Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants

• Main Authors: Carolin Knauer (Author), Henrike Haltern (Author), Eric Schoger (Author), Sebastian Kügler (Author), Lennart Roos (Author), Laura C. Zelarayán (Author), Gerd Hasenfuss (Author), Wolfram-Hubertus Zimmermann (Author), Bernd Wollnik (Author), Lukas Cyganek (Author)
• Format: Book
• Published: Elsevier, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Gene variants in LZTR1 are implicated to cause Noonan syndrome associated with a severe and early-onset hypertrophic cardiomyopathy. Mechanistically, LZTR1 deficiency results in accumulation of RAS GTPases and, as a consequence, in RAS-MAPK signaling hyperactivity, thereby causing the Noonan syndrom...