Search Results - "Moller, Birk"

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

“…Hedgehog (Hh) signaling and mTOR signaling, essential for embryonic development and cellular metabolism, are both coordinated by the primary cilium…”
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TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms by Rosengren, Thomas, Larsen, Lasse Jonsgaard, Pedersen, Lotte Bang, Christensen, Søren Tvorup, Møller, Lisbeth Birk

“…Primary cilia are sensory organelles that coordinate multiple cellular signaling pathways, including Hedgehog (HH), Wingless/Int (WNT) and Transforming Growth…”
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Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31 -Associated Retinitis Pigmentosa in a Danish Cohort by Lisbjerg, Kristian, Grønskov, Karen, Bertelsen, Mette, Møller, Lisbeth Birk, Kessel, Line

“…(1) Background/aims: To examine potential genetic modifiers of disease penetrance in -associated retinitis pigmentosa 11 (RP11). (2) Methods: Blood samples…”
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Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin by 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

“…Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from…”
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Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders by Skjørringe, Tina, Møller, Lisbeth Birk, Moos, Torben

“…Iron and copper are important co-factors for a number of enzymes in the brain, including enzymes involved in neurotransmitter synthesis and myelin formation…”
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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 by Møller, Lisbeth Birk, Mogensen, Mie, Weaver, David D, Pedersen, Per Amstrup

“…Disease-causing variants in lead to two different phenotypes associated with copper deficiency; a lethal form called Menkes disease (MD), leading to early…”
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Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10) by Ásbjörnsdóttir, Birna, Henriksen, Otto Mølby, Lindquist, Suzanne, Møller, Lisbeth Birk, Sidaros, Annette, Nielsen, Jørgen Erik

“…Biallelic pathogenic variants in the gene cause spinocerebellar ataxia recessive type 10. We report two patients, both compound heterozygous for variants,…”
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Splice site mutations in the ATP7A gene by Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk

“…Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic…”
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Crosstalk between BH4, pain, and dystonia by 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 by Horn, Nina, Møller, Lisbeth Birk, Nurchi, Valeria Marina, Aaseth, Jan

“…Dysregulation of copper homeostasis in humans is primarily found in two genetic diseases of copper transport, Menkes and Wilson diseases, which show symptoms…”
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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 by Poulsen, Lena, Søe, Martin Jensen, Snakenborg, Detlef, Møller, Lisbeth Birk, Dufva, Martin

“…Here, we describe a multi-parametric study of DNA hybridization to probes with 20-70% G + C content. Probes were designed towards 71 different sites/mutations…”
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Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency by Ostergaard, E., Moller, L. Birk, Kalkanoglu-Sivri, H. Serap, Dursun, A., Kibaek, M., Thelle, T., Christensen, E., Duno, M., Wibrand, F.

“…Summary The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to…”
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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 by Jonsgaard Larsen, Lasse, Birk Møller, Lisbeth

“…Disease causing variants in PINK1 lead to Parkinsońs disease (PD) with early age of onset and slow disease progression. Loss of mitochondrial function is a…”
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Crystal structure of a copper-transporting PIB-type ATPase by Gourdon, Pontus, Liu, Xiang-Yu, Skjørringe, Tina, Morth, J. Preben, Møller, Lisbeth Birk, Pedersen, Bjørn Panyella, Nissen, Poul

“…Heavy-metal homeostasis and detoxification is crucial for cell viability. P-type ATPases of the class IB (PIB) are essential in these processes, actively…”
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mTORC1 hampers Hedgehog signaling in Tsc2 deficient cells by Larsen, Lasse Jonsgaard, Østergaard, Elsebet, Møller, Lisbeth Birk

“…The mTORC1-complex is negatively regulated by TSC1 and TSC2. Activation of Hedgehog signaling is strictly dependent on communication between Smoothened and the…”
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Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease by Skjørringe, Tina, Amstrup Pedersen, Per, Salling Thorborg, Sidsel, Nissen, Poul, Gourdon, Pontus, Birk Møller, Lisbeth

“…Menkes disease (MD) is caused by mutations in ATP7A , encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking. ATP7A is found…”
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Normalization of Fetal Cerebral and Hepatic Iron by Parental Iron Therapy to Pregnant Rats with Systemic Iron Deficiency without Anemia by Burkhart, Annette, Johnsen, Kasper Bendix, Skjørringe, Tina, Nielsen, Asbjørn Haaning, Routhe, Lisa Juul, Hertz, Sandra, Møller, Lisbeth Birk, Thomsen, Lars Lykke, Moos, Torben

“…Iron (Fe) is a co-factor for enzymes of the developing brain necessitating sufficient supply. We investigated the effects of administering ferric…”
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Small amounts of functional ATP7A protein permit mild phenotype by Møller, Lisbeth Birk

“…Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy. These disorders…”
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Molecular diagnosis of Menkes disease: Genotype–phenotype correlation by Møller, Lisbeth Birk, Mogensen, Mie, Horn, Nina

“…Menkes syndrome is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene, encoding a copper-transporting…”
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Structural models of the human copper P-type ATPases ATP7A and ATP7B by Gourdon, Pontus, Sitsel, Oleg, Lykkegaard Karlsen, Jesper, Birk Møller, Lisbeth, Nissen, Poul

“…The human copper exporters ATP7A and ATP7B contain domains common to all P-type ATPases as well as class-specific features such as six sequential heavy-metal…”
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