Article

A genome-wide CRISPR screen identifies the glycosylation enzyme DPM1 as a modifier of DPAGT1 deficiency and ER stress

2021-12-04

Abstract excerpt

Partial loss-of-function mutations in glycosylation pathways underlie a set of rare diseases called Congenital Disorders of Glycosylation (CDGs). In particular, DPAGT1-CDG is caused by mutations in the gene encoding the first step in N-glycosylation, DPAGT1 , and this disorder currently lacks effective therapies. To identify potential therapeutic targets for DPAGT1-CDG, we performed CRISPR knockout screens in Dr...

Topics

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

Identifiers and source

Literature Corpus work: 59438965-1fff-5b5a-b7af-afee1bd5cf55
DOI: 10.1101/2021.12.03.471178

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A genome-wide CRISPR screen identifies the glycosylation enzyme DPM1 as a modifier of DPAGT1 deficiency and ER stressDOI 10.1101/2021.12.03.471178Read

A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDGSemantic proximity Read

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder.Semantic proximity Read

Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease modelSemantic proximity Read

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Semantic proximity Read

Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICSSemantic proximity Read

A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG.Semantic proximity Read

Congenital disorders of glycosylation: Still "hot" in 2020.Semantic proximity Read

Metabolic manipulation of glycosylation disorders in humans and animal models.Semantic proximity Read

A hypomorphic Mpi mutation unlocks an in vivo tool for studying global N-glycosylation deficiency.Semantic proximity Read

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.Semantic proximity Read

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.Semantic proximity Read

Precision genetic cellular models identify therapies protective against endoplasmic reticulum stressSemantic proximity Read