High-content microscopy and machine learning characterize a cell morphology signature of <i>NF1</i> genotype in Schwann cells.

ABSTRACT: Neurofibromatosis type 1 (NF1) is a multi-system, autosomal dominant genetic disorder driven by the systemic loss of the NF1 protein neurofibromin. Loss of neurofibromin in Schwann cells is particularly detrimental, as the acquisition of a 'second-hit' (e.g., complete loss of NF1) can lead to the development of plexiform neurofibromas (pNF). pNFs are painful, disfiguring tumors with an approximately 1 in 5 chance of sarcoma transition. Selumetinib and mirdametinib are currently the only medicines approved by the U.S. Food and Drug Administration (FDA) for the treatment of pNFs. This motivates the need to develop new therapies, either derived to treat NF1 haploinsufficiency or complete loss of NF1 function. To identify new therapies, we need to understand the impact neu

SUBMITTER: Tomkinson J 

PROVIDER: S-EPMC12026412 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature