β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG

Benzer Materyaller

• β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG
  Yazar:: Maria Monticelli, ve diğerleri
  Baskı/Yayın Bilgisi: (2019-08-01)
• A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.
  Yazar:: Valentina Citro, ve diğerleri
  Baskı/Yayın Bilgisi: (2017-01-01)
• A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
  Yazar:: Citro, Valentina, ve diğerleri
  Baskı/Yayın Bilgisi: (2017)
• Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations
  Yazar:: Liguori, Ludovica, ve diğerleri
  Baskı/Yayın Bilgisi: (2020)
• The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
  Yazar:: Citro, Valentina, ve diğerleri
  Baskı/Yayın Bilgisi: (2018)