Restoring functional neurofibromin by protein transduction [PDF]
, 2018 In Neurofibromatosis 1 (NF1) germ line loss of function mutations result in reduction of cellular neurofibromin content (NF1+/−, NF1 haploinsufficiency). The Ras-GAP neurofibromin is a very large cytoplasmic protein (2818 AA, 319 kDa) involved in the RAS-
Lamla, Markus +15 more
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Untersuchungen zur posttranslationalen Regulation von Neurofibromin [PDF]
, 2002 Die Neurofibromatose Typ 1 (NF1) ist eine erbliche Tumorerkrankung mit benignen Tumoren, wie Neurofibromen, und einer erhöhten Inzidenz zu malignen Tumoren.
Müller, Ralf
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Neurobiology of Disease, 1995 Vascular pathology is an underestimated complication of neurofibromatosis 1 (NF1). Manifestations include renovascular stenosis with associated hypertension, cerebrovascular occlusion, visceral ischaemia and aneurysms of smaller arteries.
Karen K. Norton +2 more
doaj +1 more source
Neurofibromin interacts with the cytoplasmic Dynein Heavy Chain 1 in melanosomes of human melanocytes [PDF]
FEBS Letters, 2013 Neurofibromin (NF1) is encoded by the NF1 tumour suppressor gene. Mutations result in a disorder known as Neurofibromatosis Type 1 (NF‐1), and patients are often diagnosed due to the presence of unusual pigmentary patterns that include Café au lait macules (CALMs). Little is known about how loss of NF1 results in pigmentary defects in melanocytes.
Arun, Vedant +4 more
openaire +2 more sources
The Neurofibromatosis 1 Gene Product Neurofibromin Regulates Pituitary Adenylate Cyclase-Activating Polypeptide-Mediated Signaling in Astrocytes [PDF]
, 2003 Individuals with the neurofibromatosis 1 (NF1)-inherited tumor predisposition syndrome develop low-grade astrocytomas. TheNF1tumor suppressor gene product neurofibromin exhibits GTPase-activating activity (GAP) toward RAS, such that loss of neurofibromin
Biplab Dasgupta +2 more
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A Conserved Circadian Function for the Neurofibromatosis 1 Gene
Cell Reports, 2018 Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Lei Bai +10 more
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Cell Reports, 2020 Summary: Neurofibromatosis type 1 (NF1) is a dominant genetic disorder manifesting, in part, as cognitive defects. Previous study indicated that neurofibromin (NF1 protein) interacts with valosin-containing protein (VCP)/P97 to control dendritic spine ...
Yu-Tzu Shih +4 more
doaj +1 more source
Localization of Neurofibromin to Keratinocytes and Melanocytes in Developing Rat and Human Skin [PDF]
, 1994 Pigmentation defects are common in the inherited disease type 1 neurofibromatosis (NF1), predicting a role for the NF1 gene product, neurofibromin, in the skin.
Malhotra, Ritu, Ratner, Nancy
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Silver Nanoparticles Selectively Treat Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors in a Neurofibromin-Dependent Manner [PDF]
, 2022 Neurofibromatosis type 1 (NF1) is among the most common neurogenic disorders, characterized by loss of function mutations in the neurofibromin gene (NF1). NF1 patients are extremely susceptible to developing neurofibromas, which can transform into deadly
Cale D. Fahrenholtz +13 more
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Neurofibromin Deficiency Induces Endothelial Cell Proliferation and Retinal Neovascularization [PDF]
, 2018 Purpose: Neurofibromatosis type 1 (NF1) is the result of inherited mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin.
Stephen B. Haigh +25 more
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