Congenital erythropoietic porphyria: advances in pathogenesis and treatment
No abstract listed.
Increased erythrocyte uroporphyrinogen-l-synthetase, delta-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias
The purification and properties of uroporphyrinogen I synthases and uroporphyrinogen III cosynthase. Interactions between the enzymes
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity
Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene
Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3
The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions
Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes
Purification and properties of uroporphyrinogen III synthase (co-synthase) from an overproducing recombinant strain of Escherichia coli K-12
Rat liver uroporphyrinogen III synthase has similar properties to the enzyme from Euglena gracilis, including absence of a requirement for a reversibly bound cofactor for activity
Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria
Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions
Repression by hematin of porphyrin biosynthesis in erythrocyte precursors in congenital erythropoietic porphyria
Porphobilinogen deaminase and uroporphyrinogen III synthase: structure, molecular biology, and mechanism
Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7
Correction of the enzyme defect in cultured congenital erythropoietic porphyria disease cells by retrovirus-mediated gene transfer
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene
Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs
Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene
Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease)
Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family
Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells
C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria
Porphyrins in urine, plasma, erythrocytes, bile and faeces in a case of congenital erythropoietic porphyria (Gunther's disease) treated with blood transfusion and iron chelation: lack of benefit from oral charcoal
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene
Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression
Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria
Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene
Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options
Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2.
Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes
Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria
Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria
Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling
Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma
Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.
Hematopoietic chimerism and central tolerance created by peripheral-tolerance induction without myeloablative conditioning
Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis.
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation
Congenital Erythropoietic Porphyria With Calcific Constrictive Pericarditis: A Case Report and Brief Review of Literature
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability
CREs: Gene & Cell Therapy
Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.
Allogenic & Autologous Therapies
Allogenic therapies are generated in large batches from unrelated donor tissues such as bone marrow. In contrast, autologous therapies are manufactures as a single lot from the patient being treated. Here is the latest research on allogenic and autologous therapies.
Blood And Marrow Transplantation
The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.