Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1792, Issue 9, 2009, Pages 835-840

  Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

Author keywords

CDG; Glycosylation disorder; High throughput screening; Phosphomannomutase2; Phosphomannose isomerase; Therapy

Indexed keywords

IMIGLUCERASE; MANNOSE 1 PHOSPHATE DERIVATIVE; MANNOSE 6 PHOSPHATE; MANNOSE PHOSPHATE ISOMERASE; MANNOSE PHOSPHATE ISOMERASE INHIBITOR; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; PRODRUG; UNCLASSIFIED DRUG;

CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; DISEASE MODEL; DRUG EFFICACY; DRUG MECHANISM; DRUG SYNTHESIS; DRUG TARGETING; ENZYME GLYCOSYLATION; ENZYME REPLACEMENT; HIGH THROUGHPUT SCREENING; HUMAN; MEMBRANE PERMEABILITY; NONHUMAN; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEIN TARGETING; REVIEW;

ANIMALS; CARBOHYDRATE METABOLISM, INBORN ERRORS; CONGENITAL DISORDERS OF GLYCOSYLATION; ENZYME ACTIVATION; GLYCOSYLATION; HUMANS; MANNOSEPHOSPHATES; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

ANIMALIA;

EID: 70249111204     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2009.01.004     Document Type: Review

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