Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Helen, Michelakakis"'
Autor:
Marina Moraitou, Georgios Sotiroudis, Nikolaos Papagiannakis, Maria M J Ferraz, Aristotelis Xenakis, Johannes M F G Aerts, Leonidas Stefanis, Helen Michelakakis
Publikováno v:
PLoS ONE, Vol 18, Iss 2, p e0277602 (2023)
It is well established that patients with Gaucher disease, as well as carriers of the disease have an increased risk for developing Parkinson's disease. A plethora of evidence suggests that disturbed α-Synuclein homeostasis is the link between Gauch
Externí odkaz:
https://doaj.org/article/b2a6a8eefd614798ba76b06cca9aa10d
Autor:
Georgia Dermentzaki, Evangelia Dimitriou, Maria Xilouri, Helen Michelakakis, Leonidas Stefanis
Publikováno v:
PLoS ONE, Vol 16, Iss 6, p e0252975 (2021)
[This corrects the article DOI: 10.1371/journal.pone.0060674.].
Externí odkaz:
https://doaj.org/article/923977d1502a4e9d9a6fa6329d0acb67
Autor:
Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100614- (2020)
Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and o
Externí odkaz:
https://doaj.org/article/db1b2d148fd249fea79ee6f766ac274f
Autor:
Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing
Externí odkaz:
https://doaj.org/article/ed28cb0f8c164a91bcb9899c190800d3
Autor:
Evangelia Bountouvi, Anna Papadopoulou, Marie T. Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis, Argyrios Dinopoulos
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)
Abstract Background Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of famili
Externí odkaz:
https://doaj.org/article/f17c79ad9b4c4dd0ac92807418673708
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes. Lysosomes are key regulators of many different cellular pro
Externí odkaz:
https://doaj.org/article/71a5f8ef41ac44e7a3a4908468c490ea
Autor:
Christos Koros, Kathrin Brockmann, Athina‐Maria Simitsi, Anastasia Bougea, Hui Liu, Ann‐Kathrin Hauser, Claudia Schulte, Stefanie Lerche, Ioanna Pachi, Nikolaos Papagiannakis, Roubina Antonelou, Athina Zahou, Isabel Wurster, Efthymia Efthymiopoulou, Ion Beratis, Matina Maniati, Marina Moraitou, Helen Michelakakis, Georgios Paraskevas, Sokratis G. Papageorgiou, Constantin Potagas, Dimitra Papadimitriou, Maria Bozi, Maria Stamelou, Thomas Gasser, Leonidas Stefanis
Publikováno v:
Movement disorders 38(5), 907-909 (2023). doi:10.1002/mds.29399
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead54194927ab5e957b136a2e058c5da
Autor:
Vasiliki Karava, Antonia Kondou, John Dotis, Georgia Sotiriou, Spyridon Gerou, Helen Michelakakis, Euthymia Vargiami, Marina Economou, Dimitrios Zafeiriou, Nikoleta Printza
Publikováno v:
Children, Vol 8, Iss 2, p 112 (2021)
Methylmalonic acidemia and homocystinuria cobalamin C (cblC) type is the most common inborn error of the intracellular cobalamin metabolism, associated with multisystem involvement and high mortality rates, especially in the early-onset form of the d
Externí odkaz:
https://doaj.org/article/9143bdbdfe004d12a7863baf602d7f84
Autor:
Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos Eduardo Speck‐Martins, Daniel Rocha de Carvalho, Isabela Maria Pinto Oliveira de Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen Gorman, Stephanie Grunewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 769-781
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Contains fulltext : 282651.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurologica
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
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