Results
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21.
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Defects in the retina of Niemann-pick type C 1 mutant mice. [electronic resource] by
- Yan, Xin
- Ma, Lucy
- Hovakimyan, Marina
- Lukas, Jan
- Wree, Andreas
- Frank, Marcus
- Guthoff, Rudolf
- Rolfs, Arndt
- Witt, Martin
- Luo, Jiankai
Producer: 20150708
In:
BMC neuroscience vol. 15
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22.
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Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease. [electronic resource] by
- Hovakimyan, Marine
- Petersen, Jana
- Maass, Fabian
- Reichard, Maria
- Witt, Martin
- Lukas, Jan
- Stachs, Oliver
- Guthoff, Rudolf
- Rolfs, Arndt
- Wree, Andreas
Producer: 20120720
In:
PloS one vol. 6
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23.
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Aberrant expressions of delta-protocadherins in the brain of Npc1 mutant mice. [electronic resource] by
- Yan, Xin
- Lukas, Jan
- Lin, Juntang
- Ernst, Mathias
- Koczan, Dirk
- Witt, Martin
- Fuellen, Georg
- Wree, Andreas
- Rolfs, Arndt
- Luo, Jiankai
Producer: 20150512
In:
Histology and histopathology vol. 29
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24.
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ADAM23 promotes neuronal differentiation of human neural progenitor cells. [electronic resource] by
- Markus-Koch, Annett
- Schmitt, Oliver
- Seemann, Susanne
- Lukas, Jan
- Koczan, Dirk
- Ernst, Mathias
- Fuellen, Georg
- Wree, Andreas
- Rolfs, Arndt
- Luo, Jiankai
Producer: 20171031
In:
Cellular & molecular biology letters vol. 22
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25.
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Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1. [electronic resource] by
- Hovakimyan, Marine
- Stachs, Oliver
- Reichard, Maria
- Mascher, Hermann
- Lukas, Jan
- Frech, Moritz Johannes
- Guthoff, Rudolf
- Witt, Martin
- Rolfs, Arndt
- Wree, Andreas
Producer: 20110928
In:
Cornea vol. 30
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26.
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HGSNAT has a TATA-less promoter with multiple starts of transcription. [electronic resource] by
- Richtrova, Eva
- Mrazova, Lenka S
- Musalkova, Dita
- Luksan, Ondrej
- Stolnaya, Larisa
- Minks, Jakub
- Lukas, Jan
- Dvorakova, Lenka
- Jirsa, Milan
- Hrebicek, Martin
Producer: 20170206
In:
Gene vol. 592
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27.
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Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A. [electronic resource] by
- Völkner, Christin
- Peter, Franziska
- Liedtke, Maik
- Krohn, Saskia
- Lindner, Iris
- Murua Escobar, Hugo
- Cimmaruta, Chiara
- Lukas, Jan
- Hermann, Andreas
- Frech, Moritz J
Producer: 20200701
In:
Stem cell research vol. 41
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28.
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Dazap2 modulates transcription driven by the Wnt effector TCF-4. [electronic resource] by
- Lukas, Jan
- Mazna, Petr
- Valenta, Tomas
- Doubravska, Lenka
- Pospichalova, Vendula
- Vojtechova, Martina
- Fafilek, Bohumil
- Ivanek, Robert
- Plachy, Jiri
- Novak, Jakub
- Korinek, Vladimir
Producer: 20090714
In:
Nucleic acids research vol. 37
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29.
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C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease. [electronic resource] by
- Cozma, Claudia
- Iurașcu, Marius-Ionuț
- Eichler, Sabrina
- Hovakimyan, Marina
- Brandau, Oliver
- Zielke, Susanne
- Böttcher, Tobias
- Giese, Anne-Katrin
- Lukas, Jan
- Rolfs, Arndt
Producer: 20190129
In:
Scientific reports vol. 7
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30.
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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease. [electronic resource] by
- Lukas, Jan
- Cimmaruta, Chiara
- Liguori, Ludovica
- Pantoom, Supansa
- Iwanov, Katharina
- Petters, Janine
- Hund, Christina
- Bunschkowski, Maik
- Hermann, Andreas
- Cubellis, Maria Vittoria
- Rolfs, Arndt
Producer: 20201113
In:
International journal of molecular sciences vol. 21
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31.
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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. [electronic resource] by
- Lukas, Jan
- Giese, Anne-Katrin
- Markoff, Arseni
- Grittner, Ulrike
- Kolodny, Ed
- Mascher, Hermann
- Lackner, Karl J
- Meyer, Wolfgang
- Wree, Phillip
- Saviouk, Viatcheslav
- Rolfs, Arndt
Producer: 20140321
In:
PLoS genetics vol. 9
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32.
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Enzyme enhancers for the treatment of Fabry and Pompe disease. [electronic resource] by
- Lukas, Jan
- Pockrandt, Anne-Marie
- Seemann, Susanne
- Sharif, Muhammad
- Runge, Franziska
- Pohlers, Susann
- Zheng, Chaonan
- Gläser, Anne
- Beller, Matthias
- Rolfs, Arndt
- Giese, Anne-Katrin
Producer: 20151116
In:
Molecular therapy : the journal of the American Society of Gene Therapy vol. 23
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33.
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Fatty acid modification of Wnt1 and Wnt3a at serine is prerequisite for lipidation at cysteine and is essential for Wnt signalling. [electronic resource] by
- Doubravska, Lenka
- Krausova, Michaela
- Gradl, Dietmar
- Vojtechova, Martina
- Tumova, Lucie
- Lukas, Jan
- Valenta, Tomas
- Pospichalova, Vendula
- Fafilek, Bohumil
- Plachy, Jiri
- Sebesta, Ondrej
- Korinek, Vladimir
Producer: 20110617
In:
Cellular signalling vol. 23
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34.
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Generation of two modified mouse alleles of the Hic1 tumor suppressor gene. [electronic resource] by
- Pospichalova, Vendula
- Tureckova, Jolana
- Fafilek, Bohumil
- Vojtechova, Martina
- Krausova, Michaela
- Lukas, Jan
- Sloncova, Eva
- Takacova, Sylvia
- Divoky, Vladimir
- Leprince, Dominique
- Plachy, Jiri
- Korinek, Vladimir
Producer: 20110712
In:
Genesis (New York, N.Y. : 2000) vol. 49
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35.
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Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease. [electronic resource] by
- Citro, Valentina
- Peña-García, Jorge
- den-Haan, Helena
- Pérez-Sánchez, Horacio
- Del Prete, Rosita
- Liguori, Ludovica
- Cimmaruta, Chiara
- Lukas, Jan
- Cubellis, Maria Vittoria
- Andreotti, Giuseppina
Producer: 20170623
In:
PloS one vol. 11
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36.
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Newborn screening for lysosomal storage disorders in hungary. [electronic resource] by
- Wittmann, Judit
- Karg, Eszter
- Turi, Sàndor
- Legnini, Elisa
- Wittmann, Gyula
- Giese, Anne-Katrin
- Lukas, Jan
- Gölnitz, Uta
- Klingenhäger, Michael
- Bodamer, Olaf
- Mühl, Adolf
- Rolfs, Arndt
Producer: 20130225
In:
JIMD reports vol. 6
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37.
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Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease. [electronic resource] by
- Petters, Janine
- Cimmaruta, Chiara
- Iwanov, Katharina
- Chang, Matthew L
- Völkner, Christin
- Knuebel, Gudrun
- Murua Escobar, Hugo
- Frech, Moritz J
- Hermann, Andreas
- Rolfs, Arndt
- Lukas, Jan
Producer: 20210121
In:
Stem cell research vol. 43
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38.
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Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease. [electronic resource] by
- Lukas, Jan
- Cozma, Claudia
- Yang, Fan
- Kramp, Guido
- Meyer, Anja
- Neßlauer, Anna-Maria
- Eichler, Sabrina
- Böttcher, Tobias
- Witt, Martin
- Bräuer, Anja U
- Kropp, Peter
- Rolfs, Arndt
Producer: 20180606
In:
International journal of molecular sciences vol. 18
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39.
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Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease. [electronic resource] by
- Lenders, Malte
- Neußer, Leon Paul
- Rudnicki, Michael
- Nordbeck, Peter
- Canaan-Kühl, Sima
- Nowak, Albina
- Cybulla, Markus
- Schmitz, Boris
- Lukas, Jan
- Wanner, Christoph
- Brand, Stefan-Martin
- Brand, Eva
Producer: 20190903
In:
Journal of the American Society of Nephrology : JASN vol. 29
Availability: No items available.
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40.
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A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. [electronic resource] by
- Giese, Anne-Katrin
- Mascher, Hermann
- Grittner, Ulrike
- Eichler, Sabrina
- Kramp, Guido
- Lukas, Jan
- te Vruchte, Danielle
- Al Eisa, Nada
- Cortina-Borja, Mario
- Porter, Forbes D
- Platt, Frances M
- Rolfs, Arndt
Producer: 20160229
In:
Orphanet journal of rare diseases vol. 10
Availability: No items available.
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