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of 14
pro vyhledávání: 'Lüllmann-Rauch, Renate'
Autor:
Stijn Stroobants, Paul Saftig, Renate Lüllmann-Rauch, Claes Andersson, Rudi D'Hooge, Meike Lüdemann, Jens Fogh, Willy Morelle, Judith Blanz, Helena Reuterwall, Jean Claude Michalski
Publikováno v:
Human Molecular Genetics. 17:3437-3445
Despite the progress in the treatment of lysosomal storage disorders (LSDs) mainly by enzyme replacement therapy, only limited success was reported in targeting the appropriate lysosomal enzyme into the brain. This prevents efficient clearance of neu
Autor:
Peter Heimann, Thomas Dierks, Markus Damme, Steven U. Walkley, Tomo Sawada, Theresa Ortkras, Björn Kowalewski, Renate Lüllmann-Rauch
Publikováno v:
Human molecular genetics. 24(7)
Deficiency of arylsulfatase G (ARSG) leads to a lysosomal storage disease in mice resembling biochemical and pathological features of the mucopolysaccharidoses and particularly features of mucopolysaccharidosis type III (Sanfilippo syndrome). Here we
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Autor:
Ulrich Matzner, Volkmar Gieselmann, Carsten Wessig, Renate Lüllmann-Rauch, Jens Fogh, Stephan Schröder, Carl Eistrup, Christer Möller, Eva Herbst, Kerstin Khalaj Hedayati
Publikováno v:
Human molecular genetics. 14(9)
A deficiency of arylsulfatase A (ASA) causes the lysosomal storage disease metachromatic leukodystrophy, which is characterized by accumulation of the sphingolipid 3-O-sulfogalactosylceramide (sulfatide). Sphingolipid storage results in progressive d
Autor:
Ole K. Tollersrud, Paul Saftig, Jianhe Peng, Claes Andersson, Renate Lüllmann-Rauch, Kurt von Figura, Diego Prieto Roces, Tommaso Beccari, Aldo Orlacchio, Chiara Balducci, Jens Fogh
Publikováno v:
Human molecular genetics. 13(18)
Alpha-mannosidosis is a lysosomal storage disorder which manifests itself in the excessive storage of mannose-containing oligosaccharides in the lysosomes of multiple peripheral tissues and in the brain. Here we report on the correction of storage in
Autor:
Yoshitaka Tanaka, Paul Saftig, Kurt von Figura, Alexander Christian Gamp, Anna Lena Illert, Hannes Maier, Renate Lüllmann-Rauch, Dieter Hartmann, Dorothee Wittke, Peter Paul De Deyn, Tobias Moser, Rudi D'Hooge, Karina Reiss
Publikováno v:
Human molecular genetics
In previous overexpression studies we revealed a role for the lysosomal membrane protein LIMP-2/LGP85 in lysosomal biogenesis. LIMP-2-deficient mice show an increased postnatal mortality which is associated with a development of a uni- or bilateral h
Autor:
Dieter Hartmann, Kurt von Figura, Aldo Orlacchio, Sofia Stinchi, Paul Saftig, Tommaso Beccari, Renate Lüllmann-Rauch, R. Coenen
Publikováno v:
Human molecular genetics. 8(8)
Alpha-mannosidosis is a lysosomal storage disease with autosomal recessive inheritance caused by a deficiency of the lysosomal alpha-mannosidase, which is involved in the degradation of asparagine-linked carbohydrate cores of glycoproteins. An alpha-
Autor:
Stinchi, Sofia, Lüllmann-Rauch, Renate, Hartmann, Dieter, Coenen, Ruth, Beccari, Tommaso, Orlacchio, Aldo, Figura, Kurt von, Saftig, Paul
Publikováno v:
Human Molecular Genetics; Aug99, Vol. 8 Issue 8, p1365, 8p, 15 Black and White Photographs, 8 Diagrams, 1 Chart, 4 Graphs
Autor:
Blanz, Judith, Stroobants, Stijn, Lüllmann-Rauch, Renate, Morelle, Willy, Lüdemann, Meike, D'Hooge, Rudi, Reuterwall, Helena, Michalski, Jean Claude, Fogh, Jens, Andersson, Claes, Saftig, Paul
Publikováno v:
Human Molecular Genetics; Nov2008, Vol. 17 Issue 22, p3437-3445, 9p
Autor:
Matzner, Ulrich, Herbst, Eva, Hedayati, Kerstin Khalaj, Lüllmann-Rauch, Renate, Wessig, Carsten, Schröder, Stephan, Eistrup, Carl, Möller, Christer, Fogh, Jens, Gieselmann, Volkmar
Publikováno v:
Human Molecular Genetics; May2005, Vol. 14 Issue 9, p1139-1152, 14p