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ERBIN and phosphoglucomutase 3 deficiency.

Current opinion in immunology - 1 Oct 2023

Milner Joshua D

Abstract excerpt

ERBIN and phosphoglucomutase 3 (PGM3) mutations both lead to rare primary atopic disorders characterized by allergic disease and connective tissue abnormalities, though each disorder has its own rather unique pattern of multisystem presentations. Pathway studies show how ERBIN mutations allow for enhanced TGFb signaling, and prevent STAT3 from negative-regulating TGFb signaling. This likely explains many elements...

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Glycogen Storage Disease
Mutation
Phosphoglucomutase
Signal Transduction
STAT3 Transcription Factor
Transforming Growth Factor beta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37369151
DOI: 10.1016/j.coi.2023.102353
PMCID: PMC11583051

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