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Blood, ISSN 0006-4971, 08/2011, Volume 118, Issue 6, pp. 1443 - 1451
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2013, Volume 110, Issue 45, pp. 18238 - 18243
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in... 
Proteins | Photosensitivity | Thermodynamics | K562 cells | Medical treatment | Erythropoietic porphyria | Pharmacology | Erythroid cells | Genetic mutation | Porphyrins | Heme biosynthetic pathway | Protein misfolding | Günther's disease | Pharmacological therapy | Enzyme instability | Gunther's disease | PROTEIN | PHARMACOLOGICAL CHAPERONES | MULTIDISCIPLINARY SCIENCES | enzyme instability | MODEL | CFTR POTENTIATOR | heme biosynthetic pathway | pharmacological therapy | IN-VITRO | DISEASES | GENE | protein misfolding | UPDATE | MUTATIONS | Humans | DNA Primers - genetics | Pyrazines - therapeutic use | Uroporphyrinogen III Synthetase - chemistry | Boronic Acids - therapeutic use | Mutation, Missense - genetics | Porphyria, Erythropoietic - genetics | Porphyria, Erythropoietic - drug therapy | Circular Dichroism | Real-Time Polymerase Chain Reaction | Bortezomib | Erythroid Cells - metabolism | Uroporphyrinogen III Synthetase - genetics | Models, Molecular | Spectrometry, Fluorescence | Uroporphyrinogen III Synthetase - metabolism | Blotting, Western | Porphyrins - blood | Proteasome Inhibitors - therapeutic use | Protein Folding | Animals | Porphyrins - urine | Mice | Pyrazines - pharmacology | Boronic Acids - pharmacology | Physiological aspects | Care and treatment | Ubiquitin-proteasome system | Health aspects | Biological Sciences
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2009, Volume 106, Issue 38, pp. 16381 - 16386
We used the muscle creatine kinase (MCK) conditional frataxin knockout mouse to elucidate how frataxin deficiency alters iron metabolism. This is of... 
Up regulation | Molecules | Mitochondria | Energy metabolism | Messenger RNA | Reverse transcriptase polymerase chain reaction | Lead | Iron | Friedreich ataxia | Down regulation | Frataxin | Iron transferrin | Heme synthesis | heme synthesis | FRATAXIN EXPRESSION | HEME-SYNTHESIS | MULTIDISCIPLINARY SCIENCES | transferrin | HOMOLOG | INTERLEUKIN-6 | MATURATION | DEFICIENCY | frataxin | CLUSTER SYNTHESIS | METABOLISM | iron | MICE | PROTEINS | Heme - metabolism | Oligonucleotide Array Sequence Analysis | Friedreich Ataxia - pathology | Humans | Gene Expression Profiling | Antimicrobial Cationic Peptides - metabolism | Iron-Binding Proteins - metabolism | Friedreich Ataxia - genetics | Kidney - metabolism | Carbon-Sulfur Lyases - genetics | Hepcidins | Myocardium - metabolism | Antimicrobial Cationic Peptides - genetics | Disease Models, Animal | Friedreich Ataxia - metabolism | Liver - metabolism | Uroporphyrinogen III Synthetase - genetics | Uroporphyrinogen III Synthetase - metabolism | Mitochondria - metabolism | Coproporphyrinogen Oxidase - genetics | Reverse Transcriptase Polymerase Chain Reaction | Carbon-Sulfur Lyases - metabolism | Iron - metabolism | Blotting, Western | Mice, Knockout | Myocardium - cytology | Animals | Spleen - metabolism | Ferrochelatase - metabolism | Ferrochelatase - genetics | Iron-Binding Proteins - genetics | Mice | Coproporphyrinogen Oxidase - metabolism | Biological Sciences
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 03/2019, Volume 10, Issue 1, pp. 1136 - 14
CRISPR-Cas9 is a promising technology for genome editing. Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and... 
TARGET | CONGENITAL ERYTHROPOIETIC PORPHYRIA | CRISPR/CAS9 | SPECIFICITY | DNA | MULTIDISCIPLINARY SCIENCES | HOMOLOGY-DIRECTED REPAIR | GENE-THERAPY | GENERATION | REARRANGEMENTS | EFFICIENCY | RNA, Guide - genetics | RNA, Guide - metabolism | Humans | Porphyria, Erythropoietic - therapy | DNA Breaks, Double-Stranded | Tumor Suppressor Protein p53 - genetics | CRISPR-Associated Protein 9 - genetics | CRISPR-Associated Protein 9 - metabolism | Porphyria, Erythropoietic - genetics | Clustered Regularly Interspaced Short Palindromic Repeats | HEK293 Cells | Porphyria, Erythropoietic - metabolism | Fibroblasts - metabolism | Chromosome Deletion | Recombinational DNA Repair | Deoxyribonuclease I - genetics | Tumor Suppressor Protein p53 - metabolism | Uroporphyrinogen III Synthetase - genetics | Uroporphyrinogen III Synthetase - metabolism | Porphyria, Erythropoietic - pathology | DNA - metabolism | DNA - genetics | Deoxyribonuclease I - metabolism | Models, Biological | CRISPR-Cas Systems | K562 Cells | Fibroblasts - cytology | Gene Editing - methods | High-Throughput Nucleotide Sequencing | Primary Cell Culture | Genome, Human | Chromosomes, Human, Pair 10 | Genetic Therapy - methods | Porphyria | CRISPR | p53 Protein | DNA damage | Editing | Homology | Genomes | Double-strand break repair | Disease control | Proteins | Side effects | Cell lines | Non-homologous end joining | Modelling | Nuclease | Gene therapy | Deoxyribonucleic acid--DNA | Life Sciences | Human health and pathology | Genetics | Hematology | Biochemistry, Molecular Biology | Cancer
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 10/2012, Volume 167, Issue 4, pp. 901 - 913
Journal Article
Archivos Argentinos de Pediatria, ISSN 0325-0075, 04/2018, Volume 116, Issue 2, pp. e300 - e302
Journal Article
Molecular Medicine, ISSN 1076-1551, 09/2010, Volume 16, Issue 9-10, pp. 381 - 388
The first feline model of human congenital erythropoietic porphyria (CEP) due to deficient uroporphyrinogen Ill synthase (URO-synthase) activity was identified... 
PIGS | MEDICINE, RESEARCH & EXPERIMENTAL | CELLS | BONE-MARROW-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | CATTLE | DISEASE | UROPORPHYRINOGEN-III-SYNTHASE | MEDIATED GENE-TRANSFER | IDENTIFICATION | ERYTHROID-SPECIFIC EXPRESSION | CELL BIOLOGY
Journal Article
Journal Article
The FEBS Journal, ISSN 1742-464X, 11/2009, Volume 276, Issue 21, pp. 6399 - 6411
The synthesis of the modified tetrapyrrole known as d1 haem requires several dedicated proteins which are coded for by a set of genes that are often found... 
d1 haem | precorrin‐2 | nitrite reductase | sirohydrochlorin | uroporphyrinogen III | haem | Sirohydrochlorin | Nitrite reductase | Precorrin-2 | Uroporphyrinogen III | Proteins | Enzymes | Biochemistry | Biosynthesis | Molecular biology
Journal Article