
JOURNAL OF CELL BIOLOGY (2016)
Regulators of Iron Homeostasis: New Players in Metabolism, Cell Death, and Disease
Alexander R. Bogdan et al.
TRENDS IN BIOCHEMICAL SCIENCES (2016)
Diagnosis and management of congenital dyserythropoietic anemias
Antonella Gambale et al.
EXPERT REVIEW OF HEMATOLOGY (2016)
Overlap of copper and iron uptake systems in mitochondria in Saccharomyces cerevisiae
Katherine E. Vest et al.
OPEN BIOLOGY (2016)
Mitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins
Marta A. Uzarska et al.
ELIFE (2016)
Selective sorting and destruction of mitochondrial membrane proteins in aged yeast
Adam L. Hughes et al.
ELIFE (2016)
Role of Nfu1 and Bol3 in iron-sulfur cluster transfer to mitochondrial clients
Andrew Melber et al.
ELIFE (2016)
The mitochondrial acyl carrier protein (ACP) coordinates mitochondrial fatty acid synthesis with iron sulfur cluster biogenesis
Jonathan G. Van Vranken et al.
ELIFE (2016)
Parkinson's Disease: The Mitochondria-Iron Link
Yorka Munoz et al.
PARKINSONS DISEASE (2016)
The Human Iron-Sulfur Assembly Complex Catalyzes the Synthesis of [2Fe-2S] Clusters on ISCU2 That Can Be Transferred to Acceptor Molecules
Nicholas G. Fox et al.
BIOCHEMISTRY (2015)
Frataxin Accelerates [2Fe-2S] Cluster Formation on the Human Fe-S Assembly Complex
Nicholas G. Fox et al.
BIOCHEMISTRY (2015)
Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease
D. J. R. Lane et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2015)
Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability
Viktoria Desiree Paul et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2015)
Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery
Nunziata Maio et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2015)
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
Klaus Schmitz-Abe et al.
BLOOD (2015)
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin et al.
CELL (2015)
Iron Regulatory Protein 1 Sustains Mitochondrial Iron Loading and Function in Frataxin Deficiency
Alain Martelli et al.
CELL METABOLISM (2015)
Compartmentalization of iron between mitochondria and the cytosol and its regulation
Ulrich Muehlenhoff et al.
EUROPEAN JOURNAL OF CELL BIOLOGY (2015)
Cancer cells with irons in the fire
Laura M. Bystrom et al.
FREE RADICAL BIOLOGY AND MEDICINE (2015)
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
Francois-Guillaume Debray et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia
Alexander Lossos et al.
NEUROLOGY (2015)
Identification of the Mitochondrial Heme Metabolism Complex
Amy E. Medlock et al.
PLOS ONE (2015)
Mitochondrial cytochrome c biogenesis: no longer an enigma
Shalon E. Babbitt et al.
TRENDS IN BIOCHEMICAL SCIENCES (2015)
Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols
Auberie Parent et al.
NATURE COMMUNICATIONS (2015)
Increased Heme Levels in the Heart Lead to Exacerbated Ischemic Injury
Konrad Teodor Sawicki et al.
Journal of the American Heart Association (2015)
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
Zuhair N. Al-Hassnan et al.
JOURNAL OF MEDICAL GENETICS (2015)
Chaperone protein involved in transmembrane transport of iron
Izumi Yanatori et al.
BIOCHEMICAL JOURNAL (2014)
Human Frataxin Activates Fe-S Cluster Biosynthesis by Facilitating Sulfur Transfer Chemistry
Jennifer Bridwell-Rabb et al.
BIOCHEMISTRY (2014)
Mammalian Fe-S cluster biogenesis and its implication in disease
Lena K. Beilschmidt et al.
BIOCHIMIE (2014)
Impact of iron overload and potential benefit from iron chelation in low-risk myelodysplastic syndrome
Niraj Shenoy et al.
BLOOD (2014)
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient
Gang Liu et al.
BLOOD (2014)
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
Peter R. Baker et al.
BRAIN (2014)
Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia
A. Anzovino et al.
BRITISH JOURNAL OF PHARMACOLOGY (2014)
Control of Metazoan Heme Homeostasis by a Conserved Multidrug Resistance Protein
Tamara Korolnek et al.
CELL METABOLISM (2014)
Cochaperone Binding to LYR Motifs Confers Specificity of Iron Sulfur Cluster Delivery
Nunziata Maio et al.
CELL METABOLISM (2014)
Heme Enzyme Structure and Function
Thomas L. Poulos
CHEMICAL REVIEWS (2014)
A new pathway for mitochondrial quality control: mitochondrial-derived vesicles
Ayumu Sugiura et al.
EMBO JOURNAL (2014)
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
Ronen Spiegel et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Evidence for mitochondrial localization of divalent metal transporter 1 (DMT1)
Natascha A. Wolff et al.
FASEB JOURNAL (2014)
Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle
Daniel R. Crooks et al.
HUMAN MOLECULAR GENETICS (2014)
Iron Regulatory Protein-1 Protects against Mitoferrin-1-deficient Porphyria
Jacky Chung et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Mechanisms of Mitochondrial Holocytochrome c Synthase and the Key Roles Played by Cysteines and Histidine of the Heme Attachment Site, Cys-XX-Cys-His
Shalon E. Babbitt et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
The Human SLC25A33 and SLC25A36 Genes of Solute Carrier Family 25 Encode Two Mitochondrial Pyrimidine Nucleotide Transporters
Maria Antonietta Di Noia et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Expression of the Yeast Cation Diffusion Facilitators Mmt1 and Mmt2 Affects Mitochondrial and Cellular Iron Homeostasis EVIDENCE FOR MITOCHONDRIAL IRON EXPORT
Liangtao Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Cardiotoxicity of doxorubicin is mediated through mitochondrial iron accumulation
Yoshihiko Ichikawa et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
The LYR protein subunit NB4M/NDUFA6 of mitochondrial complex I anchors an acyl carrier protein and is essential for catalytic activity
Heike Angerer et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Iron chaperones PCBP1 and PCBP2 mediate the metallation of the dinuclear iron enzyme deoxyhypusine hydroxylase
Avery G. Frey et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Crystal Structures of Nucleotide-Free and Glutathione-Bound Mitochondrial ABC Transporter Atm1
Vasundara Srinivasan et al.
SCIENCE (2014)
Functional reconstitution of mitochondrial Fe/S cluster synthesis on Isu1 reveals the involvement of ferredoxin
Holger Webert et al.
NATURE COMMUNICATIONS (2014)
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation
Alain Martelli et al.
FRONTIERS IN PHARMACOLOGY (2014)
Special delivery: distributing iron in the cytosol of mammalian cells
Caroline C. Philpott et al.
FRONTIERS IN PHARMACOLOGY (2014)
Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency
Sali M. K. Farhan et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2014)
Mitochondrial reactive oxygen species and cancer
Lucas B. Sullivan et al.
CANCER & METABOLISM (2014)
Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
Gordon J. Hildick-Smith et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mammalian Iron Homeostasis in Health and Disease: Uptake, Storage, Transport, and Molecular Mechanisms of Action
Alfons Lawen et al.
ANTIOXIDANTS & REDOX SIGNALING (2013)
Mitochondria and Metabolic Homeostasis
Zhiyong Cheng et al.
ANTIOXIDANTS & REDOX SIGNALING (2013)
Physiological and pathological roles of mitochondrial SLC25 carriers
Manuel Gutierrez-Aguilar et al.
BIOCHEMICAL JOURNAL (2013)
LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells
Ester Sanchez et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2013)
HRG1 Is Essential for Heme Transport from the Phagolysosome of Macrophages during Erythrophagocytosis
Carine White et al.
CELL METABOLISM (2013)
Iron speciation in the cytosol: an overview
Robert C. Hider et al.
DALTON TRANSACTIONS (2013)
Human ALKBH7 is required for alkylation and oxidation-induced programmed necrosis
Dragony Fu et al.
GENES & DEVELOPMENT (2013)
Mutations in LYRM4, encoding ironsulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
Sze Chern Lim et al.
HUMAN MOLECULAR GENETICS (2013)
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
Nikhita Ajit Bolar et al.
HUMAN MOLECULAR GENETICS (2013)
Mitoferrin-2-dependent Mitochondrial Iron Uptake Sensitizes Human Head and Neck Squamous Carcinoma Cells to Photodynamic Therapy
Hsin-I Hung et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
Tobias B. Haack et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Frataxin: a protein in search for a function
Annalisa Pastore et al.
JOURNAL OF NEUROCHEMISTRY (2013)
Mammalian Frataxin Controls Sulfur Production and Iron Entry during de Novo Fe4S4 Cluster Assembly
Florent Colin et al.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY (2013)
The Heme a Synthase Cox15 Associates with Cytochrome c Oxidase Assembly Intermediates during Cox1 Maturation
Bettina Bareth et al.
MOLECULAR AND CELLULAR BIOLOGY (2013)
Heme and FLVCR-related transporter families SLC48 and SLC49
Anwar A. Khan et al.
MOLECULAR ASPECTS OF MEDICINE (2013)
The mitochondrial Hsp70 chaperone Ssq1 facilitates Fe/S cluster transfer from Isu1 to Grx5 by complex formation
Marta A. Uzarska et al.
MOLECULAR BIOLOGY OF THE CELL (2013)
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
Sietske H. Kevelam et al.
NEUROLOGY (2013)
Enhanced Heme Function and Mitochondrial Respiration Promote the Progression of Lung Cancer Cells
Jagmohan Hooda et al.
PLOS ONE (2013)
Persulfide formation on mitochondrial cysteine desulfurase: enzyme activation by a eukaryote-specific interacting protein and Fe-S cluster synthesis
Alok Pandey et al.
BIOCHEMICAL JOURNAL (2012)
Role of Surf1 in heme recruitment for bacterial COX biogenesis
Achim Hannappel et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2012)
Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis
Yanbo Shi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2012)
One ring to rule them all: Trafficking of heme and heme synthesis intermediates in the metazoans
Iqbal Hamza et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2012)
Cellular and mitochondrial iron homeostasis in vertebrates
Caiyong Chen et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2012)
Structure, function, and assembly of heme centers in mitochondrial respiratory complexes
Hyung J. Kim et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2012)
Intracellular iron trafficking: role of cytosolic ligands
Maya Shvartsman et al.
BIOMETALS (2012)
Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease
Tracey A. Rouault
DISEASE MODELS & MECHANISMS (2012)
HSC20 interacts with frataxin and is involved in ironsulfur cluster biogenesis and iron homeostasis
Yuxi Shan et al.
HUMAN MOLECULAR GENETICS (2012)
Oligomerization of Heme o Synthase in Cytochrome Oxidase Biogenesis Is Mediated by Cytochrome Oxidase Assembly Factor Coa2
Oleh Khalimonchuk et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
The mitochondrial heme exporter FLVCR1b mediates erythroid differentiation
Deborah Chiabrando et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation
Alex D. Sheftel et al.
MOLECULAR BIOLOGY OF THE CELL (2012)
Eukaryotic DNA polymerases require an iron-sulfur cluster for the formation of active complexes
Daili J. A. Netz et al.
NATURE CHEMICAL BIOLOGY (2012)
Reduction of Mitoferrin Results in Abnormal Development and Extended Lifespan in Caenorhabditis elegans
Yaguang Ren et al.
PLOS ONE (2012)
VDAC1: from structure to cancer therapy
Varda Shoshan-Barmatzt et al.
FRONTIERS IN ONCOLOGY (2012)
Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes
Jessie M. Cameron et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins
Aleix Navarro-Sastre et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Infantile Cardioencephalopathy due to a COX15 Gene Defect: Report and Review
Majid Alfadhel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Proteomic analysis of lipid raft-enriched membranes isolated from internal organelles
Chloe N. Poston et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2011)
Rim2, a pyrimidine nucleotide exchanger, is needed for iron utilization in mitochondria
Heeyong Yoon et al.
BIOCHEMICAL JOURNAL (2011)
Mitochondrial quality control by the ubiquitin-proteasome system
Eric B. Taylor et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2011)
Mechanism of glutaredoxin-ISU [2Fe-2S] cluster exchange
Wenbin Qi et al.
CHEMICAL COMMUNICATIONS (2011)
Key Players and Their Role During Mitochondrial Iron-Sulfur Cluster Biosynthesis
Swati Rawat et al.
CHEMISTRY-A EUROPEAN JOURNAL (2011)
Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria
Yongming Wang et al.
EXPERIMENTAL HEMATOLOGY (2011)
Genetic and Biochemical Analysis of High Iron Toxicity in Yeast IRON TOXICITY IS DUE TO THE ACCUMULATION OF CYTOSOLIC IRON AND OCCURS UNDER BOTH AEROBIC AND ANAEROBIC CONDITIONS
Huilan Lin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype
Marguerite V. Evans-Galea et al.
NEUROGENETICS (2011)
Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex
Stephane Schmucker et al.
PLOS ONE (2011)
The rice mitochondrial iron transporter is essential for plant growth
Khurram Bashir et al.
NATURE COMMUNICATIONS (2011)
Monothiol glutaredoxin Grx5 interacts with Fe-S scaffold proteins Isa1 and Isa2 and supports Fe-S assembly and DNA integrity in mitochondria of fission yeast
Kyoung-Dong Kim et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
Transferrin-iron routing to the cytosol and mitochondria as studied by live and real-time fluorescence
Maya Shvartsman et al.
BIOCHEMICAL JOURNAL (2010)
Human Iron-Sulfur Cluster Assembly, Cellular Iron Homeostasis, and Disease
Hong Ye et al.
BIOCHEMISTRY (2010)
Human Frataxin Is an Allosteric Switch That Activates the Fe-S Cluster Biosynthetic Complex
Chi-Lin Tsai et al.
BIOCHEMISTRY (2010)
Cytosolic and mitochondrial ferritins in the regulation of cellular iron homeostasis and oxidative damage
Paolo Arosio et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2010)
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy
Petter S. Sanaker et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2010)
Ferrochelatase forms an oligomeric complex with mitoferrin-1 and Abcb10 for erythroid heme biosynthesis
Wen Chen et al.
BLOOD (2010)
A Mammalian Siderophore Synthesized by an Enzyme with a Bacterial Homolog Involved in Enterobactin Production
Laxminarayana R. Devireddy et al.
CELL (2010)
Cytosolic Monothiol Glutaredoxins Function in Intracellular Iron Sensing and Trafficking via Their Bound Iron-Sulfur Cluster
Ulrich Muehlenhoff et al.
CELL METABOLISM (2010)
Human copper homeostasis: a network of interconnected pathways
Svetlana Lutsenko
CURRENT OPINION IN CHEMICAL BIOLOGY (2010)
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)