Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Lyso-Gb1"'
Autor:
Pawel Dubiela, Paulina Szymanska-Rozek, Piotr Hasinski, Patryk Lipinski, Grazina Kleinotiene, Dorota Giersz, Anna Tylki-Szymanska
Publikováno v:
Biomolecules, Vol 14, Iss 7, p 842 (2024)
Background: Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the GBA1 gene, leading to β-glucocerebrosidase deficiency and glucosylceramide accumulation. Methods: We analyzed short- and long-term dynamics of lyso-glucosylc
Externí odkaz:
https://doaj.org/article/beef81b50a8349ceb2834646c8c9db0c
Autor:
Gaetano Giuffrida, Uros Markovic, Annalisa Condorelli, Valeria Calafiore, Daniela Nicolosi, Marianna Calagna, Stephanie Grasso, Marco Tindaro Valentino Ragusa, Jennifer Gentile, Mariasanta Napolitano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fres
Externí odkaz:
https://doaj.org/article/ec6ba389d47e4667a7e39cb9ba5a2240
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Gaucher disease (GD) is an autosomal recessive disease caused by GBA1 mutations resulting in glucosylceramide accumulation in macrophages. GD is characterized by hepatosplenomegaly, anemia, thrombocytopenia, bone complications, an
Externí odkaz:
https://doaj.org/article/05a8fbbe616a454bbe21dda1941c5e11
Publikováno v:
Türk Biyokimya Dergisi, Vol 47, Iss 4, Pp 457-463 (2022)
We aimed to determine the relationship of Lyso-Gb1 levels, bone biomarkers, and mutation findings with bone marrow burden (BMB) scores.
Externí odkaz:
https://doaj.org/article/9b3b3b85e0544f0da263f676d0d553b9
Akademický článek
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Akademický článek
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Autor:
Filipa Curado, Sabine Rösner, Susanne Zielke, Gina Westphal, Ulrike Grittner, Volha Skrahina, Mohammed Alasel, Ahmad Mehmood Malik, Christian Beetz, Tobias Böttcher, Gal Barel, Ashish Prasad Sah, Tama Dinur, Nadeem Anjum, Quidad Ichraf, Yamna Kriouile, Zahra Hadipour, Fatemeh Hadipour, Shoshana Revel-Vilk, Claudia Cozma, Jörg Hartkamp, Huma Cheema, Ari Zimran, Peter Bauer, Arndt Rolfs
Publikováno v:
Diagnostics, Vol 13, Iss 17, p 2812 (2023)
Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the GBA1 gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to progressive accumulation of the sphingolipid glucosylsphingosine (lyso-Gb1)
Externí odkaz:
https://doaj.org/article/8bc45cefc4f4454f8ba12c3c3714514a
Autor:
Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E. Mercier, Christiane Auray-Blais
Publikováno v:
Diagnostics, Vol 12, Iss 6, p 1414 (2022)
Gaucher disease is a rare inherited disorder caused by a deficiency of the lysosomal acid beta-glucocerebrosidase enzyme. Metabolomic studies by our group targeted several new potential urinary biomarkers. Apart from lyso-Gb1, these studies highlight
Externí odkaz:
https://doaj.org/article/8b5feada042e4ef6bacaa0d1c66bfb53
Autor:
Markku J. Savolainen, Antti Karlsson, Samppa Rohkimainen, Iiro Toppila, Mariann I. Lassenius, Carlos Vaca Falconi, Kristiina Uusi-Rauva, Kaisa Elomaa
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100725- (2021)
Background: Gaucher disease (GD) is a rare inherited multiorgan disorder, yet a diagnosis can be significantly delayed due to a broad spectrum of symptoms and lack of disease awareness. Recently, the prototype of a GD point-scoring system (PSS) was e
Externí odkaz:
https://doaj.org/article/38f284b8027447c3a34e8bc0e1e81f11
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