Results 21 to 30 of about 24,084 (164)

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, S. Lechner, K. Mellert, Lechner, Stefan, Scheffzek, Klaus, Lüdeke, Manuel, Mellert, Kevin, R. Kemkemer, K. Scheffzek, Kemkemer, Ralf, P. Möller, D. Kaufmann, M. Lüdeke, Möller, Peter, Kaufmann, Dieter, M. Lamla   +15 more
core   +1 more source

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

Molecular Therapy: Nucleic Acids, 2022
We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase ...
André Leier, Marc Moore, Hui Liu, Michael Daniel, Alexis M. Hyde, Ludwine Messiaen, Bruce R. Korf, Jamuna Selvakumaran, Lukasz Ciszewski, Laura Lambert, Jeremy Foote, Margaret R. Wallace, Robert A. Kesterson, George Dickson, Linda Popplewell, Deeann Wallis   +15 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

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules [PDF]

, 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).
Gregory, Paula E., Jacks, Tyler, Mitchell, Anna L., Collins, Francis S., Gutmann, David H., Wood, Deborah L., Jove, Richard, Boguski, Mark, Park, Soochul   +8 more
core   +1 more source

NF1 (neurofibromin 1) [PDF]

, 2006
Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is ...
Wimmer, K, K Wimmer
core   +1 more source

Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle

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, Jian Xu, David H. Gutmann   +2 more
doaj   +1 more source

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

Scientific Reports, 2021
Neurofibromatosis Type 1 (NF1) is a genetic condition affecting approximately 1:3500 persons worldwide. The NF1 gene codes for neurofibromin protein, a GTPase activating protein (GAP) and a negative regulator of RAS.
Josep Biayna, Helena Mazuelas, Bernat Gel, Ernest Terribas, Gabrijela Dumbovic, Inma Rosas, Juana Fernández-Rodriguez, Ignacio Blanco, Elisabeth Castellanos, Meritxell Carrió, Conxi Lazaro, Eduard Serra   +11 more
doaj   +1 more source

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

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

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