Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ

Antzeko izenburuak

• Mucolipidosis III GNPTG missense mutations cause misfolding of the γ subunit of GlcNAc-1-phosphotransferase
  nork: van Meel, Eline, et al.
  Argitaratua: (2016)
• Tuberous Sclerosis, Polycystic Kidney Disease and Mucolipidosis III Gamma Caused by a Microdeletion Unmasking a Recessive Mutation
  nork: Barea, Jaime J., et al.
  Argitaratua: (2015)
• Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:lysosomal Enzyme GlcNAc-1-phosphotransferase Involved in Catalytic Function and Lysosomal Enzyme Recognition
  nork: Qian, Yi, et al.
  Argitaratua: (2015)
• The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module
  nork: Qian, Yi, et al.
  Argitaratua: (2013)
• Multiple Domains of GlcNAc-1-phosphotransferase Mediate Recognition of Lysosomal Enzymes
  nork: van Meel, Eline, et al.
  Argitaratua: (2016)