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

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

    Research output: Contribution to journalOriginal Articlepeer-review

    13 Citations (Web of Science)
    Original languageEnglish
    Pages (from-to)318-333
    JournalJOURNAL OF INHERITED METABOLIC DISEASE
    Volume45
    Issue number2
    DOIs
    Publication statusPublished - 2022

    Keywords

    • PYRIMIDINE BIOSYNTHESIS
    • MULTIFUNCTIONAL PROTEIN
    • FUNCTIONAL-CHARACTERIZATION
    • DIHYDROOROTASE DOMAIN
    • PHOSPHATE SYNTHETASE
    • PURIFICATION
    • MUTATIONS
    • ASPARTATE
    • MECHANISM
    • CELLS

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