Zobrazeno 1 - 10
of 33
pro vyhledávání: '"GD, Gaucher Disease"'
Publikováno v:
Molecular Genetics and Metabolism
Introduction The impact of SARS-CoV-2 in rare disease populations has been underreported. Gaucher disease (GD) is a prototype rare disease that shares with SARS-CoV-2 a disruption of the lysosomal pathway. Materials-methods Retrospective analysis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2918e5ef97c8cf7968ff4e4379bf1afa
https://doi.org/10.1016/j.ymgme.2021.08.004
https://doi.org/10.1016/j.ymgme.2021.08.004
Autor:
D. Zhao, Jiapeng Ruan, Gabriel Aguilar, Guillermo Drelichman, N. Fernandez Escobar, Andrea Schenone, Nora Basack, Barbara C. Soberon, J. Knight, Pramod K. Mistry, Maria Silvia Larroude, J. Frabasil
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100820-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd8e84eba81215aff5096afe093e12ae
http://www.sciencedirect.com/science/article/pii/S2214426921001154
http://www.sciencedirect.com/science/article/pii/S2214426921001154
Autor:
Daphne E.C. Boer, Maria J. Ferraz, Rianne Meijer, Kimberley C. Zwiers, Mina Mirzaian, Jonathan C. P. Roos, Johannes M. F. G. Aerts, Navraj S. Pannu, Marc D. Hazeu, Herman S. Overkleeft, Rolf G. Boot, André R. A. Marques, Marta Artola, Roelof Ottenhoff, Merel V. Baks, Timothy M. Cox
Publikováno v:
Journal of Lipid Research, 62. ELSEVIER
Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100018-(2021)
Journal of lipid research, 62:RA120001043. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100018-(2021)
Journal of lipid research, 62:RA120001043. American Society for Biochemistry and Molecular Biology Inc.
Deficiency of glucocerebrosidase (GBA), a lysosomal beta-glucosidase, causes Gaucher disease. The enzyme hydrolyzes beta-glucosidic substrates and transglucosylates cholesterol to cholesterol-p-glucoside. Here we show that recombinant human GBA also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2f8307fc9146a377776a47bc11811f
https://hdl.handle.net/1887/3214386
https://hdl.handle.net/1887/3214386
Autor:
Reena V. Kartha, Kyle Rudser, Jeanine Jarnes, Neal J. Weinreb, Roland Brown, Marcia R. Terluk, Usha Mishra, James C. Cloyd, Abigail Travis, Heather Lau
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100667-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100667-(2020)
Gaucher disease is an autosomal recessive metabolic disorder caused by mutations in GBA1, which encodes for the lysosomal hydrolase enzyme, β-glucocerebrosidase. The resulting misfolded protein can trigger endoplasmic reticulum stress and an unfolde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e464387def65fd2c57de493b1cb23aaf
http://europepmc.org/articles/PMC7733024
http://europepmc.org/articles/PMC7733024
Autor:
Hsiu Ju Yen, Giun-Yi Hung, Chia-Feng Yang, Sheng-Kai Chang, Fu-Shiuan Lee, Yi-Chen Yeh, Paul Chih-Hsueh Chen, Chih-Ying Lee, Dau-Ming Niu
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100652-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100652-(2020)
Objective To provide strategies for monitoring and treating severe lung involvement in Gaucher disease. Study design We reviewed the chart of a 5-year-old boy who developed rapidly progressive, severe infiltrative lung involvement of Gaucher disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afc1e9a98467ba5f01ccff2ff0753278
http://europepmc.org/articles/PMC7576510
http://europepmc.org/articles/PMC7576510
Autor:
E. Dimitriou, Jenny Serra-Vinardell, Lluïsa Vilageliu, Irene Mavridou, Helen Michelakakis, Mónica Cozar, Daniel Grinberg, Marina Moraitou
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100614-(2020)
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa91b1d3e287b6d58d7692b7ff67419b
http://europepmc.org/articles/PMC7284128
http://europepmc.org/articles/PMC7284128
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100606-(2020)
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100606-(2020)
Gaucher disease (GD; OMIM 230800 ) is a lysosomal storage disorder caused by a deficiency in acid beta-glucosidase as a result of mutation in the GBA gene. Type 1 GD (GD1) is the most common form and its clinical manifestations include severe hematol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bad142e2badcc8ef79097b4cc1ba28ed
http://europepmc.org/articles/PMC7264072
http://europepmc.org/articles/PMC7264072
Autor:
Zoya Panahloo, Ida Vanessa Doederlein Schwartz, Ari Zimran, Lydie Renault, Ozlem Goker-Alpan, Priya S. Kishnani, Patrick Deegan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 73-79 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2374faafcaab66d7e6a835cbcf84c57
http://www.sciencedirect.com/science/article/pii/S2214426917301416
http://www.sciencedirect.com/science/article/pii/S2214426917301416
Autor:
Yi-Chen Yeh, Wen-Jue Soong, Tsui-Feng Yang, Chuan-Chi Chiang, Dau-Ming Niu, Hui-Chen Ho, Chia-Feng Yang, Man-Hsu Huang, Tzu-Hung Chu, Szu-Yin Tseng, Hsuan-Chieh Liao
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background: This study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy (ERT) for 19 months and then developed multiple Gaucheroma. Review of literature was performed simultaneously. Methods: The m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96c2147209a8c063f90f79171d68fd57
http://www.sciencedirect.com/science/article/pii/S2214426919300643
http://www.sciencedirect.com/science/article/pii/S2214426919300643
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1765c31538b314c8b2eb95ed27319a9c
http://europepmc.org/articles/PMC6606832
http://europepmc.org/articles/PMC6606832