Disease on EC 4.2.1.75 - uroporphyrinogen-III synthase
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DISEASE 
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Anemia
Levels of delta-aminolevulinate dehydratase, uroporphyrinogen-I synthase, and protoporphyrin IX in erythrocytes from anemic mutant mice.
Anemia, Hemolytic
Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.
Anemia, Hemolytic
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Anemia, Hemolytic
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
Coproporphyria, Hereditary
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
coproporphyrinogen oxidase deficiency
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
Erectile Dysfunction
Benign prostatic hyperplasia evaluation, treatment and association with sexual dysfunction: practice patterns according to physician specialty.
Genetic Diseases, Inborn
Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models.
Genetic Diseases, Inborn
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Genetic Diseases, Inborn
Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
Genetic Diseases, Inborn
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.
Glioma
Aberrations in the Iron Regulatory Gene Signature Are Associated with Decreased Survival in Diffuse Infiltrating Gliomas.
Glioma
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
Hematologic Neoplasms
Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations. A case report.
Intraabdominal Infections
The uroS and yifB Genes Conserved among Tetrapyrrole Synthesizing-Deficient Bacteroidales Are Involved in Bacteroides fragilis Heme Assimilation and Survival in Experimental Intra-abdominal Infection and Intestinal Colonization.
Leukemia, Erythroblastic, Acute
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.
Myelodysplastic Syndromes
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.
Neoplasms
Heme biosynthesis in human breast cancer--mimetic "in vitro" studies and some heme enzymic activity levels.
Neoplasms
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
Neoplasms
The gut microbiota metabolite urolithin A, but not other relevant urolithins, induces p53-dependent cellular senescence in human colon cancer cells.
Photosensitivity Disorders
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
Porphyria, Acute Intermittent
A simple method for measuring erythrocyte porphobilinogenase, and its use in the diagnosis of acute intermittent porphyria.
Porphyria, Acute Intermittent
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
Porphyria, Erythropoietic
A molecular study of congenital erythropoietic porphyria in cattle.
Porphyria, Erythropoietic
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models.
Porphyria, Erythropoietic
Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations. A case report.
Porphyria, Erythropoietic
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Porphyria, Erythropoietic
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.
Porphyria, Erythropoietic
Bone-marrow transplantation for congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria.
Porphyria, Erythropoietic
C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family.
Porphyria, Erythropoietic
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.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met).
Porphyria, Erythropoietic
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: a case where symptoms have been precipitated by an unrelated anaemia.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
Porphyria, Erythropoietic
Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.
Porphyria, Erythropoietic
Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.
Porphyria, Erythropoietic
Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria.
Porphyria, Erythropoietic
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.
Porphyria, Erythropoietic
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.
Porphyria, Erythropoietic
Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.
Porphyria, Erythropoietic
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
Porphyria, Erythropoietic
Fluorescence-based selection of retrovirally transduced cells in congenital erythropoietic porphyria: direct selection based on the expression of the therapeutic gene.
Porphyria, Erythropoietic
Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.
Porphyria, Erythropoietic
Human uroporphyrinogen III synthase: NMR-based mapping of the active site.
Porphyria, Erythropoietic
Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.
Porphyria, Erythropoietic
Identification of two new mutations in congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Immunological, enzymatic and biochemical studies of uroporphyrinogen III-synthase deficiency in 20 patients with congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Improving the Pharmacological Properties of Ciclopirox for Its Use in Congenital Erythropoietic Porphyria.
Porphyria, Erythropoietic
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease).
Porphyria, Erythropoietic
Intracellular Rescue of the Uroporphyrinogen III Synthase Activity in Enzymes Carrying the Hotspot Mutation C73R.
Porphyria, Erythropoietic
Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.
Porphyria, Erythropoietic
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
Porphyria, Erythropoietic
Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells.
Porphyria, Erythropoietic
Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus-transformed B-cell lines.
Porphyria, Erythropoietic
Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.
Porphyria, Erythropoietic
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Porphyria, Erythropoietic
Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation.
Porphyria, Erythropoietic
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
Porphyria, Erythropoietic
Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.
Porphyria, Erythropoietic
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
Porphyria, Erythropoietic
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
Porphyria, Erythropoietic
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.
Porphyria, Erythropoietic
Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis.
Porphyria, Erythropoietic
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.
Porphyria, Erythropoietic
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase:Molecular basis of congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease).
Porphyria, Erythropoietic
Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
Porphyria, Erythropoietic
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation.
Porphyria, Erythropoietic
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature.
Porphyria, Erythropoietic
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.
Porphyria, Erythropoietic
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions.
Porphyria, Erythropoietic
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
Porphyria, Erythropoietic
Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene.
Porphyria, Erythropoietic
[Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft].
Porphyria, Erythropoietic
[Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure]
Porphyria, Erythropoietic
[Congenital erythropoietic porphyria: case report and management recommendations].
Porphyria, Erythropoietic
[Successful gene therapy of mice with congenital erythropoietic porphyria]
Porphyrias
A simple method for measuring erythrocyte porphobilinogenase, and its use in the diagnosis of acute intermittent porphyria.
Porphyrias
Congenital erythropoietic porphyria: a case where symptoms have been precipitated by an unrelated anaemia.
Porphyrias
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
Porphyrias
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.
Porphyrias
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
Porphyrias
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.
Porphyrias
Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.
Porphyrias
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.
Porphyrias
[Congenital erythropoietic porphyria: case report and management recommendations].
Prostatic Hyperplasia
Physician perceptions of sexual dysfunction related to benign prostatic hyperplasia (BPH) symptoms and sexual side effects related to BPH medications.
Protoporphyria, Erythropoietic
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Protoporphyria, Erythropoietic
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
protoporphyrin ferrochelatase deficiency
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
Urologic Diseases
Benign prostatic hyperplasia evaluation, treatment and association with sexual dysfunction: practice patterns according to physician specialty.
uroporphyrinogen-iii synthase deficiency
A knock-in mouse model of congenital erythropoietic porphyria.
uroporphyrinogen-iii synthase deficiency
Bone-marrow transplantation for congenital erythropoietic porphyria.
uroporphyrinogen-iii synthase deficiency
Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
uroporphyrinogen-iii synthase deficiency
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
uroporphyrinogen-iii synthase deficiency
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
uroporphyrinogen-iii synthase deficiency
[Congenital erythropoietic porphyria: case report and management recommendations].
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