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Article

A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.

International journal of molecular sciences - 9 Oct 2022

Hyde Lillian F, Kong Yang, Zhao Lihong, Rao Sriganesh Ramachandra, Wang Jieping, Stone Lisa, Njaa Andrew, Collin Gayle B, Krebs Mark P, Chang Bo, Fliesler Steven J, Nishina Patsy M, Naggert Jürgen K

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis of lipid-linked oligosaccharides and their transfer to proteins. CDGs usually affect multiple organ systems and vary in presentation, even within families. There is currently no cure, and treatment is aimed at ameliorating symptoms and improving quality of...

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Identifiers

PMID: 36233305
DOI: 10.3390/ijms231912005
PMCID: PMC9570038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.PMID 36233305Read ↗

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A genome-wide CRISPR screen identifies the glycosylation enzyme DPM1 as a modifier of DPAGT1 deficiency and ER stressSemantic proximity Read ↗

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The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.Semantic proximity Read ↗

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Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.Semantic proximity Read ↗

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