RAS proteins and their regulators in human disease

DK Simanshu, DV Nissley, F McCormick - Cell, 2017 - cell.com
RAS proteins are binary switches, cycling between ON and OFF states during signal
transduction. These switches are normally tightly controlled, but in RAS-related diseases …

Neurofibromatosis type 1

DH Gutmann, RE Ferner, RH Listernick… - Nature Reviews …, 2017 - nature.com
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …

Neurofibromatosis type 1: a multidisciplinary approach to care

AC Hirbe, DH Gutmann - The Lancet Neurology, 2014 - thelancet.com
Neurofibromatosis type 1 is a relatively common inherited disorder. Patients have a high
predisposition to develop both benign and malignant tumours. Although many …

New perspectives on pheochromocytoma and paraganglioma: toward a molecular classification

J Crona, D Taïeb, K Pacak - Endocrine reviews, 2017 - academic.oup.com
A molecular biology–based taxonomy has been proposed for pheochromocytoma and
paraganglioma (PPGL). Data from the Cancer Genome Atlas revealed clinically relevant …

Neurofibromin structure, functions and regulation

M Bergoug, M Doudeau, F Godin, C Mosrin, B Vallée… - Cells, 2020 - mdpi.com
Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene
NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 …

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor

N Ratner, SJ Miller - Nature Reviews Cancer, 2015 - nature.com
Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …

Ras history: The saga continues

AD Cox, CJ Der - Small GTPases, 2010 - Taylor & Francis
Although the roots of Ras sprouted from the rich history of retrovirus research, it was the
discovery of mutationally activated RAS genes in human cancer in 1982 that stimulated an …

RAS oncogenes: the first 30 years

M Malumbres, M Barbacid - Nature Reviews Cancer, 2003 - nature.com
From the pioneering work with acute transforming retroviruses to the current post-genomic
era, RAS genes have always been at the leading edge of signal transduction and molecular …

Small GTP-binding proteins

Y Takai, T Sasaki, T Matozaki - Physiological reviews, 2001 - journals.physiology.org
Small GTP-binding proteins (G proteins) exist in eukaryotes from yeast to human and
constitute a superfamily consisting of more than 100 members. This superfamily is …

Ras oncogenes: split personalities

AE Karnoub, RA Weinberg - Nature reviews Molecular cell biology, 2008 - nature.com
Extensive research on the Ras proteins and their functions in cell physiology over the past
30 years has led to numerous insights that have revealed the involvement of Ras not only in …