Results 11 to 20 of about 22,652 (194)
Neurofibromin Structure, Functions and Regulation [PDF]
Cells, 2020 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 (NF1).
Hélène Benedetti +2 more
exaly +4 more sources
Identification of Germinal Neurofibromin Hotspots [PDF]
Biomedicines, 2022 Neurofibromin is engaged in many cellular processes and when the proper protein functioning is impaired, it causes neurofibromatosis type 1 (NF1), one of the most common inherited neurological disorders. Recent advances in sequencing and screening of the
, Jesus Lacal, Maria Isidoro-García
exaly +4 more sources
Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase [PDF]
FEBS Letters, 1996 The critical function of the neurofibromatosis type 1 NF1) gene product (neurofabromin) is not well defined except that neurofibromin has homology with a family of the GTPase‐activating proteins (GAPs). In this study, we confirmed that neuofibromin is constitutively phosphorylated and detected kinase activities which specifically phosphorylated the ...
H Saya
exaly +5 more sources
Nuclear Isoforms of Neurofibromin Are Required for Proper Spindle Organization and Chromosome Segregation [PDF]
Cells, 2020 Mitotic spindles are highly organized, microtubule (MT)-based, transient structures that serve the fundamental function of unerring chromosome segregation during cell division and thus of genomic stability during tissue morphogenesis and homeostasis ...
Charoula Peta, Dimitra Mangoura
exaly +4 more sources
Absence of Neurofibromin Induces an Oncogenic Metabolic Switch via Mitochondrial ERK-Mediated Phosphorylation of the Chaperone TRAP1 [PDF]
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
Paolo Bernardi +2 more
exaly +5 more sources
Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules [PDF]
Somatic Cell and Molecular Genetics, 1993 The neurofibromatosis type 1 (NF1) gene was recently identified by positional cloning and found to encode a protein with structural and functional homology to mammalian and yeast GTPase-activating proteins (GAPs). Using antibodies directed against the NF1 gene product, a protein of approximately 250 kDa was identified and termed neurofibromin.
Gregory, Paula E. +8 more
openaire +5 more sources
Genetic interactions between neurofibromin and endothelin receptor B in mice. [PDF]
PLoS ONE, 2013 When mutations in two different genes produce the same mutant phenotype, it suggests that the encoded proteins either interact with each other, or act in parallel to fulfill a similar purpose.
Mugdha Deo +2 more
doaj +3 more sources
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is implicated.
Wimmer, K, K Wimmer
openaire +3 more sources
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2010 Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is implicated.
Huret, JL
openaire +4 more sources
Neurofibromin regulates metabolic rate via neuronal mechanisms in Drosophila [PDF]
Nature Communications, 2021 Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in neurofibromin and associated with disruptions in physiology and behavior. Here the authors show that neurofibromin regulates metabolic homeostasis via a discrete brain circuit in
Valentina Botero +12 more
doaj +2 more sources