Allelic strengths of encephalopathy-associated <i>UBA5</i> variants correlate between in vivo and in vitro assays.

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作者： Xueyang,Pan ^[1] ; Albert N,Alvarez ^[2] ; Mengqi,Ma ^[3] ; Shenzhao,Lu ^[1] ; Michael W,Crawford ^[2] ; Lauren C,Briere ^[1] ; Oguz,Kanca ^[2] ; Shinya,Yamamoto ^[3] ; David A,Sweetser ^[4] ; Jenny L,Wilson ^[1] ; Ruth J,Napier ^[2] ; Jonathan N,Pruneda ^[1] ; Hugo J,Bellen ^[2]

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States. ^[1] Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States. ^[2] Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, United States. ^[3] Center for Genomic Medicine, Massachusetts General Hospital, Boston, United States. ^[4] Department of Neuroscience, Baylor College of Medicine, Houston, United States. ^[5] Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, United States. ^[6] Division of Pediatric Neurology, Department of Pediatrics, Oregon Health & Science University, Portland, United States. ^[7] VA Portland Health Care System, Portland, United States. ^[8] Division of Arthritis & Rheumatic Diseases, Oregon Health & Science University, Portland, United States. ^[9]

关键词 D. melanogaster UBA5 UFMylation allelic series developmental and epileptic encephalopathy genetics genomics human medicine rare disease

主题词人类(Humans);脑疾病(Brain Diseases);动作障碍(Movement Disorders);突变, 误义(Mutation, Missense);泛素激活酶类(Ubiquitin-Activating Enzymes);果蝇属(Drosophila);果蝇蛋白质类(Drosophila Proteins)

DOI 10.7554/eLife.89891

PMID 38079206

发布时间 2024-04-02

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