From neurodevelopment to neurodegeneration: the interaction of neurofibromin and valosin-containing protein/p97 in regulation of dendritic spine formation [PDF]
, 2012 Both Neurofibromatosis type I (NF1) and inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) are autosomal dominant genetic disorders.
Yi-Ping Hsueh, Hsueh Yi-Ping
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Diagnostic and therapeutic process of neurofibromatosis type 1 and type 2
Journal of Education, Health and SportNeurofibromatosis is one of the most common genetic diseases. It is inherited in an autosomal dominant manner. It is divided into two genetically distinct subtypes, characterised by multiple skin lesions and tumours of the peripheral and central nervous
Michał Leśniewski +3 more
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Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1. [PDF]
J Pediatr Genet, 2023 Lin G +8 more
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Structural analysis of the GAP-related domain from neurofibromin and its implications [PDF]
, 1998 Neurofibromin is the product of the NF1 gene, whose alteration is responsible for the pathogenesis of neurofibromatosis type 1 (NF1), one of the most frequent genetic disorders in man.
Stege, P. +13 more
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Neurofibromin 1 in mushroom body neurons mediates circadian wake drive through activating cAMP-PKA signaling. [PDF]
Nat Commun, 2021 Machado Almeida P +4 more
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The Roles of Ras and Neurofibromin 1 in Human Neuroblastoma Stem Cell Malignancy [PDF]
, 2011 Cancer stem or tumor-initiating cells are present in many human cancers. However, the molecular mechanisms responsible for the clinical aggressiveness of these cells are still unclear.
Han, Dan
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Novel insights into neurofibromin function and human neurofibromatosis type 1 mutations using genetically engineered mouse models [PDF]
, 2018 Loss of NF1 in different developmental and cellular contexts leads to unique physiological outcomes due to loss of neurofibromin function, including embryonic lethality, sporadic cancers, and the genetic disorder NF1.
Turner, Ashley Nicole
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Molecular Dynamics Simulations of the SPRED2Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin [PDF]
The homozygous Leu100Pro amino acid substitution in SPRED2, a protein negatively controlling RAS function, has recently been identified to be causally linked to a recessive form of Noonan syndrome.
Marialetizia Motta +5 more
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Crosslinking of the surface immunoglobulin receptor in B lymphocytes induces a redistribution of neurofibromin but not p120-GAP [PDF]
, 1994 The activation of Ras proteins is a key step in the signal transduction pathways triggered by ligand-bound cell surface receptors. The GTPase activating proteins (GAPs) p120-GAP and neurofibromin, the neurofibromatosis-type 1 (NF1) gene product, are ...
Boyer, M. J. +3 more
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Neurofibromatosis Type 1 Tumor Suppressor, Neurofibromin, Regulates the Neuronal Differentiation of PC12 cells via its Associating Protein, CRMP-2 [PDF]
, 2008 application/pdf学位論文(Thesis)To understand the role of neurofibromin in neuronal cells, we identified a set of cellular proteins associating to neurofibromin with a newly developed proteomic strategy, and found that a group of neuronal proteins such as an ...
105702, Patrakitkomjorn, Siriporn
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