Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Autor: Peter Lohse, Sylke Maas, Pia Lohse, Milan Elleder, Jean M. Kirk, Guy T.N. Besley, Dietrich Seidel

Publikováno v: Journal of Lipid Research, Vol 41, Iss 1, Pp 23-31 (2000)

Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding human lysosomal acid lipase. Thus far we have elucidated the genetic defects in 15 unrelated C

Externí odkaz: https://doaj.org/article/13635d10309c402c9c25a859563abebb

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics

Autor: Hana Vlaskova, Jakub Sikora, Filip Majer, Tomas Honzik, Martin Masek, Milan Elleder, Ondrej Pelak, Petr Kuchynka, Jiri Zeman, Tomáš Paleček, Tomas Kalina, Lenka Dvorakova

Publikováno v: Journal of Inherited Metabolic Disease. 37:117-124

Alu-mediated tandem duplication of exons 4 and 5 (g.15815_22218dup6404) is a novel mutation that has been detected in the LAMP2 gene (Xq24). This exon copy number variation was found in two brothers with the typical phenotype of Danon disease, includ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c812ff0a9b35d88436ad4c8c71aaf9e
https://doi.org/10.1007/s10545-013-9617-z

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Autor: John F. Staropoli, Hana Hartmannová, Anna Přistoupilová, Viktor Stránecký, Julie van der Zee, Veronika Baresova, Helena Jahnová, Sara E. Mole, Stanislav Kmoch, Lenka Nosková, Peter C G Nijssen, Christine Van Broeckhoven, Helena Hůlková, Robert Ivanek, Katherine B. Sims, Milan Elleder, Jaana Tyynelä

Publikováno v: The American journal of human genetics

Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and neurodegeneration and has an age of onset in the third decade of life or later. The geneti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a25f2812702a85bae902877908339c63
https://doi.org/10.1016/j.ajhg.2011.07.003

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment

Autor: Katherine H. Overdier, Gary Brodsky, Milan Elleder, Rima Rozen, Kenneth N. Maclean, Viktor Kožich, Linda S. Crnic, Lori S. Greiner, Hua Jiang, Lynne Meltesen, Renata Collard, Jakub Krijt, Jakub Sikora, David Patterson, Sally P. Stabler, Robert H. Allen, Eva Kraus, Jan P. Kraus

Publikováno v: Molecular Genetics and Metabolism

Cystathionine beta-synthase (CBS) catalyzes the condensation of homocysteine (Hcy) and serine to cystathionine, which is then hydrolyzed to cysteine by cystathionine gamma-lyase. Inactivation of CBS results in CBS-deficient homocystinuria more common

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfa311a214521f5b818ba15f40c7edef

More on Clinical Renal Genetics

Autor: Joost P. H. Drenth, Pierre Ronco, Marie Hubalek Kalbacova, N. Lee, Hiroyasu Tsukaguchi, Stanislav Kmoch, H. Blazkova, Jakub Sikora, Kathleen Claes, Marie Matignon, L. van Keimpema, Z. Chen, Audrey Pawtowski, Jean-Pierre Grünfeld, C. Prost, K. Hodanova, Maud Clemessy, Daniel J. Becker, Emmanuelle Plaisier, J. Zivny, Joel M. Henderson, Johannes Schlondorff, J. Adams, S. Lin, Milan Elleder, P. Favrole, W. Hwu, T. Van Agrmael, S. Chiang, T. Kitagawa, Martin R. Pollak, Philippe Grimbert, Jean Marie Gasc, M. Zivna, Frederik Nevens, H. Hulkova, G. Van Oijen, H. Yeh, M. Chao, Jana Sovová, R. Desnick, Corinne Antignac, Béatrice Marro, R. de Man, L. Hsu, Helena M. Dekker, Katja Kapp, Jean Pierre Fryns, S. Alamovitch, Elizabeth J. Brown, Henry N. Higgs, Evelyne Lerut, Marie-Claire Gubler, Veronika Baresova, Anthony J. Bleyer, Y. Chien, V. Stranecky, A. Uschinski, Ragna Vanslembrouck, A. Huang, P. t Hart, Aswin L. Hoffmann, Petr Vylet'al, Robert Ivanek, R. Dobrovolny, Thomas C. Hart

Publikováno v: Clinical Journal of the American Society of Nephrology, 5, 4, pp. 563-7
Clinical Journal of the American Society of Nephrology, 5, 563-7
Clinical Journal of the American Society of Nephrology, 5, 563-567. American Society of Nephrology

Epidemiologic studies of rare diseases may produce surprising findings and raise ethical issues. This is illustrated in this study performed in 171,977 consecutive Taiwanese newborns (including 90,288 boys) from July 2006 through June 2008 by measuri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0bc281e2aab1243b59dc4a8f6e25c2
https://doi.org/10.2215/cjn.01720210