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Article

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.

Journal of inherited metabolic disease - 1 Mar 2022

Briso-Montiano Alvaro, Del Caño-Ochoa Francisco, Vilas Alicia, Velázquez-Campoy Adrián, Rubio Vicente, Pérez Belén, Ramón-Maiques Santiago

Abstract excerpt

Phosphomannomutase 2 (PMM2) deficiency, the most frequent congenital disorder of glycosylation (PMM2-CDG), is a severe condition, which has no cure. Due to the identification of destabilizing mutations, our group aims at increasing residual activity in PMM2-CDG patients, searching for pharmacochaperones. Detailed structural knowledge of hPMM2 might help identify variants amenable to pharmacochaperoning. hPMM2...

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PMID: 34859900
DOI: 10.1002/jimd.12461

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