Results 91 to 100 of about 26,229 (202)

Loss of neurofibromin Ras-GAP activity enhances the formation of cardiac blood islands in murine embryos

eLife, 2015
Type I neurofibromatosis (NF1) is caused by mutations in the NF1 gene encoding neurofibromin. Neurofibromin exhibits Ras GTPase activating protein (Ras-GAP) activity that is thought to mediate cellular functions relevant to disease phenotypes.
Amanda D Yzaguirre, Arun Padmanabhan, Eric D de Groh, Kurt A Engleka, Jun Li, Nancy A Speck, Jonathan A Epstein   +6 more
doaj   +1 more source

an international symposium held in Pavia on July 4th, 2014 [PDF]

, 2014
New progresses into the molecular and cellular mechanisms of autism spectrum disorders (ASDs) have been discussed in 1 day international symposium held in Pavia (Italy) on July 4th, 2014 entitled “synapses as therapeutic targets for autism spectrum ...
Ben-Ari, Yehezkel, Bozzi, Yuri, Catania, Maria Vincenza, Cherubini, Enrico, Curatolo, Paolo, D’Angelo, Egidio, Mapelli, Lisa, Oberman, Lindsay M., Rosenmund, Christian   +8 more
core   +1 more source

Lesional Psoriatic Epidermis Displays Reduced Neurofibromin Immunoreactivity

Journal of Investigative Dermatology, 1995
Neurofibromin enhances the inactivation of protooncogene p21ras and has been suggested to function as a regulator of cell growth and differentiation. In normal skin, neurofibromin is particularly abundant in the basal keratinocytes of epidermis. The present study utilized antibodies raised against two synthetic peptides corresponding to different ...
Peltonen, Juha, Karvonen, Seija-Liisa, Ylä-Outinen, Heli, Hirvonen, Outi, Karvonen, Jaakko   +4 more
openaire   +2 more sources

Tumorigenic Properties of Neurofibromin-Deficient Neurofibroma Schwann Cells [PDF]

The American Journal of Pathology, 2001
Dermal and plexiform neurofibromas are peripheral nerve sheath tumors that arise frequently in neurofibromatosis type 1. The goal of the present study was to examine the tumorigenic properties of neurofibromin-deficient human Schwann cells (SCs) that were found to represent a subset of SCs present in approximately half of the total neurofibromas ...
D, Muir, D, Neubauer, I T, Lim, A T, Yachnis, M R, Wallace   +4 more
openaire   +2 more sources

Actin dynamics controlled by IqgC, a RasGAP at the crossroads between the IQGAP and fungal GAP1 families

FEBS Open Bio, Volume 16, Issue 2, Page 268-278, February 2026.
IqgC is a RasGAP from Dictyostelium discoideum. IqgC binds RasG via its RasGAP domain and deactivates it on macroendocytic cups, thereby suppressing the uptake of fluid and particles. IqgC has a positive effect on cell‐substratum adhesion, and its RGCt domain is required for recruitment to ventral foci.
Vedrana Filić, Darija Putar, Lucija Mijanović, Igor Weber   +3 more
wiley   +1 more source

Absence of Neurofibromin Induces an Oncogenic Metabolic Switch via Mitochondrial ERK-Mediated Phosphorylation of the Chaperone TRAP1

Cell Reports, 2017
Mutations in neurofibromin, a Ras GTPase-activating protein, lead to the tumor predisposition syndrome neurofibromatosis type 1. Here, we report that cells lacking neurofibromin exhibit enhanced glycolysis and decreased respiration in a Ras/ERK-dependent
Ionica Masgras, Francesco Ciscato, Anna Maria Brunati, Elena Tibaldi, Stefano Indraccolo, Matteo Curtarello, Federica Chiara, Giuseppe Cannino, Elena Papaleo, Matteo Lambrughi, Giulia Guzzo, Alberto Gambalunga, Marco Pizzi, Vincenza Guzzardo, Massimo Rugge, Stefania Edith Vuljan, Fiorella Calabrese, Paolo Bernardi, Andrea Rasola   +18 more
doaj   +1 more source

Deconvoluting mTOR biology [PDF]

, 2012
In metazoans, TOR is an essential protein that functions as a master regulator of cellular growth and proliferation. Over the past decade, there has been an explosion of information about this critical master kinase, ranging from the composition of the ...
Gutmann, David H, Weber, Jason D
core   +2 more sources

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma [PDF]

, 2012
Low-grade brain tumors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations ...
Demeter, Ryan, Ding, Li, Fulton, Lucinda L, Fulton, Robert S, Guha, Abhijit, Gutmann, David H, Hussain, Ibrahim, Kandoth, Cyriac, Leonard, Jeffrey R, Magrini, Vincent, Mardis, Elaine R, McLellan, Michael D, Miller, Christopher A, Wallis, John W, Wylie, Todd   +14 more
core   +2 more sources

Outcomes following definitive treatment of malignant peripheral nerve sheath tumor are significantly worse for patients with neurofibromatosis type 1: A Canadian Sarcoma Research and Clinical Collaboration study

Cancer, Volume 132, Issue 3, 1 February 2026.
Abstract Background Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas with a 5‐year survival rate of approximately 50%, secondary to their metastatic potential and resistance to therapy. MPNSTs can arise sporadically, as a late toxicity from therapeutic radiotherapy, or in patients with neurofibromatosis type 1 (NF1).
Rachel E. Aubrey, Pamela Psarianos, Anna T. Santiago, Anthony M. Griffin, Peter C. Ferguson, Abha A. Gupta, Hagit Peretz Soroka, David B. Shultz   +7 more
wiley   +1 more source

Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1

Gynecologic Oncology Reports, 2018
Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris, Wendell D. Jones, Marius D. Surleac, Andrei J. Petrescu, Darla Destephanis, Qing Zhang, Issam Hamadeh, Jeffrey S. Kneisl, Chad A. Livasy, Ram N. Ganapathi, David L. Tait, Mahrukh K. Ganapathi   +11 more
doaj   +1 more source