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

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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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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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Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31 -Associated Retinitis Pigmentosa in a Danish Cohort von Lisbjerg, Kristian, Grønskov, Karen, Bertelsen, Mette, Møller, Lisbeth Birk, Kessel, Line

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Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders von Skjørringe, Tina, Møller, Lisbeth Birk, Moos, Torben

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Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A . No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15 von Møller, Lisbeth Birk, Mogensen, Mie, Weaver, David D, Pedersen, Per Amstrup

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Crosstalk between BH4, pain, and dystonia von Møller, Lisbeth Birk

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Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time von Horn, Nina, Møller, Lisbeth Birk, Nurchi, Valeria Marina, Aaseth, Jan

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Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10) von Ásbjörnsdóttir, Birna, Henriksen, Otto Mølby, Lindquist, Suzanne, Møller, Lisbeth Birk, Sidaros, Annette, Nielsen, Jørgen Erik

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Splice site mutations in the ATP7A gene von Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk

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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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Multi-stringency wash of partially hybridized 60-mer probes reveals that the stringency along the probe decreases with distance from the microarray surface von Poulsen, Lena, Søe, Martin Jensen, Snakenborg, Detlef, Møller, Lisbeth Birk, Dufva, Martin

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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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mTORC1 hampers Hedgehog signaling in Tsc2 deficient cells von Larsen, Lasse Jonsgaard, Østergaard, Elsebet, Møller, Lisbeth Birk

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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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Small amounts of functional ATP7A protein permit mild phenotype von Møller, Lisbeth Birk

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Molecular diagnosis of Menkes disease: Genotype–phenotype correlation von Møller, Lisbeth Birk, Mogensen, Mie, Horn, Nina

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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, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

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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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