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Article

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.

Human mutation - 1 Oct 2022

Segovia-Falquina Cristina, Vilas Alicia, Leal Fátima, Del Caño-Ochoa Francisco, Kirk Edwin P, Ugarte Magdalena, Ramón-Maiques Santiago, Gámez Alejandra, Pérez Belén

Abstract excerpt

Different strategies are being investigated for treating PMM2-CDG, the most common congenital disorder of glycosylation. The use of pharmacochaperones (PCs) is one of the most promising. The present work characterizes the expression, stability, and enzymatic properties of 15 previously described clinical variants of the PMM2 protein, four novel variants, the Pmm2 mouse variant p.Phe115Leu, and its p.Phe119Leu...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35789514
DOI: 10.1002/humu.24431

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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