Results 31 to 40 of about 22,402 (163)

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, Yool Lee, Cynthia T. Hsu, Julie A. Williams, Daniel Cavanaugh, Xiangzhong Zheng, Carly Stein, Paula Haynes, Han Wang, David H. Gutmann, Amita Sehgal   +10 more
doaj   +1 more source

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

Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation [PDF]

, 1993
Neurofibromin, the product of the neurofibromatosis type 1 (NF1) gene, is a ∼250 kDa protein expressed predominantly in cortical neurons and oligodendrocytes in the central nervous system (CNS) and sensory neurons and Schwann cells in the peripheral ...
J. L. Cole, J. L. Rutkowski, F. S. Collins, Collins, Francis S., D. H. Gutmann, G. I. Tennekoon, Rutkowski, J. Lynn, Tennekoon, Gihan I., Cole, Jeffrey L., Gutmann, D. H.   +9 more
core   +1 more source

NF1 (neurofibromin 1)

, 1997
Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is ...
Huret, JL
core   +1 more source

Lesional Psoriatic Epidermis Displays Reduced Neurofibromin Immunoreactivity

, 1995
Neurofibromin enhances the inactivation of protooncogene p21ras and has been suggested to function as a regulator of cell growth and differentiation. In normal skin, neurofibromin is particularly abundant in the basal keratinocytes of epidermis.
Karvonen, Jaakko, Karvonen, Seija-Liisa, Hirvonen, Outi, Ylä-Outinen, Heli, Peltonen, Juha   +4 more
core   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Neurofibromatosis in Children: Actually and Perspectives

Children, 2022
The three types of neurofibromatosis, namely type 1, type 2, and schwannomatosis, are generally associated with various benign tumors affecting the skin and the nervous system. On rare occasions, especially in patients with neurofibromatosis type 1 (NF1),
Maria Lucia Sur, Ionel Armat, Genel Sur, Diana-Cristina Pop, Gabriel Samasca, Iulia Lupan, Teodora-Larisa Timis, Ioan-Alexandru Florian, Daniel Sur   +8 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Untersuchungen zur posttranslationalen Regulation von Neurofibromin

, 2002
Die Neurofibromatose Typ 1 (NF1) ist eine erbliche Tumorerkrankung mit benignen Tumoren, wie Neurofibromen, und einer erhöhten Inzidenz zu malignen Tumoren.
Müller, Ralf
core   +1 more source

The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation [PDF]

, 2016
Neurofibromatosis type 1 (NF1) and Legius syndrome are related diseases with partially overlapping symptoms caused by alterations of the tumor suppressor genes NF1 (encoding the protein neurofibromin) and SPRED1 (encoding sprouty-related, EVH1 domain ...
Dunzendorfer-Matt, Theresia, Scheffzek, Klaus, Mercado, Ellen L, Maly, Karl, McCormick, Frank   +4 more
core   +1 more source