Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.

The Journal of investigative dermatology - 1 Apr 2026

Smith Christopher J, Al-Salihi Ahmed, Williams Jack L, Chan Li, Metherell Louise A

Abstract excerpt

Variegate porphyria, caused by monoallelic variants in PPOX (protoporphyrinogen oxidase), leads to acute visceral attacks and skin photosensitivity, presenting as blistering and fragility; a more severe phenotype occurs with rare biallelic variants. This results from accumulation of intermediate porphyrins, such as 5'-aminolevulenic acid, near the skin surface, oxidized by sunlight and releasing free radicals. We...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Flavoproteins
Share to Gene Knockdown Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratinocytes

Share to Mitochondrial Proteins

Share to Oxidative Stress

Share to Porphyrins

Share to Protoporphyrinogen Oxidase

Source

Identifiers

PMID: 40935242
DOI: 10.1016/j.jid.2025.08.041

Genes

PPOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.PMID 40935242Read ↗

The porphyrias: advances in diagnosis and treatmentSemantic proximity Read ↗

The porphyrias: advances in diagnosis and treatment.Semantic proximity Read ↗

The porphyrias: advances in diagnosis and treatment.Semantic proximity Read ↗

Novel PPOX mutations in two variegate porphyria pedigreesSemantic proximity Read ↗

Generation and characterization of human U-2 OS cell lines with the CRISPR/Cas9-edited protoporphyrinogen oxidase IX geneSemantic proximity Read ↗

A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.Semantic proximity Read ↗

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.Semantic proximity Read ↗

Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.Semantic proximity Read ↗

Molecular characterization of homozygous variegate porphyria.Semantic proximity Read ↗

The genetic bases of the porphyrias.Semantic proximity Read ↗

Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.Semantic proximity Read ↗

Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.