生物学
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5 篇有效样本 · 按发表日期由新到旧排列
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DDX3X syndrome mutations lock DDX3X-RNA conformational states to drive persistent pathological condensation and neuronal death
作者Poulami Ghosh; Shivani Krishna Kapuganti; Sabhyata Gopal; Vhasnsciani A R; Swati Lamba; Purusharth I Rajyaguru; Sannula Kesavardhana
作者单位1. Department of Biochemistry, Division of Biological Sciences, Indian Institute of Science , C V Raman Avenue, Bengaluru, Karnataka 560012 ,; 2. Department of Bioengineering, Indian Institute of Science , C V Raman Avenue, Bengaluru, Karnataka 560012 ,
Specific knockout of kidney homogentisate 1,2-dioxygenase reveals that local metabolism of tyrosine and homogentisic acid is negligible in alkaptonuria
作者Dominic A Rutland; Brendan P Norman; Juliette H Hughes; Peter J M Wilson; Hazel Sutherland; Rebecca L W Brown; James A Gallagher; Lakshminarayan R Ranganath; George Bou-Gharios
作者单位1. Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool , 6 West Derby Street, Liverpool L7 8TX ,
Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease
作者Hiu Chuen Lok; Carol Dobson-Stone; Marianne Hallupp; Sophie Matis; Ramon Landin-Romero; Boris Guennewig; Hamish Mundell; Anthony S Don; Jennifer Fifita; Emily P McCann; Sandrine Chan Moi Fat; Ian P Blair; Karen A Mather; Anbupalam Thalamuthu; Wei Wen; Perminder S Sachdev; William S Brooks; Olivier Piguet; Glenda M Halliday; Woojin S Kim; John B Kwok
作者单位1. School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney , Camperdown, 2006 NSW ,; 2. Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney , Camperdown, 2006 NSW ,; 3. School of Health Sciences, Faculty of Medicine and Health, The University of Sydney , Camperdown, 2006 NSW ,; 4. Charles Perkins Centre, The University of Sydney , Camperdown, 2006 NSW ,; 5. Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University , Sydney, 2109 NSW ,; 6. Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, 2052 NSW ,; 7. Neuropsychiatric Institute, Prince of Wales Hospital , Sydney, 2052 NSW ,; 8. Neuroscience Research Australia , Randwick, 2031 NSW ,; 9. School of Psychology, The University of Sydney , Camperdown, 2006 NSW ,
Viral vector-mediated SLC9A6 gene replacement reduces cerebellar motor and molecular abnormalities in the shaker rat model of Christianson syndrome
作者Collin J Anderson; Karla P Figueroa; Sharan Paul; Mandi Gandelman; Warunee Dansithong; Joseph A Katakowski; Daniel R Scoles; Stefan M Pulst
作者单位1. School of Medical Sciences, University of Sydney , Susan Wakil Health Building, Western Ave, Camperdown NSW 2050 ,; 2. School of Biomedical Engineering, University of Sydney , Maze Crescent, Darlington NSW 2008 ,; 3. Department of Neurology, University of Utah , 175 Medical Dr N, Salt Lake City, UT 84132 ,; 4. RTW Charitable Foundation , 40 10th Avenue, Floor 3, New York, NY 10014 ,
Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene
作者Anushka Viswanathan; Serena Elia; Steven Q Le; Sarah Hurt; Balraj Doray; Jason Waligorski; Kylan Kelley; William Buchser; Patricia Dickson
作者单位1. College of Arts & Sciences, Washington University in St. Louis , 1 Brookings Drive St. St. Louis, MO 63130 ,; 2. Roy and Diana Vagelos Division of Biology & Biomedical Sciences, Washington University School of Medicine , 660 S. Euclid Ave, St. Louis, MO 63130 ,; 3. McDonnell Genome Institute, Washington University School of Medicine , 4444 Forest Park Ave, St. Louis, MO 63108 , United States; 4. Department of Pediatrics, Washington University School of Medicine , 660 S Euclid Ave, St. Louis, MO 63110 , United States; 5. Department of Veterinary Pathobiology, College of Veterinary Medicine and Bond Life Sciences Center, University of Missouri , 1500 Bouchelle Ave, Columbia, MO 65201 , United States; 6. Department of Genetics, Washington University School of Medicine , 4515 McKinley Ave, St. Louis, MO 63110 , United States
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