Results 21 to 30 of about 296 (112)

Restoring functional neurofibromin by protein transduction [PDF]

Scientific Reports, 2018
AbstractIn 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-MAPK pathway.
Mellert, Kevin, Lechner, Stefan, Lüdeke, Manuel, Lamla, Markus, Möller, Peter, Kemkemer, Ralf, Scheffzek, Klaus, Kaufmann, Dieter   +7 more
openaire   +3 more sources

A COMPREHENSIVE APPROACH TO THE STUDY OF PECULIAR PROPERTIES OF NEUROFIBROMATOSIS TYPE 1

Креативная хирургия и онкология, 2017
Having made a literature review, the writers of the article analyze the data of native and foreign researchers on the study of neurofibromatosis type 1.
R. N. Mustafin, M. A. Bermisheva, E. K. Khusnutdinova   +2 more
doaj   +1 more source

Combining nonsense mutation suppression therapy with nonsense-mediated decay inhibition in neurofibromatosis type 1

Molecular Therapy: Nucleic Acids, 2023
Neurofibromatosis type 1 (NF1) results from germline mutations in the tumor-suppressor gene NF1 and predisposes patients to developing nervous system tumors.
Sara H. Osum, Eunice I. Oribamise, Stanislas M.A.S. Corbière, Mandy Taisto, Tyler Jubenville, Alex Coutts, Mark N. Kirstein, James Fisher, Christopher Moertel, Ming Du, David Bedwell, David A. Largaespada, Adrienne L. Watson   +12 more
doaj   +1 more source

From neurodevelopment to neurodegeneration: the interaction of neurofibromin and valosin-containing protein/p97 in regulation of dendritic spine formation

Journal of Biomedical Science, 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.
Hsueh Yi-Ping
doaj   +1 more source

RAS and beyond: the many faces of the neurofibromatosis type 1 protein

Disease Models & Mechanisms, 2022
Neurofibromatosis type 1 is a rare neurogenetic syndrome, characterized by pigmentary abnormalities, learning and social deficits, and a predisposition for benign and malignant tumor formation caused by germline mutations in the NF1 gene.
Corina Anastasaki, Paola Orozco, David H. Gutmann   +2 more
doaj   +1 more source

Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR [PDF]

Cell Reports, 2020
Sprouty-related, EVH1 domain-containing (SPRED) proteins negatively regulate RAS/mitogen-activated protein kinase (MAPK) signaling following growth factor stimulation. This inhibition of RAS is thought to occur primarily through SPRED1 binding and recruitment of neurofibromin, a RasGAP, to the plasma membrane.
Wupeng Yan, Evan Markegard, Srisathiyanarayanan Dharmaiah, Anatoly Urisman, Matthew Drew, Dominic Esposito, Klaus Scheffzek, Dwight V. Nissley, Frank McCormick, Dhirendra K. Simanshu   +9 more
openaire   +4 more sources

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

Molecular Genetics & Genomic Medicine, 2021
Background Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the seven National Institute of Health ...
Nahla N.Abdel‐Aziz, Ghada Y.El‐Kamah, Rabab A.Khairat, Hanan R.Mohamed, Yehia Z.Gad, Akmal M. El‐Ghor, Khalda S. Amr   +6 more
doaj   +1 more source

Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation

Kidney & Blood Pressure Research, 2023
Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene.
Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan   +7 more
doaj   +1 more source

Reduced expression of neurofibromin in human meningiomas [PDF]

British Journal of Cancer, 1997
Meningiomas are common, mostly benign, tumours arising from leptomeningeal cells of the meninges, which frequently contain mutations in the neurofibromatosis type 2 (NF2) gene. In this study, we analysed a protein product of the neurofibromatosis type 1 (NF1) gene, neurofibromin, in human established leptomeningeal cells LTAg2B, in 17 sporadic ...
V, Sundaram, J H, Lee, J A, Harwalkar, D J, Stein, M, Roudebush, D W, Stacey, M, Golubic   +6 more
openaire   +2 more sources

Vcp Overexpression and Leucine Supplementation Increase Protein Synthesis and Improve Fear Memory and Social Interaction of Nf1 Mutant Mice

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, Tzyy-Nan Huang, Hsiao-Tang Hu, Tzu-Li Yen, Yi-Ping Hsueh   +4 more
doaj   +1 more source