TY - JOUR
T1 - Parallels between tuberous sclerosis complex and neurofibromatosis 1
T2 - Common threads in the same tapestry
AU - Gutmann, D. H.
N1 - Funding Information:
From the Department of Neurology, Washington University School of Medicine, and the Neurofibromatosis Program, St. Louis Children's Hospital, St. Louis, MO. Supported in part by generous support from the National Institutes of Health (NS33494) and the National Tuberous Sclerosis Association. Address reprint requests to David 11. Gutmann, MD, PhD, Department of Neurology, Washington University School of Medicine, Box 8111, 660 South Euclid Ave, St. Louis, MO 63110. Copyright 9 1998 by W.B. Saunders Company 1071-9091/98/0504-000658.00/0
PY - 1998
Y1 - 1998
N2 - Neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC) represent two neurocutaneous disorders in which affected individuals develop tumors at an increased frequency. Although the clinical manifestations of these disorders are distinctive, the identification of the genes responsible for these disorders has demonstrated remarkable similarities on a molecular level between the NF1 and TSC tumor suppressor gene products. The NF1 and TSC2 gene products are hypothesized to function as growth regulators by modulating the activities of small GTPase molecules. The overlap between the functions of these tumor suppressor genes has yielded important insights into the molecular pathogenesis underlying each of these disorders and suggested possible pharmacological therapies specifically targeted for affected individuals.
AB - Neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC) represent two neurocutaneous disorders in which affected individuals develop tumors at an increased frequency. Although the clinical manifestations of these disorders are distinctive, the identification of the genes responsible for these disorders has demonstrated remarkable similarities on a molecular level between the NF1 and TSC tumor suppressor gene products. The NF1 and TSC2 gene products are hypothesized to function as growth regulators by modulating the activities of small GTPase molecules. The overlap between the functions of these tumor suppressor genes has yielded important insights into the molecular pathogenesis underlying each of these disorders and suggested possible pharmacological therapies specifically targeted for affected individuals.
UR - http://www.scopus.com/inward/record.url?scp=0032441556&partnerID=8YFLogxK
U2 - 10.1016/S1071-9091(98)80006-5
DO - 10.1016/S1071-9091(98)80006-5
M3 - Article
C2 - 9874855
AN - SCOPUS:0032441556
SN - 1071-9091
VL - 5
SP - 276
EP - 286
JO - Seminars in Pediatric Neurology
JF - Seminars in Pediatric Neurology
IS - 4
ER -