ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Autor: Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)

Here, Dirk Lefeber and colleagues identify functional mutations in ATP6AP1 encoding Ac45. The authors show that Ac45 is the functional ortholog of yeast V-ATPase assembly factor Voa1 and provide evidence for tissue-specific Ac45 processing, associate

Externí odkaz: https://doaj.org/article/afaab16f854a454bb591193eef588aa6

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Autor: Justyna Paprocka, Eva Morava, Lambert P. van den Heuvel, Ron A. Wevers, Christian Thiel, Maciej Adamowicz, Ewa Jamroz, Joris A. Veltman, Richard J. Rodenburg, Sharitakoemari Timal, Christian Gilissen, Francjan J. van Spronsen, Karin Huijben, Jolanta Sykut-Cegielska, Ilse Eidhof, Ludwig Lehle, Alexander Hoischen, Christian Körner, Dirk Lefeber

Publikováno v: Human Molecular Genetics, 21, 19, pp. 4151-61
Human Molecular Genetics, 21, 4151-61
Human Molecular Genetics, 21(19), 4151-4161. Oxford University Press

Item does not contain fulltext Congenital disorders of glycosylation type I (CDG-I) form a growing group of recessive neurometabolic diseases. Identification of disease genes is compromised by the enormous heterogeneity in clinical symptoms and the l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9da8dfe4b5f3208627f62c6929d6deb
https://hdl.handle.net/2066/107982

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS

Autor: Jaak Jaeken, Paz Briones, Domenico Garozzo, Maciej Adamowicz, Angelo Palmigiano, Rita Barone, Célestin Nsibu Ndosimao, Luisa Sturiale

Publikováno v: Proteomics (Weinh., Print) 8 (2008): 3822–3832. doi:10.1002/pmic.200700496
info:cnr-pdr/source/autori:L.Sturiale, R.Barone, A.Palmigiano, C.N.Ndosimao, P.Briones, M.Adamowicz, J.Jaeken, D.Garozzo/titolo:Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS/doi:10.1002%2Fpmic.200700496/rivista:Proteomics (Weinh., Print)/anno:2008/pagina_da:3822/pagina_a:3832/intervallo_pagine:3822–3832/volume:8

This study applied yolk immunoglobulins immunoaffinity separation and MALDI-TOF MS for clinical proteomics of congenital disorders of glycosylation (CDG) and secondary glycosylation disorders [galactosemia and hereditary fructose intolerance (HFI)].

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46ef3155d400f067f517db46d9fd3968
https://doi.org/10.1002/pmic.200700496

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

Autor: Ewa Pronicka, Maciej Adamowicz, Liesbeth Keldermans, Felix Sánchez-Valverde, Ron A. Wevers, A Chabás, Gert Matthijs, Els Schollen, Paz Briones, François Foulquier

Publikováno v: Molecular Genetics and Metabolism, 90, 408-13
Molecular Genetics and Metabolism, 90, 4, pp. 408-13

Contains fulltext : 53272.pdf (Publisher’s version ) (Closed access) Congenital disorders of glycosylation type Ia (CDG-Ia) is a recessive metabolic disorder caused by mutations in the PMM2 gene and characterized by a defect in the synthesis of N-g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec45e582e550bd641be4656031333d73
https://hdl.handle.net/2066/53272

Multiple phenotypes in phosphoglucomutase 1 deficiency

Autor: Sharita Timal, Bobby G. Ng, Jaak Jaeken, Elżbieta Czarnowska, Emile Van Schaftingen, Anika Witten, Patricie Burda, Tanya Stojkovic, Thorsten Marquardt, Vandana Sharma, Joris A. Veltman, Ron A. Wevers, Ralph Fingerhut, Olivier Aumaître, Daisy Rymen, Gert Matthijs, Mie Ichikawa, Reuben Matalon, Stephan Rust, Pietro Vajro, François Petit, Teodor Podskarbi, Monique van Scherpenzeel, Piotr Socha, Martin Lammens, Soraya Seyyedi, Dieter Vanderschaeghe, Esther Schrapers, Yoon S. Shin, Janine Reunert, Linda De Meirleir, Eva Morava, Charles A. Stanley, Karin Huijben, Yoshinao Wada, Marie-Estelle Losfeld, Can Ficicioglu, Pascal Laforêt, Jolanta Sykut-Cegielska, Monique Piraud, Kimiyo Raymond, Maciej Adamowicz, V. Debus, Ping He, Laura C. Tegtmeyer, Francjan J. van Spronsen, Terry J. DeClue, Dirk Lefeber, Hudson H. Freeze, Nico Callewaert

Publikováno v: The New England Journal of Medicine, 370, 533-42
The New England Journal of Medicine, 370, 6, pp. 533-42
NEW ENGLAND JOURNAL OF MEDICINE
New England Journal of Medicine, 370(6), 533-542. MASSACHUSETTS MEDICAL SOC
The New England journal of medicine

BackgroundCongenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91d19f5f94f348953f8c87c56fa6e29e
https://pubmed.ncbi.nlm.nih.gov/24849094