Neurofibromin and suppression of tumorigenesis: beyond the GAP

J Mo, SL Moye, RM McKay, LQ Le - Oncogene, 2022 - nature.com
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease and one
of the most common inherited tumor predisposition syndromes, affecting 1 in 3000 …

Ras-specific gtpase-activating proteins—structures, mechanisms, and interactions

K Scheffzek, G Shivalingaiah - Cold Spring …, 2019 - perspectivesinmedicine.cshlp.org
Ras-specific GTPase-activating proteins (RasGAPs) down-regulate the biological activity of
Ras proteins by accelerating their intrinsic rate of GTP hydrolysis, basically by a transition …

Gene-targeted therapy for neurofibromatosis and schwannomatosis: The path to clinical trials

V Staedtke, K Anstett, D Bedwell, M Giovannini… - Clinical …, 2024 - journals.sagepub.com
Numerous successful gene-targeted therapies are arising for the treatment of a variety of
rare diseases. At the same time, current treatment options for neurofibromatosis 1 and …

Inhibition and termination of physiological responses by GTPase activating proteins

E Ligeti, S Welti, K Scheffzek - Physiological reviews, 2012 - journals.physiology.org
Physiological processes are strictly organized in space and time. However, in cell
physiology research, more attention is given to the question of space rather than to time. To …

Neurofibromin regulates somatic growth through the hypothalamic–pituitary axis

B Hegedus, TH Yeh, DY Lee, RJ Emnett… - Human molecular …, 2008 - academic.oup.com
To study the role of the neurofibromatosis-1 (NF1) gene in mammalian brain development,
we recently generated mice in which Nf1 gene inactivation occurs in neuroglial progenitor …

Ral overactivation in malignant peripheral nerve sheath tumors

V Bodempudi, F Yamoutpoor, W Pan… - … and cellular biology, 2009 - Am Soc Microbiol
Ras leads an important signaling pathway that is deregulated in neurofibromatosis type 1
and malignant peripheral nerve sheath tumor (MPNST). In this study, we show that …

NF1, neurofibromin and gene therapy: prospects of next-generation therapy

XW Cui, JY Ren, YH Gu, QF Li… - Current Gene …, 2020 - ingentaconnect.com
Neurofibromatosis type 1 [NF1] is an autosomal dominant genetic disorder affecting multiple
organs. NF1 is well known for its various clinical manifestations, including café-au-late …

Clinical characteristics and in silico analysis of congenital pseudarthrosis of the tibia combined with neurofibromatosis type 1 caused by a novel NF1 mutation

J Xu, Y Zhang, K Zhu, J Li, Y Guan, X He, X Jin… - Frontiers in …, 2022 - frontiersin.org
Congenital pseudarthrosis of the tibia (CPT) is a rare congenital bone malformation, which
has a strong relationship with Neurofibromatosis type 1 (NF1). NF1 is an autosomal …

PACAP and VIP affect NF1 expression in rat malignant peripheral nerve sheath tumor (MPNST) cells

S Giunta, A Castorina, A Adorno, V Mazzone… - Neuropeptides, 2010 - Elsevier
In our previous study we have identified PACAP, VIP and their receptors in rat malignant
peripheral nerve sheath tumor (MPNST) cells, thus showing anti-apoptotic roles. Recently it …

Angiogenic expression profile of normal and neurofibromin-deficient human Schwann cells

SL Thomas, GH De Vries - Neurochemical research, 2007 - Springer
Peripheral nerve sheath tumors from individuals with Neurofibromatosis Type 1 (NF1) are
highly vascular and contain Schwann cells which are deficient in neurofibromin. This study …