Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1.

doi:10.1016/j.freeradbiomed.2016.01.008

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Article

Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1.

Free radical biology & medicine - 1 Mar 2016

Choquet Hélène, Trapani Eliana, Goitre Luca, Trabalzini Lorenza, Akers Amy, Fontanella Marco, Hart Blaine L, Morrison Leslie A, Pawlikowska Ludmila, Kim Helen, Retta Saverio Francesco

Abstract excerpt

BACKGROUND: Familial Cerebral Cavernous Malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions. CCM lesions manifest across a range of different phenotypes, including wide differences in lesion number, size and susceptibility to intracerebral hemorrhage (ICH). Oxidative stress plays an...

Topics

Adult
Aged
Brain
Cytochrome P-450 Enzyme System
Female
Genotype
Hemangioma, Cavernous, Central Nervous System
Heterozygote
Humans
KRIT1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Magnetic Resonance Imaging

Male

Matrix Metalloproteinases

Microtubule-Associated Proteins

Middle Aged

Multigene Family

Mutation

Oxidative Stress

Source

Open in PubMed Open full text

Identifiers

PMID: 26795600
DOI: 10.1016/j.freeradbiomed.2016.01.008
PMCID: PMC4774945

Genes

CHM
MMP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-26795600-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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