Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.

Abstract excerpt

Leucine-zipper-like posttranslational regulator 1 (LZTR1) is a member of the BTB-Kelch superfamily, which regulates the RAS proteostasis. Autosomal dominant (AD) mutations in LZTR1 have been identified in patients with Noonan syndrome (NS), a congenital anomaly syndrome. However, it remains unclear whether LZTR1 AD mutations regulate the proteostasis of the RAS subfamily molecules or cause NS-like phenotypes in...

Topics

• Animals
• Noonan Syndrome
• Mice
• Male
• Phenotype
• Proteostasis
• Humans
• Mutation
• ras Proteins
• Disease Models, Animal
• Transcription Factors
• Myocytes, Cardiac