Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases

Autor: Befekadu Asfaw, Jana Ledvinová, Robert Dobrovolńy, Henk D. Bakker, Robert J. Desnick, Otto P. van Diggelen, Jan G.N. de Jong, Tamotsu Kanzaki, Amparo Chabas, Irene Maire, Ernst Conzelmann, Detlev Schindler

Publikováno v: Journal of Lipid Research, Vol 43, Iss 7, Pp 1096-1104 (2002)

Skin fibroblast cultures from patients with inherited lysosomal enzymopathies, α-N-acetylgalactosaminidase (α-NAGA) and α-galactosidase A deficiencies (Schindler and Fabry disease, respectively), and from normal controls were used to study in situ

Externí odkaz: https://doaj.org/article/c40bae8d87c041ce92093cd2ec7ac868

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives

Autor: Arnold J. J. Reuser, Adolf Mühl, Kate Zhang, Petra Olivova, Dominique P. Germain, Deeksha Bali, Otto P. van Diggelen, Zoltan Lukacs, Birgit Wuyts, Monique Piraud, Frans W. Verheijen, Joan Keutzer, Wuh-Liang Hwu

Publikováno v: Molecular Genetics and Metabolism, 104(1-2), 144-148. Academic Press

Dried blood spot (DBS) methods are currently available for identification of a range of lysosomal storage disorders (LSDs). These disorders are generally characterized by a deficiency of activity of a lysosomal enzyme and by a broad spectrum of pheno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20b7e12b98f6baa2271e5703b8c0ffff
https://doi.org/10.1016/j.ymgme.2011.07.014

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

Autor: James E. Wraith, Lenka Mrázová, Helen Michelakakis, Rachel Laframboise, Otto P. van Diggelen, Stanislav Kmoch, Matthew Feldhammer, Alexey V. Pshezhetsky, Stéphanie Durand, Robert Steinfeld, Martin Hřebíček, Renee Myriam Boucher

Publikováno v: Human Mutation, 30(6), 918-925. Wiley-Liss Inc.

Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N,acetyltransferase (HGSNAT;

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11e8f08e06bbb7d0c41fa05920a830c5
https://doi.org/10.1002/humu.20986

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue

Autor: Otto P. van Diggelen, Sandra Pohl, Alfried Kohlschütter, Hannah M. Mitchison, Stephan Storch, Thomas Braulke

Publikováno v: Journal of Neurochemistry. 103:2177-2188

Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a neurodegenerative disorder caused by defective function of the lysosomal membrane glycoprotein CLN3. The activity of the lysosomal acid phosphatase (LAP/ACP2) was found to be significantly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b82a45cf06d26d4cf4e3a942be41a4
https://doi.org/10.1111/j.1471-4159.2007.04920.x

Null mutations and lethal congenital form of glycogen storage disease type IV

Autor: Stefania Assereto, Margarida Maria Videira Henriques, Jildau Dilling, Isabel M. Carreira, Olinda Rebelo, Paula Garcia, Carlo Minetti, Eva Morava, Denise Cassandrini, Willem P. de Boode, Henk J. ter Laak, Luísa Diogo, Otto P. van Diggelen, Claudio Bruno

Publikováno v: Biochemical & Biophysical Research Communications, 361(2), 445-450. Academic Press
Biochemical and Biophysical Research Communications, 361, 2, pp. 445-50
Biochemical and Biophysical Research Communications, 361, 445-50

Contains fulltext : 51443.pdf (Publisher’s version ) (Closed access) Glycogen branching enzyme deficiency (glycogen storage disease type IV, GSD-IV) is a rare autosomal recessive disorder of the glycogen synthesis with high mortality. Two female ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9538fec0a8274be02a2386f4c97d411d
https://hdl.handle.net/1765/35198