A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

Autor: Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber

Publikováno v: JIMD Reports, Vol 50, Iss 1, Pp 31-39 (2019)

Abstract Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurologic

Externí odkaz: https://doaj.org/article/15fb8b1950804d25a28949915fc0f2f3

Structure and function of nucleotide sugar transporters: Current progress

Autor: Barbara Hadley, Andrea Maggioni, Angel Ashikov, Christopher J. Day, Thomas Haselhorst, Joe Tiralongo

Publikováno v: Computational and Structural Biotechnology Journal, Vol 10, Iss 16, Pp 23-32 (2014)

The proteomes of eukaryotes, bacteria and archaea are highly diverse due, in part, to the complex post-translational modification of protein glycosylation. The diversity of glycosylation in eukaryotes is reliant on nucleotide sugar transporters to tr

Externí odkaz: https://doaj.org/article/707f2373f3b04b088a5091150e1c94bc

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Autor: Rita Barone, Filippo Vairo, Bobby G. Ng, Jaak Jaeken, Gert Matthijs, James Pitt, Thierry Dupré, Lyndon Gallacher, Liesbeth Keldermans, Helen Michelakakis, Marina Ventouratou, Susan M. White, Sze Chern Lim, Melissa Baerenfaenger, Mirian C. H. Janssen, Angel Ashikov, Karin Huijben, Sandrine Vuillaumier-Barrot, Diana Ballhausen, Daisy Rymen, Agustí Rodríguez-Palmero, Blai Morales-Romero, Antonia Ribes, Peter Witters, Heidi Peters, Erika Souche, Eva Morava, Agata Fiumara, Pascale de Lonlay, Matthew P. Wilson, Dirk Lefeber, Wasantha Ranatunga, Alejandro Garanto, Hudson H. Freeze, Christian Thiel

Publikováno v: American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
The American Journal of Human Genetics
Wilson, M P, Garanto, A, Pinto e Vairo, F, Ng, B G, Ranatunga, W K, Ventouratou, M, Baerenfaenger, M, Huijben, K, Thiel, C, Ashikov, A, Keldermans, L, Souche, E, Vuillaumier-Barrot, S, Dupré, T, Michelakakis, H, Fiumara, A, Pitt, J, White, S M, Lim, S C, Gallacher, L, Peters, H, Rymen, D, Witters, P, Ribes, A, Morales-Romero, B, Rodríguez-Palmero, A, Ballhausen, D, de Lonlay, P, Barone, R, Janssen, M C H, Jaeken, J, Freeze, H H, Matthijs, G, Morava, E & Lefeber, D J 2021, ' Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings ', American Journal of Human Genetics, vol. 108, no. 11, pp. 2130-2144 . https://doi.org/10.1016/j.ajhg.2021.09.012
American Journal of Human Genetics, 108(11), 2130-2144. Cell Press
American Journal of Human Genetics, 108, 11, pp. 2130-2144
American Journal of Human Genetics, 108, 2130-2144
Am J Hum Genet

Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by hypoglycosylation. We here report the identification of 16 individuals from nine families who have either inherited or de novo heterozygous missense variants

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f124a26c20753d3232c900ffc2a8a140
https://research.vu.nl/en/publications/1bed4f1e-f652-4ed4-a577-46c9142faa56

Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Autor: Elzbieta Czarnowska, Magda Cannata Serio, Pavel Pichurin, Sharita Timal, Jos C. Jansen, Hannu Kalimo, Adriaan G. Holleboom, Can Ficicioglu, Margret Ryan, Johan W. Jonker, Richard J. Rodenburg, Linda Hasadsri, Angel Ashikov, Christian Gilissen, Miao He, W. Alfredo Ríos-Ocampo, Matias Simons, Lars E. Larsen, Dirk Lefeber, Berge A. Minassian, Alessandra Rugierri, Joris A. Veltman, Tom H. Stevens, Gwenn Le Meur, Eva Morava, Piotr Socha, Kimiyo Raymond, Laurie A. Graham

Publikováno v: Hepatology (Baltimore, Md.)
Hepatology (Baltimore, Md.), 72(6), 1968-1986. John Wiley and Sons Ltd
Hepatology, 72, 6, pp. 1968-1986
Hepatology, 72(6), 1968-1986. Wiley
Hepatology, 72, 1968-1986
Hepatology

Background and Aims Vacuolar H+-ATP complex (V-ATPase) is a multisubunit protein complex required for acidification of intracellular compartments. At least five different factors are known to be essential for its assembly in the endoplasmic reticulum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db692db53432f9043d5a54c01ef20dcb
https://hdl.handle.net/2066/230139

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Autor: Olga Fjodorova, Natalia H. Revelo, Eveline C F Gerretsen, Richard Arts, Kimiyo Raymond, Fokje Zijlstra, Martin ter Beest, Karin Huijben, Rinse de Boer, Angel Ashikov, Katrin Õunap, Mari-Anne Vals, Kai Muru, Geert van den Bogaart, Melissa Baerenfaenger, Peter T. A. Linders, Dirk Lefeber, Sander Pajusalu

Publikováno v: Nature Communications, 12
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications, 12, 1
Nature Communications, 12(1):6227. Nature Publishing Group

The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, the STX5 mRNA encodes two protein isoforms, Stx5 Long (Stx5L) from the first starting methionine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37a224e59f6199469bd35cf1f6d3b7e5
http://hdl.handle.net/2066/239969