Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

Documenti analoghi

• A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder
  di: Wang, Yuexia, et al.
  Pubblicazione: (2016)
• Early Onset Mandibuloacral Dysplasia due to Compound Heterozygous Mutations in ZMPSTE24
  di: Ahmad, Zahid, et al.
  Pubblicazione: (2010)
• Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings
  di: Miyoshi, Y, et al.
  Pubblicazione: (2008)
• ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability
  di: Spear, Eric D., et al.
  Pubblicazione: (2018)
• Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide
  di: Akinci, Baris, et al.
  Pubblicazione: (2017)