A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

समान संसाधन

• A <i> <scp>POGLUT</scp> 1 </i> mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
  द्वारा: Emilia Servián‐Morilla, और अन्य
  प्रकाशित: (2016)
• Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi)
  द्वारा: Wu, Jianbo, और अन्य
  प्रकाशित: (2017)
• POGLUT1 biallelic mutations cause a myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
  द्वारा: Servián-Morilla, E., और अन्य
  प्रकाशित: (2020)
• POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1
  द्वारा: Williamson, Daniel B., और अन्य
  प्रकाशित: (2021)
• Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi)
  द्वारा: Shakeel M. Thakurdas, और अन्य
  प्रकाशित: (2015)