Optic pathway glioma (OPG) occurs in as many as one-fifth of individuals with the
neurofibromatosis type 1 (NF1) cancer predisposition syndrome. Generally considered low …

The endoplasmic reticulum (ER) employs stringent quality control mechanisms to ensure the
integrity of protein folding, allowing only properly folded, processed and assembled proteins …

Since the release of AlphaFold, researchers have actively refined its predictions and
attempted to integrate it into existing pipelines for determining protein structures. These …

Abstract Neurofibromatosis type 1 (OMIM 162200) affects~ 1 in 3,000 individuals worldwide
and is one of the most common monogenetic neurogenetic disorders that impacts brain …

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 …

Spinal neurofibromatosis (SNF) is a form of neurofibromatosis type 1 (NF1) characterized by
bilateral neurofibromas involving all spinal roots. The pathogenic mechanisms determining …

Abstract Neurofibromin (NF1), a Ras GTPase‐activating protein (GAP), catalyzes Ras‐
mediated GTP hydrolysis and thereby negatively regulates the Ras/MAPK pathway. NF1 …

Background: Neurofibromin, coded by the NF1 tumor suppressor gene, is the main negative
regulator of the RAS pathway and is frequently mutated in various cancers. Women with …

Neurofibromatosis 1 (NF1) is a multisymptomatic disorder with highly variable presentations,
which include short stature, susceptibility to formation of the characteristic benign tumors …

Neurofibromin (Nf1) is a giant multidomain protein encoded by the tumour-suppressor gene
NF1. NF1 is mutated in a common genetic disease, neurofibromatosis type I (NF1), and in …