Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene.

Autor: Jepsen, Wayne M.¹ (AUTHOR) wjepsen@tgen.org, Fazenbaker, Andrew² (AUTHOR), Ramsey, Keri¹ (AUTHOR), Bonfitto, Anna¹ (AUTHOR), Naymik, Marcus¹ (AUTHOR), Turner, Bryce¹ (AUTHOR), Sloan, Jennifer¹ (AUTHOR), Tiwari, Nishant² (AUTHOR), Bernes, Saunder M.² (AUTHOR), Neilson, Derek E.² (AUTHOR), Sanchez-Castillo, Meredith¹ (AUTHOR), Huentelman, Matt J.¹ (AUTHOR), Narayanan, Vinodh¹ (AUTHOR) vnarayanan@tgen.org

Publikováno v: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p11922. 11p.

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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Autor: Mattison, Kari A, Tossing, Gilles, Mulroe, Fred, Simmons, Callum, Butler, Kameryn M, Schreiber, Alison, Alsadah, Adnan, Neilson, Derek E, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Sorlin, Arthur, McCann, Emma, Burghel, George J, Menendez, Beatriz, Hoganson, George E, Botto, Lorenzo D, Filloux, Francis M, Aledo-Serrano, Angel, Gil-Nagel, Antonio, Tatton-Brown, Katrina, Verbeek, Nienke E, van der Zwaag, Bert, Aleck, Kyrieckos A, Fazenbaker, Andrew C, Balciuniene, Jorune, Dubbs, Holly A, Marsh, Eric D, Garber, Kathryn, Ek, Jakob, Duno, Morten, Hoei-Hansen, Christina E, Deardorff, Matthew A, Raca, Gordana, Quindipan, Catherine, Van Hirtum-Das, Michele, Breckpot, Jeroen, Hammer, Trine Bjorg, Moller, Rikke S, Whitney, Andrea, Douglas, Andrew GL, Kharbanda, Mira, Brunetti-Pierri, Nicola, Morleo, Manuela, Nigro, Vincenzo, May, Halie J, Tao, James X, Argilli, Emanuela, Sherr, Elliot H, Dobyns, William B, Baines, Richard A, Warwicker, Jim, Parker, J Alex, Banka, Siddharth, Campeau, Philippe M, Escayg, Andrew

The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking by several different types of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9a4eee76a2a844bcd93cebff471f97
https://lirias.kuleuven.be/handle/20.500.12942/707909

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Autor: Mattison KA; Genetics and Molecular Biology Graduate Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Emory University, Atlanta, GA, USA.; Department of Human Genetics, Emory University, Atlanta, GA, USA., Tossing G; Department of Neuroscience, University of Montreal, Montreal, QC, Canada., Mulroe F; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Simmons C; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Butler KM; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Greenwood Genetics Center, Greenwood, SC, USA., Schreiber A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Alsadah A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Neilson DE; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Naess K; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden., Wedell A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Deparment of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden., Wredenberg A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden., Sorlin A; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg., McCann E; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Burghel GJ; Genomic Diagnostic Laboratory, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Menendez B; UI Health, Chicago, IL, USA., Hoganson GE; Division of Genetics, Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL, USA., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Filloux FM; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Aledo-Serrano Á; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain., Gil-Nagel A; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain., Tatton-Brown K; Medical Genetics, St. George's University Hospitals NHS Foundation Trust and Institute for Molecular and Cell Sciences, St. George's, University of London, London, UK., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands., Aleck KA; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Fazenbaker AC; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Balciuniene J; Divison of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; PerkinElmer Genomics, Pittsburgh, PA, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Garber K; Department of Human Genetics, Emory University, Atlanta, GA, USA., Ek J; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Duno M; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Hoei-Hansen CE; Department of Pediatrics, University Hospital of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Raca G; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Quindipan C; Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA., van Hirtum-Das M; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark.; Insititue for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Whitney A; Pediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Douglas AGL; Wessex Clinical Genetics Service, University of Southampton, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Kharbanda M; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Tao JX; Department of Neurology, University of Chicago, Chicago, IL, USA., Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA., Baines RA; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Warwicker J; School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Institute of Biotechnology, University of Manchester, Manchester, UK., Parker JA; Department of Neuroscience, University of Montreal, Montreal, QC, Canada., Banka S; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., Escayg A; Department of Human Genetics, Emory University, Atlanta, GA, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Apr 19; Vol. 146 (4), pp. 1357-1372.