# Porphyrin Metabolism and Disorders

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/porphyrin-metabolism-and-disorders/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers explores the molecular mechanisms of heme biosynthesis, including the catalysis by cobalamin-dependent enzymes, genetic mutations leading to porphyrias, microbial production of vitamin B12, and the use of RNA interference therapy and liver transplantation for the treatment of related disorders. It also delves into metabolic engineering and genomic analysis related to heme biosynthesis pathways. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t12441 |
| Works | 35 |

## Topic papers all

Showing 15 of 35.

- [Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2](https://scholariq.org/papers/mutations-in-vkorc1-cause-warfarin-resistance-and-multiple-coagulation-factor/)
- [Coenzyme A: Back in action](https://scholariq.org/papers/coenzyme-a-back-in-action/)
- [How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 å resolution](https://scholariq.org/papers/how-coenzyme-b12-radicals-are-generated-the-crystal-structure-of-methylmalonyl/)
- [A Common Variant in Methionine Synthase Reductase Combined with Low Cobalamin (Vitamin B12) Increases Risk for Spina Bifida](https://scholariq.org/papers/a-common-variant-in-methionine-synthase-reductase-combined-with-low-cobalamin/)
- [The primary hyperoxalurias](https://scholariq.org/papers/the-primary-hyperoxalurias/)
- [Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia](https://scholariq.org/papers/mutations-in-mitochondrial-carrier-family-gene-slc25a38-cause-nonsyndromic/)
- [The intervening sequence of a mouse beta-globin gene is transcribed within the 15S beta-globin mRNA precursor.](https://scholariq.org/papers/the-intervening-sequence-of-a-mouse-beta-globin-gene-is-transcribed-within-the/)
- [Megalin-mediated endocytosis of transcobalamin-vitamin-B12 complexes suggests a role of the receptor in vitamin-B12 homeostasis.](https://scholariq.org/papers/megalin-mediated-endocytosis-of-transcobalamin-vitamin-b12-complexes-suggests-a/)
- [Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1](https://scholariq.org/papers/oxalobacter-formigenes-a-potential-tool-for-the-treatment-of-primary/)
- [Engineering Escherichia coli for efficient production of 5-aminolevulinic acid from glucose](https://scholariq.org/papers/engineering-escherichia-coli-for-efficient-production-of-5-aminolevulinic-acid/)
- [Two Novel Missense Mutations of the HFE Gene (I105T and G93R) and Identification of the S65C Mutation in Alabama Hemochromatosis Probands](https://scholariq.org/papers/two-novel-missense-mutations-of-the-hfe-gene-i105t-and-g93r-and-identification/)
- [Elucidation of the biosynthesis of the methane catalyst coenzyme F430](https://scholariq.org/papers/elucidation-of-the-biosynthesis-of-the-methane-catalyst-coenzyme-f430/)
- [The calcium oxalate crystal growth inhibitor protein produced by mouse kidney cortical cells in culture is osteopontin](https://scholariq.org/papers/the-calcium-oxalate-crystal-growth-inhibitor-protein-produced-by-mouse-kidney/)
- [Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria](https://scholariq.org/papers/exome-sequencing-reveals-cubilin-mutation-as-a-single-gene-cause-of-proteinuria/)
- [Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.](https://scholariq.org/papers/genetic-heterogeneity-in-cystinuria-the-slc3a1-gene-is-linked-to-type-i-but-not/)

## Topic primary papers

- [How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 å resolution](https://scholariq.org/papers/how-coenzyme-b12-radicals-are-generated-the-crystal-structure-of-methylmalonyl/)
- [Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia](https://scholariq.org/papers/mutations-in-mitochondrial-carrier-family-gene-slc25a38-cause-nonsyndromic/)
- [The intervening sequence of a mouse beta-globin gene is transcribed within the 15S beta-globin mRNA precursor.](https://scholariq.org/papers/the-intervening-sequence-of-a-mouse-beta-globin-gene-is-transcribed-within-the/)
- [Elucidation of the biosynthesis of the methane catalyst coenzyme F430](https://scholariq.org/papers/elucidation-of-the-biosynthesis-of-the-methane-catalyst-coenzyme-f430/)
- [Type-zero copper proteins](https://scholariq.org/papers/type-zero-copper-proteins/)
- [Quantifying the impact of symptomatic acute hepatic porphyria on well‐being via patient‐reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (<scp>POWER</scp>) study](https://scholariq.org/papers/quantifying-the-impact-of-symptomatic-acute-hepatic-porphyria-on-well-being-via/)
- [Erythropoietic Protoporphyria: Phase 2 Clinical Trial Results Evaluating the Safety and Effectiveness of Dersimelagon (MT-7117), an Oral MC1R Agonist](https://scholariq.org/papers/erythropoietic-protoporphyria-phase-2-clinical-trial-results-evaluating-the/)
- [A PHASE 1/2 OPEN LABEL EXTENSION STUDY OF GIVOSIRAN, AN INVESTIGATIONAL RNAI THERAPEUTIC, IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA](https://scholariq.org/papers/a-phase-1-2-open-label-extension-study-of-givosiran-an-investigational-rnai/)
- [Porphyria cutanea tarda. Diagnosis by liver biopsy.](https://scholariq.org/papers/porphyria-cutanea-tarda-diagnosis-by-liver-biopsy/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.