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of 153
pro vyhledávání: '"p.N409S"'
Akademický článek
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Autor:
Christiane Oleksy, François Massart, Stefano Goldwurm, Alessia Arado, Giuseppe Arena, Ibrahim Boussaad, Rejko Krüger
Publikováno v:
Stem Cell Research, Vol 72, Iss , Pp 103212- (2023)
We describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a Parkinson’s disease (PD) patient carrying the p.G2019S mutation in the LRRK2 gene and the p.N409S mutation in the GBA1 gene. iPSCs were gener
Externí odkaz:
https://doaj.org/article/a53d38b0423e44bf9a8e66c8a3cc7f84
Publikováno v:
Stem Cell Week; 10/30/2023, p1963-1963, 1p
Autor:
Gabbert, Carolin1 (AUTHOR), Schaake, Susen1 (AUTHOR), Lüth, Theresa1 (AUTHOR), Much, Christoph1 (AUTHOR), Klein, Christine1 (AUTHOR), Aasly, Jan O.2 (AUTHOR), Farrer, Matthew J.3 (AUTHOR), Trinh, Joanne1 (AUTHOR) joanne.trinh@neuro.uni-luebeck.de
Publikováno v:
BMC Genomics. 6/13/2023, Vol. 24 Issue 1, p1-8. 8p.
Autor:
Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100729- (2021)
Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and t
Externí odkaz:
https://doaj.org/article/cb0166f4cf984db8b4ddb03640eb43ac
Autor:
Mazzetti, Samanta, Contaldi, Elena, Basellini, Milo Jarno, Novello, Claudia, Calogero, Alessandra Maria, Straniero, Letizia, Garrì, Federica, Ferri, Valentina, Calandrella, Daniela, Del Sorbo, Francesca, Asselta, Rosanna, Cereda, Emanuele, Cappelletti, Graziella, Isaias, Ioannis Ugo, Pezzoli, Gianni
Publikováno v:
Brain Pathology; Nov2024, Vol. 34 Issue 6, p1-13, 13p
Autor:
Luca Fierro, Ashlee R. Stiles, Manisha Balwani, Priya S. Kishnani, Seung-Hye Jung, Erin Huggins
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100729-(2021)
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100729-(2021)
Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd2528af931c979c28bb4227bb81b505
http://europepmc.org/articles/PMC7876627
http://europepmc.org/articles/PMC7876627
Akademický článek
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Autor:
Phetthong, Tim1,2 (AUTHOR), Tim-Aroon, Thipwimol1 (AUTHOR), Khongkraparn, Arthaporn1 (AUTHOR), Noojarern, Saisuda1 (AUTHOR), Kuptanon, Chulaluck3,4 (AUTHOR), Wichajarn, Khunton5 (AUTHOR), Sathienkijkanchai, Achara6 (AUTHOR), Suphapeetiporn, Kanya7 (AUTHOR), Charoenkwan, Pimlak8 (AUTHOR), Tantiworawit, Adisak9 (AUTHOR), Noentong, Naruwan10 (AUTHOR), Wattanasirichaigoon, Duangrurdee1 (AUTHOR) duangrurdee.wat@mahidol.ac.th
Publikováno v:
Orphanet Journal of Rare Diseases. 12/20/2021, Vol. 16 Issue 1, p1-10. 10p.
Publikováno v:
American Journal of Medical Genetics. Part A; Sep2024, Vol. 194 Issue 9, p1-9, 9p