Global proteomics and affinity mass spectrometry analysis of human Schwann cells indicates that variation in and loss of neurofibromin (NF1) alters protein expression and cellular and mitochondrial metabolism.

ABSTRACT: In efforts to evaluate potential biomarkers and drug targets for Neurofibromatosis Type I (NF1) we utilized affinity mass spectrometry and global proteomics to investigate how variation within and loss of NF1 affect immortalized human Schwann cells. We used Strep tagged mNf1 cDNAs (both wild type (WT) and variant) to affinity purity NF1 Protein-Protein interactors (PPIs) from the Schwann cells. We were able to identify 98 PPIs and show that some of these PPIs bind differentially to variant proteins. Next, we evaluated global proteomes. We identified over 1900 proteins in immortalized human Schwann cells both with and without NF1 expression. We identified 148 proteins with differential expression levels based on genotype. Following Ingenuity Pathway analysis (IPA) we found multiple pathways

SUBMITTER: Fay CX 

PROVIDER: S-EPMC11785952 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature