@article{aeba976ecc404c90b38b764eae28a335,
title = "The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes",
abstract = "von Recklinghausen's neurofibromatosis (NF1) is a common inherited human disease. The events leading to patient symptoms from inheritance of a defective NF1 gene are unknown. Since knowledge of the distribution of the normal NF1 gene product should improve understanding of the pathogenesis of the disease, we raised antibodies against peptides coded by portions of the recently cloned human NF1 cDNA. These antibodies specifically recognize a 220 kd protein (neurofibromin) in both human and rat spinal cord. Neurofibromin is most abundant in the nervous system. Immunostaining of tissue sections indicates that neurons, oligodendrocytes, and nonmyelinating Schwann cells contain neurofibromin while astrocytes and myelinating Schwann cells do not. These results suggest a function for neurofibromin in the normal nervous system. Some NF1 disease manifestations, such as Schwann cell tumors and learning disabilities, may result from abnormalities in the cells that express neurofibromin.",
author = "Daston, {Maryellen M.} and Heidi Scrable and Michael Nordlund and Sturbaum, {Anne K.} and Nissen, {Lisa M.} and Nancy Ratner",
note = "Funding Information: We thank Drs. David Viskochil and Ray White, University of Utah School of Medicine, Salt Lake City, UT, for providing the plasmids from which our constructs were derived and Dr. A. Tzagaloff for providing PATH vectors. We are indebted to Michael Findley, who cut tissue sections in the initial phases of this work, to Haiyan Chen, who carried out the Western blots in Figure 3A, and to Dr. Scott Whittimore of The Miami Project to CureParalysis,whoprovided human spinalcords. Wealsothank our colleagues in the Department of Anatomy and Cell Biology, Drs. Michael Shipley and Linda Parysek, for critical reading of this manuscript and several helpful discussions and Dr. Rona Mirsky, University College London, for suggesting the dissociation of sciatic nervecells to analyze neurofibromin expression by Schwann cells. Wearegrateful to Melody Whitlock for preparing the manuscript. M. M. D. was the recipient of an Albert J. Ryan Graduate Fellowship. H. S. is a Fellow of the Jane Coffin Childs Memorial Fund for Medical Research. This work was supported by National Institutes of Health grant 1 ROI NS28840 to N. R., who is a Harry Weaver Scholar of the National Multiple Sclerosis Society.",
year = "1992",
month = mar,
doi = "10.1016/0896-6273(92)90270-N",
language = "English (US)",
volume = "8",
pages = "415--428",
journal = "Neuron",
issn = "0896-6273",
publisher = "Cell Press",
number = "3",
}