Article

Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of Erythropoietic Protoporphyria

2020-02-15

Abstract excerpt

<h4>ABSTRACT</h4> Erythropoietic protoporphyria (EPP) is a rare genetic disease in which patients experience acute phototoxic reactions after sunlight exposure. It is caused by a deficiency in ferrochelatase ( FECH ) in the heme biosynthesis pathway. Most patients exhibit a loss-of-function mutation in trans to an allele bearing a SNP that favours aberrant splicing of transcripts. One viable strategy for EPP is...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: de106a7b-cf25-557b-b019-882e010d7757
DOI: 10.1101/2020.02.14.949297

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of Erythropoietic ProtoporphyriaDOI 10.1101/2020.02.14.949297Read

Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria.Semantic proximity Read

Development of Therapeutic Splice-Switching OligonucleotidesSemantic proximity Read

Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.Semantic proximity Read

Systemic delivery of a splice-switching oligonucleotide heteroduplex corrects splicing in central nervous system and muscle in spinal muscular atrophy miceSemantic proximity Read

Heteroduplex oligonucleotide technology boosts oligonucleotide splice switching activity of morpholino oligomers in a Duchenne muscular dystrophy mouse modelSemantic proximity Read

Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).Semantic proximity Read

Palmitic acid conjugation enhances potency of tricyclo-DNA splice switching oligonucleotidesSemantic proximity Read

A Rapidly Excretable, ROS-Scavenging Ionizable Lipid Decouples mRNA Delivery Potency from ToxicitySemantic proximity Read

In vivo adenine base editing reverts C282Y and improves iron metabolism in hemochromatosis mice.Semantic proximity Read

Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing.Semantic proximity Read

Control of backbone chemistry and chirality boost oligonucleotide splice switching activitySemantic proximity Read

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.Semantic proximity Read