A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

Autor: Flannery, Kyle P., Safwat, Sylvia, Matsell, Eli, Battula, Namarata, Hamed, Ahlam A. A., Mohamed, Inaam N., Elseed, Maha A., Koko, Mahmoud, Abubaker, Rayan, Abozar, Fatima, Elsayed, Liena E. O., Bhise, Vikram, Molday, Robert S., Salih, Mustafa A., Yahia, Ashraf, Manzini, M. Chiara

Publikováno v: Neurogenetics; Oct2024, Vol. 25 Issue 4, p425-433, 9p

Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.

Autor: Karas, Brittany F, Terez, Kristin R, Mowla, Shorbon, Battula, Namarata, Flannery, Kyle P, Gural, Brian M, Aboussleman, Grace, Mubin, Numa, Manzini, M Chiara

Publikováno v: Human Molecular Genetics; 4/15/2024, Vol. 33 Issue 8, p709-723, 15p

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2 -related disorders caused by missense changes.

Autor: Flannery KP; Department of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901., Safwat S; Department of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Matsell E; Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, B.C., Canada., Battula N; Department of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901., Hamed AAA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Mohamed IN; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elseed MA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Koko M; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Abubaker R; Sudanese Neurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Abozar F; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elsayed LEO; Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, P.O.Box 84428, Riyadh 11671, Saudi Arabia., Bhise V; Department of Pediatrics and Neurology, Rutgers - Robert Wood Johnson Medical School, New Brunswick, NJ, USA., Molday RS; Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, B.C., Canada., Salih MA; Consultant Pediatric Neurologist, Health Sector, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia., Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet and Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden.; Astrid Lindgren Children's Hospital, Karolinska University Hospital, Solna, Sweden., Manzini MC; Department of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 15. Date of Electronic Publication: 2024 May 15.