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Lack of evidence for germline pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome.
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Hereditary Cancer Program, Catalan Institute of Oncology, Oncobell Program, IDIBELL, Hospitalet de Llobregat, Barcelona 08908, Spain.
Inhibition of HECT E3 ligases as potential therapy for COVID-19.
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Department of Pathology, Beth Israel Deaconess Cancer Center, Harvard Medical School, Boston, MA, 02215, USA.
SARS-CoV-2 is responsible for the ongoing world-wide pandemic which has already taken more than two million lives. Effective treatments are urgently needed. The enzymatic activity of the HECT-E3 ligase family members has been implicated in the cell egression phase of deadly RNA viruses such as Ebola through direct interaction of its VP40 Protein.
View Article and Find Full Text PDFUbiquitin Ligase Activities of WWP1 Germline Variants K740N and N745S.
Biochemistry
February 2021
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts 02115, United States.
WWP1 is an E3 ubiquitin ligase that has been reported to target the tumor suppressor lipid phosphatase PTEN. K740N and N745S are recently identified germline variants of WWP1 that have been linked to PTEN-associated cancers [Lee, Y. R.
View Article and Find Full Text PDFWWP1 germline variants are associated with normocephalic autism spectrum disorder.
Cell Death Dis
July 2020
MBC, Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, TO, 10126, Italy.
WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.
N Engl J Med
May 2020
From the Cancer Research Institute, Beth Israel Deaconess Cancer Center (Y.-R.L., T.K., J.Z., N.P., J.L., W.W., P.P.P.), and the Departments of Medicine (Y.-R.L., T.K., N.P., P.P.P.) and Pathology (J.Z., J.L., W.W., P.P.P.), Beth Israel Deaconess Medical Center, Harvard Medical School, Boston; the Genomic Medicine Institute (L.Y., Y.N., B.L., C.E.) and the Department of Quantitative Health Sciences (Y.N.), Lerner Research Institute, Cleveland Clinic, the Taussig Cancer Institute (C.E.), the Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine (C.E.), and the Germline High Risk Cancer Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University (C.E.) - all in Cleveland; the Department of Radiation and Medical Oncology, Zhongnan Hospital of Wuhan University (J.Z.), and the Medical Research Institute, Wuhan University (J.Z.) - both in Wuhan, China; and the Molecular Biotechnology Center, Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, Italy (P.P.P.).
Background: Patients with hamartoma tumor syndrome (PHTS) have germline mutations in the tumor-suppressor gene encoding phosphatase and tensin homologue (). Such mutations have been associated with a hereditary predisposition to multiple types of cancer, including the Cowden syndrome. However, a majority of patients who have PHTS-related phenotypes have tested negative for mutations.
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