Crystal structure of a copper-transporting PIB-type ATPase von Gourdon, Pontus, Liu, Xiang-Yu, Skjørringe, Tina, Morth, J. Preben, Møller, Lisbeth Birk, Pedersen, Bjørn Panyella, Nissen, Poul

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Generation of induced pluripotent stem cells, KCi004-A derived from a male with Parkinsońs disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456 von Jonsgaard Larsen, Lasse, Birk Møller, Lisbeth

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Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease von Skjørringe, Tina, Amstrup Pedersen, Per, Salling Thorborg, Sidsel, Nissen, Poul, Gourdon, Pontus, Birk Møller, Lisbeth

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Normalization of Fetal Cerebral and Hepatic Iron by Parental Iron Therapy to Pregnant Rats with Systemic Iron Deficiency without Anemia von Burkhart, Annette, Johnsen, Kasper Bendix, Skjørringe, Tina, Nielsen, Asbjørn Haaning, Routhe, Lisa Juul, Hertz, Sandra, Møller, Lisbeth Birk, Thomsen, Lars Lykke, Moos, Torben

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Structural models of the human copper P-type ATPases ATP7A and ATP7B von Gourdon, Pontus, Sitsel, Oleg, Karlsen, Jesper Lykkegaard, Møller, Lisbeth Birk, Nissen, Poul

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BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells von Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Tumer, Zeynep, Brondum-Nielsen, Karen, Gronskov, Karen, Hjortshoj, Tina Duelund, Moller, Lisbeth Birk

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Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome von Hildonen, Mathis, Levy, Amanda M., Dahl, Christina, Bjerregaard, Victoria A., Birk Moller, Lisbeth, Guldberg, Per, Debes, Nanette M., Tumer, Zeynep

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Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years von Kirk, Frederik Teicher, Munk, Ditte Emilie, Ek, Jakob, Birk Møller, Lisbeth, Bendixen Thorup, Mette, Hvid Danielsen, Erik, Vilstrup, Hendrik, Ott, Peter, Damgaard Sandahl, Thomas

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Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant von Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

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Usher syndrome in Denmark: mutation spectrum and some clinical observations von Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjærg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne‐Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth Birk

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Mottled Mice and Non-Mammalian Models of Menkes Disease von Lenartowicz, Małgorzata, Krzeptowski, Wojciech, Lipiński, Paweł, Grzmil, Paweł, Starzyński, Rafał, Pierzchała, Olga, Møller, Lisbeth Birk

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Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase von Huppke, Peter, Brendel, Cornelia, Korenke, Georg Christoph, Marquardt, Iris, Donsante, Anthony, Yi, Ling, Hicks, Julia D., Steinbach, Peter J., Wilson, Callum, Elpeleg, Orly, Møller, Lisbeth Birk, Christodoulou, John, Kaler, Stephen G., Gärtner, Jutta

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Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC) von Lenartowicz, Małgorzata, Krzeptowski, Wojciech, Koteja, Paweł, Chrząścik, Katarzyna, Møller, Lisbeth Birk

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Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT von Hey, Caroline Amalie Brunbjerg, Saltõkowa, Katarina Beata, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

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Crosstalk of Hedgehog and mTORC1 Pathways von Larsen, Lasse Jonsgaard, Moller, Lisbeth Birk

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Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C von Hey, Caroline Amalie Brunbjerg, Saltõkowa, Katarina Beata, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy von Jespersgaard, Cathrine, Fang, Mingyan, Bertelsen, Mette, Dang, Xiao, Jensen, Hanne, Chen, Yulan, Bech, Niels, Dai, Lanlan, Rosenberg, Thomas, Zhang, Jianguo, Møller, Lisbeth Birk, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen

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TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms von Rosengren, Thomas, Larsen, Lasse Jonsgaard, Pedersen, Lotte Bang, Christensen, Søren Tvorup, Møller, Lisbeth Birk

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Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays von Poulsen, Lena, Søe, Martin Jensen, Møller, Lisbeth Birk, Dufva, Martin

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Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin von Huppke, Peter, Brendel, Cornelia, Kalscheuer, Vera, Korenke, Georg Christoph, Marquardt, Iris, Freisinger, Peter, Christodoulou, John, Hillebrand, Merle, Pitelet, Gaele, Wilson, Callum, Gruber-Sedlmayr, Ursula, Ullmann, Reinhard, Haas, Stefan, Elpeleg, Orly, Nürnberg, Gudrun, Nürnberg, Peter, Dad, Shzeena, Møller, Lisbeth Birk, Kaler, Stephen G., Gärtner, Jutta

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