Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00873979 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
WWC proteins-mediated compensatory mechanism restricts schwannomatosis driven by loss of function.
Sci Adv
January 2025
Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China.
NF2-related schwannomatosis, previously known as neurofibromatosis type 2, is a genetic disorder characterized by nerve tumors due to gene mutations. Mice with deletion develop schwannomas slowly with low penetrance, hence inconvenient for preclinical studies. Here, we show that NF2, by recruiting E3 ubiquitin ligases β-TrCP1/2, promotes WWC1-3 ubiquitination and degradation.
View Article and Find Full Text PDFAllosteric modulation of NF1 GAP: Differential distributions of catalytically competent populations in loss-of-function and gain-of-function mutants.
Protein Sci
February 2025
Computational Structural Biology Section, Frederick National Laboratory for Cancer Research in the Cancer Innovation Laboratory, National Cancer Institute, Frederick, Maryland, USA.
Neurofibromin (NF1), a Ras GTPase-activating protein (GAP), catalyzes Ras-mediated GTP hydrolysis and thereby negatively regulates the Ras/MAPK pathway. NF1 mutations can cause neurofibromatosis type 1 manifesting tumors, and neurodevelopmental disorders. Exactly how the missense mutations in the GAP-related domain of NF1 (NF1) allosterically impact NF1 GAP to promote these distinct pathologies is unclear.
View Article and Find Full Text PDFDisproportionate adverse event signals of selumetinib in neurofibromatosis type I: insights from FAERS.
Front Pharmacol
January 2025
Department of Oncology, Zibo Municipal Hospital, Zibo, ShanDong, China.
Background: Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder with limited treatment options. Selumetinib, a MEK1/2 inhibitor, has emerged as a promising therapy for inoperable NF1-related plexiform neurofibromas.
Methods: Our retrospective pharmacovigilance study utilized the FDA Adverse Event Reporting System (FAERS) to comprehensively evaluate Selumetinib's safety profile in real-world settings.
Cytomegalovirus Colitis Masquerading as a Recurrent Colonic Polyp in a Patient With Neurofibromatosis Type 1.
ACG Case Rep J
January 2025
Department of Medical Oncology, University of Kansas Medical Center, Westwood, KS.
Cytomegalovirus colitis most commonly affects immunocompromised patients, although it is a rare cause of gastrointestinal bleeding in immunocompetent patients. Older age, chronic disease, and critical illness are also important risk factors and may lead providers to consider the diagnosis in otherwise immunocompetent patients. Endoscopic presentation is variable and does not significantly influence outcomes.
View Article and Find Full Text PDFSelumetinib for children with neurofibromatosis type 1 and plexiform neurofibromas that can't be removed by surgery, and impact on how the condition affects caregivers: a plain language summary.
J Comp Eff Res
January 2025
Head of the 3rd Neuropsychiatric Department of the Research Clinical Institute of Childhood of the Moscow Region, Moscow, Russia.
What Is This Summary About?: Neurofibromatosis type 1 (also called NF1) is a rare genetic condition. It causes a range of symptoms that develop from childhood onwards and worsen over time. Some children with NF1 develop non-cancerous nerve tumors called plexiform neurofibromas.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!