Neurofibromatosis type 1: fundamental insights into cell signalling and cancer

E Rad, AR Tee - Seminars in cell & developmental biology, 2016 - Elsevier
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour predisposition
syndrome that is caused through loss of function mutations of a tumour suppressor gene …

Advancement in research and therapy of NF1 mutant malignant tumors

J Tao, D Sun, L Dong, H Zhu, H Hou - Cancer cell international, 2020 - Springer
The NF1 gene encodes neurofibromin, which is one of the primary negative regulatory
factors of the Ras protein. Neurofibromin stimulates the GTPase activity of Ras to convert it …

Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology

P Dourlen, FJ Fernandez-Gomez, C Dupont… - Molecular …, 2017 - nature.com
A recent genome-wide association meta-analysis for Alzheimer's disease (AD) identified 19
risk loci (in addition to APOE) in which the functional genes are unknown. Using Drosophila …

Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC activation

C Anastasaki, DH Gutmann - Human molecular genetics, 2014 - academic.oup.com
Abstract Neurofibromatosis type 1 (NF1) is a common neurodevelopmental disorder in
which affected individuals are prone to learning, attention and behavioral problems …

Augmin complex activity finetunes dendrite morphology through non-centrosomal microtubule nucleation in vivo

Y Zhang, HH Sung, AB Ziegler, YC Wu… - Journal of cell …, 2024 - journals.biologists.com
During development, neurons achieve a stereotyped neuron type-specific morphology,
which relies on dynamic support by microtubules (MTs). An important player is the augmin …

Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas

M Scheer, S Leisz, E Sorge, O Storozhuk… - International Journal of …, 2021 - mdpi.com
Neurofibromatosis type 1 (NF1) gene mutations or alterations occur within neurofibromatosis
type 1 as well as in many different malignant tumours on the somatic level. In glioblastoma …

Loss of NF1 in Drosophila larvae causes tactile hypersensitivity and impaired synaptic transmission at the neuromuscular junction

A Dyson, M Ryan, S Garg, DG Evans… - Journal of …, 2022 - Soc Neuroscience
Autism spectrum disorder (ASD) is a neurodevelopmental condition in which the
mechanisms underlying its core symptomatology are largely unknown. Studying animal …

Developmental loss of neurofibromin across distributed neuronal circuits drives excessive grooming in Drosophila

LB King, T Boto, V Botero, AM Aviles, BM Jomsky… - PLoS …, 2020 - journals.plos.org
Neurofibromatosis type 1 is a monogenetic disorder that predisposes individuals to tumor
formation and cognitive and behavioral symptoms. The neuronal circuitry and …

Pumping the brakes on RAS–negative regulators and death effectors of RAS

DR Harrell Stewart, GJ Clark - Journal of cell science, 2020 - journals.biologists.com
Mutations that activate the RAS oncoproteins are common in cancer. However, aberrant
upregulation of RAS activity often occurs in the absence of activating mutations in the RAS …

Genetic and Functional Studies Implicate Synaptic Overgrowth and Ring Gland cAMP/PKA Signaling Defects in the Drosophila melanogaster Neurofibromatosis-1 …

JA Walker, JY Gouzi, JB Long, S Huang… - PLoS …, 2013 - journals.plos.org
Neurofibromatosis type 1 (NF1), a genetic disease that affects 1 in 3,000, is caused by loss
of a large evolutionary conserved protein that serves as a GTPase Activating Protein (GAP) …