Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Autor: Tzung-Chien Hsieh, Yaron Gurovich, Helenius Jurgen Schelhaas, Natasha J Brown, Peter Krawitz, Ingo Helbig, Ewa Obersztyn, Denise Horn, Max Schubach, Stefan Mundlos, Nicolas Chassaing, Yvonne G. Weber, Sebastian Koehler, Alexej Knaus, Hiltrud Muhle, Steven A. Skinner, Patrick Calvas, Peter N. Robinson, Max Zhao, Christian Korff, Nurulhuda Hajjir, Nicole Fleischer, Manuela Pendziwiat, Myrthe van den Born, Hannah Warren, Agnieszka Charzewska, Marten Jäger, Milda Endziniene, Raymond J. Louie, Marc Bohn, Fanny Kortuem, Jean Tori Pantel, Christina Evers, Hans Jürgen Christen, Allan Bayat, Rikke S. Møller

Publikováno v: Genome Medicine
Genome Medicine, BioMed Central, 2018, 10 (1), pp.1-13. ⟨10.1186/s13073-017-0510-5⟩
Genome Medicine, Vol. 10, No 3 (2018) pp. 1-13
Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)
Knaus, A, Pantel, J T, Pendziwiat, M, Hajjir, N, Zhao, M, Hsieh, T C, Schubach, M, Gurovich, Y, Fleischer, N, Jäger, M, Köhler, S, Muhle, H, Korff, C, Møller, R S, Bayat, A, Calvas, P, Chassaing, N, Warren, H, Skinner, S, Louie, R, Evers, C, Bohn, M, Christen, H J, van den Born, M, Obersztyn, E, Charzewska, A, Endziniene, M, Kortüm, F, Brown, N, Robinson, P N, Schelhaas, H J, Weber, Y, Helbig, I, Mundlos, S, Horn, D & Krawitz, P M 2018, ' Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis ', Genome Medicine, vol. 10, 3 . https://doi.org/10.1186/s13073-017-0510-5
Genome Medicine, 10:3. BioMed Central Ltd.

BackgroundGlycosylphosphatidylinositol Biosynthesis Defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding mol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93254e6a8ecd9aee69a9f933a0f27616
https://hdl.handle.net/21.11116/0000-0003-65DF-121.11116/0000-0003-65E1-D

Comprehensive Analysis of Glycosylphosphatidylinositol-Anchored Proteins in Candida albicans

Autor: Mathias L. Richard, Armêl Plaine

Publikováno v: Eukaryotic Cell
Eukaryotic Cell, American Society for Microbiology, 2007, 6 (2), pp.119-33. ⟨10.1128/EC.00297-06⟩

There are two types of membrane proteins: the integral membrane proteins and the lipid-anchored proteins. Integral membrane proteins contain one or several transmembrane domains that allow for the formation of hydrophobic α-helices, which ultimately

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a4259a146091cfde2aedc9113aef4f7
https://doi.org/10.1128/ec.00297-06

β(1-3)Glucanosyltransferase Gel4p Is Essential for Aspergillus fumigatus ▿

Autor: Gastebois, Amandine, Fontaine, Thierry, Latgé, Jean-Paul, Mouyna, Isabelle, Latge, J.-P.

Publikováno v: Eukaryotic Cell
Eukaryotic Cell, 2010, 9 (8), pp.1294-1298. ⟨10.1128/EC.00107-10⟩
Eukaryotic Cell, American Society for Microbiology, 2010, 9 (8), pp.1294-1298. ⟨10.1128/EC.00107-10⟩

The β(1-3)glucanosyltransferase GEL family of Aspergillus fumigatus contains 7 genes, among which only 3 are expressed during mycelial growth. The role of the GEL4 gene was investigated in this study. Like the other Gelps, it encodes a glycosylphosp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::438fc6c9b3d1ba1a066f87dcf5d3ba51
https://europepmc.org/articles/PMC2918925/

GPI-anchored proteins at the node of Ranvier

Autor: Marilyne Labasque, Catherine Faivre-Sarrailh

Publikováno v: FEBS Letters
FEBS Letters, Wiley, 2010, 584 (9), pp.1787-92. ⟨10.1016/j.febslet.2009.08.025⟩
FEBS Letters, 2010, 584 (9), pp.1787-92. ⟨10.1016/j.febslet.2009.08.025⟩

International audience; Contactin and TAG-1 are glycan phosphatidyl inositol (GPI)-anchored cell adhesion molecules that play a crucial role in the organization of axonal subdomains at the node of Ranvier of myelinating fibers. Contactin and TAG-1 me

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::929521b4d2399a61c3c0d36d33a9067c
https://pubmed.ncbi.nlm.nih.gov/19703450

Bioinformatics and functional analysis of an Entamoeba histolytica mannosyltransferase necessary for parasite complement resistance and hepatical infection

Autor: Rachid C. Maroun, Nancy Guillén, Marie-Christine Rigothier, Christian Weber, Sabrina Marion, Samantha Blazquez, Mickael Krzeminski, Alok Bhattacharya, Divya Vats, Christophe Ausseur

Publikováno v: PLoS Neglected Tropical Diseases
PLoS Neglected Tropical Diseases, 2008, 2 (2), pp.e165. ⟨10.1371/journal.pntd.0000165⟩
PLoS Neglected Tropical Diseases, Vol 2, Iss 2, p e165 (2008)
PLoS Neglected Tropical Diseases, Public Library of Science, 2008, 2 (2), pp.e165. ⟨10.1371/journal.pntd.0000165⟩

The glycosylphosphatidylinositol (GPI) moiety is one of the ways by which many cell surface proteins, such as Gal/GalNAc lectin and proteophosphoglycans (PPGs) attach to the surface of Entamoeba histolytica, the agent of human amoebiasis. It is belie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d3530e24b1951c02cc3f46566c14f5
https://www.hal.inserm.fr/inserm-00691345/document