Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
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ABSTRACT:
SUBMITTER: Stephenson SEM
PROVIDER: S-EPMC9069070 | biostudies-literature | 2022 Apr
REPOSITORIES: biostudies-literature
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson Sarah E M SEM Costain Gregory G Blok Laura E R LER Silk Michael A MA Nguyen Thanh Binh TB Dong Xiaomin X Alhuzaimi Dana E DE Dowling James J JJ Walker Susan S Amburgey Kimberly K Hayeems Robin Z RZ Rodan Lance H LH Schwartz Marc A MA Picker Jonathan J Lynch Sally A SA Gupta Aditi A Rasmussen Kristen J KJ Schimmenti Lisa A LA Klee Eric W EW Niu Zhiyv Z Agre Katherine E KE Chilton Ilana I Chung Wendy K WK Revah-Politi Anya A Au P Y Billie PYB Griffith Christopher C Racobaldo Melissa M Raas-Rothschild Annick A Ben Zeev Bruria B Barel Ortal O Moutton Sebastien S Morice-Picard Fanny F Carmignac Virginie V Cornaton Jenny J Marle Nathalie N Devinsky Orrin O Stimach Chandler C Wechsler Stephanie Burns SB Hainline Bryan E BE Sapp Katie K Willems Marjolaine M Bruel Ange-Line AL Dias Kerith-Rae KR Evans Carey-Anne CA Roscioli Tony T Sachdev Rani R Temple Suzanna E L SEL Zhu Ying Y Baker Joshua J JJ Scheffer Ingrid E IE Gardiner Fiona J FJ Schneider Amy L AL Muir Alison M AM Mefford Heather C HC Crunk Amy A Heise Elizabeth M EM Millan Francisca F Monaghan Kristin G KG Person Richard R Rhodes Lindsay L Richards Sarah S Wentzensen Ingrid M IM Cogné Benjamin B Isidor Bertrand B Nizon Mathilde M Vincent Marie M Besnard Thomas T Piton Amelie A Marcelis Carlo C Kato Kohji K Koyama Norihisa N Ogi Tomoo T Goh Elaine Suk-Ying ES Richmond Christopher C Amor David J DJ Boyce Jessica O JO Morgan Angela T AT Hildebrand Michael S MS Kaspi Antony A Bahlo Melanie M Friðriksdóttir Rún R Katrínardóttir Hildigunnur H Sulem Patrick P Stefánsson Kári K Björnsson Hans Tómas HT Mandelstam Simone S Morleo Manuela M Mariani Milena M Scala Marcello M Accogli Andrea A Torella Annalaura A Capra Valeria V Wallis Mathew M Jansen Sandra S Weisfisz Quinten Q de Haan Hugoline H Sadedin Simon S Lim Sze Chern SC White Susan M SM Ascher David B DB Schenck Annette A Lockhart Paul J PJ Christodoulou John J Tan Tiong Yang TY
American journal of human genetics 20220401 4
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to regulate cell-cycle progression and cell growth and survival by targeting substrates including CYCLIN E1/2 and NOTCH for degradation via the ubiquitin proteasome system. We used a genotype-first approach and global data-sharing platforms to i ...[more]
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