Zobrazeno 1 - 10
of 191
pro vyhledávání: '"Per M Knappskog"'
Autor:
Bergithe Eikeland Oftedal, Amund Holte Berger, Øyvind Bruserud, Yael Goldfarb, Andre Sulen, Lars Breivik, Alexander Hellesen, Shifra Ben-Dor, Rebecca Haffner-Krausz, Per M. Knappskog, Stefan Johansson, Anette S.B. Wolff, Eirik Bratland, Jakub Abramson, Eystein Sverre Husebye
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 21 (2023)
Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early childhood, but the clinica
Externí odkaz:
https://doaj.org/article/1f5abd2401f14954b6c6cb6304847188
Autor:
Yasaman Pakdaman, Elsa Denker, Eirik Austad, William H. J. Norton, Hans O. Rolfsnes, Laurence A. Bindoff, Charalampos Tzoulis, Ingvild Aukrust, Per M. Knappskog, Stefan Johansson, Ståle Ellingsen
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
The ubiquitin ligase CHIP (C-terminus of Hsc70-interacting protein) is encoded by STUB1 and promotes ubiquitination of misfolded and damaged proteins. CHIP deficiency has been linked to several diseases, and mutations in the human STUB1 gene are asso
Externí odkaz:
https://doaj.org/article/f12cb49d57274e40a709da144728f948
Autor:
Dario Brunetti, Janniche Torsvik, Cristina Dallabona, Pedro Teixeira, Pawel Sztromwasser, Erika Fernandez‐Vizarra, Raffaele Cerutti, Aurelio Reyes, Carmela Preziuso, Giulia D'Amati, Enrico Baruffini, Paola Goffrini, Carlo Viscomi, Ileana Ferrero, Helge Boman, Wenche Telstad, Stefan Johansson, Elzbieta Glaser, Per M Knappskog, Massimo Zeviani, Laurence A Bindoff
Publikováno v:
EMBO Molecular Medicine, Vol 8, Iss 3, Pp 176-190 (2015)
Abstract Mitochondrial dysfunction and altered proteostasis are central features of neurodegenerative diseases. The pitrilysin metallopeptidase 1 (PITRM1) is a mitochondrial matrix enzyme, which digests oligopeptides, including the mitochondrial targ
Externí odkaz:
https://doaj.org/article/9e38dde157b64f9cb256e35e44049577
Autor:
Peter Taule-Sivertsen, Per M. Knappskog, Ove Bruland, Eirik Bratland, Morten Lund-Johansen, Aril Løge Håvik
Publikováno v:
Journal of Neuro-Oncology
Introduction Vestibular schwannoma (VS) is a benign intracranial tumor in which the underlying genetics is largely uncertain, apart from mutations in the tumor suppressor gene NF2. Alternative tumorigenic mechanisms have been proposed, including a re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42403c1bad4c04c7e3845332b855b293
https://doi.org/10.1007/s11060-021-03796-6
https://doi.org/10.1007/s11060-021-03796-6
Autor:
Irene Flønes, Paweł Sztromwasser, Kristoffer Haugarvoll, Christian Dölle, Maria Lykouri, Thomas Schwarzlmüller, Inge Jonassen, Hrvoje Miletic, Stefan Johansson, Per M Knappskog, Laurence A Bindoff, Charalampos Tzoulis
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0149055 (2016)
BACKGROUND:Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease is inherited in an autosomal recessive manner, patients with typical phenotypes
Externí odkaz:
https://doaj.org/article/0ef1996f6cfb4d6ea9a8c8c3034ff27d
Autor:
Dinka Smajlagic, Ksenia Lavrichenko, Pål R. Njølstad, Gun Peggy Knudsen, Siren Berland, Marc Vaudel, Stefan Johansson, Per M. Knappskog, Øyvind Helgeland, Jan Haavik, Gunnar Houge
Publikováno v:
European Journal of Human Genetics
Recurrent copy number variations (CNVs) are common causes of neurodevelopmental disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at defined genomic regions that are particularly prone to recurrent deletions and dup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8eb5e6f50d334b6661654aa946ad2b
https://doi.org/10.1038/s41431-020-00707-7
https://doi.org/10.1038/s41431-020-00707-7
Autor:
Tetyana Zayats, Lavinia Athanasiu, Ida Sonderby, Srdjan Djurovic, Lars T Westlye, Christian K Tamnes, Tormod Fladby, Heidi Aase, Pål Zeiner, Ted Reichborn-Kjennerud, Per M Knappskog, Gun Peggy Knudsen, Ole A Andreassen, Stefan Johansson, Jan Haavik
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0122501 (2015)
BACKGROUND:Attention deficit hyperactivity disorder (ADHD) is a highly heritable neuropsychiatric condition, but it has been difficult to identify genes underlying this disorder. This study aimed to explore genetics of ADHD in an ethnically homogeneo
Externí odkaz:
https://doaj.org/article/ae04d8395476480ea800860e00963e47
Autor:
Adrienne Sexton, Stefan Johansson, Bryony A. Thompson, Yasaman Pakdaman, Siren Berland, Sigrid Erdal, Ståle Ellingsen, Helene J. Bustad, Ingvild Aukrust, Paul A. James, Laurence A. Bindoff, Martin Krooni, Per M. Knappskog, Line Iden Berge, Kjersti Nesheim Power
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 5870, p 5870 (2021)
Volume 22
Issue 11
International Journal of Molecular Sciences, Vol 22, Iss 5870, p 5870 (2021)
Volume 22
Issue 11
Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar cognitive affective syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efbdcbb9d135566e1267a2e9e1c93650
https://hdl.handle.net/11250/2767461
https://hdl.handle.net/11250/2767461
Autor:
Sophie Bensing, Anette S. B. Wolff, Magnus Isaksson, Marianne Øksnes, David Dolan, Katerina Simunkova, Martha Schei Hynne, Siri Carlsen, Eystein S. Husebye, Kristian Løvås, Åse Bjorvatn Sævik, Sigridur Björnsdottir, Per M. Knappskog, Eirik Bratland, Paal Methlie, Olle Kämpe
Publikováno v:
bvaa202
Journal of the Endocrine Society (JES)
Journal of the Endocrine Society
Journal of the Endocrine Society (JES)
Journal of the Endocrine Society
Background No reliable biomarkers exist to guide glucocorticoid (GC) replacement treatment in autoimmune Addison’s disease (AAD), leading to overtreatment with alarming and persistent side effects or undertreatment, which could be fatal. Objective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b1c58a4b65011a3d35f2f619ce16e4d
https://hdl.handle.net/11250/2837745
https://hdl.handle.net/11250/2837745
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e71445 (2013)
The CDH13 gene codes for T-cadherin, a GPI-anchored protein with cell adhesion properties that is highly expressed in the brain and cardiovascular system. Previous studies have suggested that CDH13 may be a promising candidate gene for Attention Defi
Externí odkaz:
https://doaj.org/article/c22b76dab3af424a8b474861b84d7b5c