Zobrazeno 1 - 10
of 132
pro vyhledávání: '"NGLY1-CDDG"'
Autor:
Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M.
Publikováno v:
In Molecular Genetics and Metabolism August 2019 127(4):368-372
Autor:
Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camilo, Latham, Lea, Zein, Wadih M., Lehky, Tanya, Brewer, Carmen, Baker, Eva H., Thurm, Audrey, Farmer, Cristan A., Rosenzweig, Sergio D., Lyons, Jonathan J., Schreiber, John M., Gropman, Andrea, Lingala, Shilpa, Ghany, Marc G., Solomon, Beth, Macnamara, Ellen, Davids, Mariska, Stratakis, Constantine A., Kimonis, Virginia, Gahl, William A., Wolfe, Lynne
Publikováno v:
In Genetics in Medicine February 2017 19(2):160-168
Autor:
Hanneke A. Haijes, Maria van der Ham, Judith J.M. Jans, Hubertus C.M.T. Prinsen, Anke P. Willems, Nanda M. Verhoeven-Duif, Johan Gerrits, Peter M. van Hasselt, Monique G.M. de Sain-van der Velden, Kathryn Selby, Jan M. Friedman, Madeline Couse, Clara D.M. van Karnebeek
Publikováno v:
Molecular genetics and metabolism, 127(4), 368-372. Academic Press Inc.
Molecular Genetics and Metabolism, 127(4), 368. Academic Press Inc.
Molecular Genetics and Metabolism, 127(4), 368. Academic Press Inc.
Background NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide:N-glycanase (PNG). To date, all but one of the reported patients have been diagnosed through whole-exome or whole-genome sequencing, as no biochemical mar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a22065ce3decf8730b17d2c8176b80
https://pure.amc.nl/en/publications/aspartylglycosamine-is-a-biomarker-for-ngly1cddg-a-congenital-disorder-of-deglycosylation(ae233d76-3112-45ca-99e8-1a585677b29c).html
https://pure.amc.nl/en/publications/aspartylglycosamine-is-a-biomarker-for-ngly1cddg-a-congenital-disorder-of-deglycosylation(ae233d76-3112-45ca-99e8-1a585677b29c).html
Akademický článek
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Autor:
Jonathan J. Lyons, Andrea L. Gropman, Marc G. Ghany, Lynne A. Wolfe, Carmen C. Brewer, John M. Schreiber, Shilpa Lingala, Audrey Thurm, Camilo Toro, Carlos Ferreira, Cristan Farmer, Virginia Kimonis, Constantine A. Stratakis, Ellen Macnamara, Beth Solomon, Eva H. Baker, Christina Lam, Wadih M. Zein, Sergio D. Rosenzweig, Donna M. Krasnewich, Tanya J. Lehky, William A. Gahl, Lea Latham, Mariska Davids
Publikováno v:
Genet Med
The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc537e6090ba42bf9d8cad0a13489fd
https://doi.org/10.1038/gim.2016.75
https://doi.org/10.1038/gim.2016.75
Autor:
Ge, Haixia1 (AUTHOR), Wu, Qingbin1 (AUTHOR), Lu, Huigang1 (AUTHOR), Huang, Yong1 (AUTHOR), Zhou, Tingting1 (AUTHOR), Tan, Danlin1 (AUTHOR), ZhongqinJin1 (AUTHOR) qingzhongjin@126.com
Publikováno v:
BMC Medical Genetics. 6/23/2020, Vol. 21 Issue 1, p1-4. 4p.
Autor:
Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri
Publikováno v:
Life, Vol 11, Iss 3, p 187 (2021)
NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequenc
Externí odkaz:
https://doaj.org/article/c93a77fd112040858a0f105c6bb0c938
Publikováno v:
Genomics & Genetics Weekly; 5/3/2024, p1873-1873, 1p
Autor:
Kimiyo Raymond, Sarah Snanoudj, Anne-Marie Guerrot, François Lecoquierre, Sophie Coutant, Ivana Dabaj, Soumeya Bekri, Stéphane Marret, Gaël Nicolas, Bénédicte Sudrié-Arnaud, Abdellah Tebani, Franklin Ducatez, Pascale Saugier-Veber
Publikováno v:
Life, Vol 11, Iss 187, p 187 (2021)
Life
Life
NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0893ec627169ffd440d051a0e07383eb
https://www.mdpi.com/2075-1729/11/3/187
https://www.mdpi.com/2075-1729/11/3/187
Autor:
Budhraja, Rohit, Saraswat, Mayank, De Graef, Diederik, Ranatunga, Wasantha, Ramarajan, Madan G., Mousa, Jehan, Kozicz, Tamas, Pandey, Akhilesh, Morava, Eva
Publikováno v:
Journal of Inherited Metabolic Disease; Jan2023, Vol. 46 Issue 1, p76-91, 16p