Zobrazeno 1 - 10
of 2 105
pro vyhledávání: '"KRABBE"'
Autor:
Pukar Khanal, Vishal S. Patil, Kunal Bhattacharya, Amit Kumar Shrivastava, Vishwambhar V. Bhandare
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Globoid cell leukodystrophy is a severe rare disorder characterized by white matter degradation, resulting in a progressive loss of physical and mental abilities and has extremely limited therapeutic interventions. Therefore, this study aime
Externí odkaz:
https://doaj.org/article/63af60a2d1fc4e6ca4989efde36d92cb
Impact of an irreversible β-galactosylceramidase inhibitor on the lipid profile of zebrafish embryos
Autor:
Jessica Guerra, Mirella Belleri, Giulia Paiardi, Chiara Tobia, Davide Capoferri, Marzia Corli, Elisa Scalvini, Marco Ghirimoldi, Marcello Manfredi, Rebecca C. Wade, Marco Presta, Luca Mignani
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 1397-1407 (2024)
Krabbe disease is a sphingolipidosis characterized by the genetic deficiency of the acid hydrolase β-galactosylceramidase (GALC). Most of the studies concerning the biological role of GALC performed on Krabbe patients and Galc-deficient twitcher mic
Externí odkaz:
https://doaj.org/article/c98712cfb14b4da3a4a44f64229c80dd
Autor:
Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1715-1731 (2024)
Abstract Objective Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late‐onset phenotypes, symptoms are often milder and difficult t
Externí odkaz:
https://doaj.org/article/21c7a70980a149a8bbd8094c36ff92e6
Akademický článek
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Autor:
Ambra Del Grosso, Sara Carpi, Miriam De Sarlo, Luca Scaccini, Laura Colagiorgio, Husam B.R. Alabed, Lucia Angella, Roberto Maria Pellegrino, Ilaria Tonazzini, Carla Emiliani, Marco Cecchini
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 173, Iss , Pp 116351- (2024)
Krabbe disease (KD) is a rare disorder arising from the deficiency of the lysosomal enzyme galactosylceramidase (GALC), leading to the accumulation of the cytotoxic metabolite psychosine (PSY) in the nervous system. This accumulation triggers demyeli
Externí odkaz:
https://doaj.org/article/b979d3d6cba14a10b93911bc5b1870c6
Autor:
Maghazachi AA
Publikováno v:
ImmunoTargets and Therapy, Vol Volume 12, Pp 105-111 (2023)
Azzam A Maghazachi Research Department, ImmnoProfiling and Boosting, Oslo, NorwayCorrespondence: Azzam A Maghazachi, Research Department, ImmunoProfiling and Boosting (IPAB), Oslo, Norway, Email azzammaghazachi2016@gmail.comAbstract: Globoid cell leu
Externí odkaz:
https://doaj.org/article/237748553a7e4b23bad9de4eb757434c
Autor:
Samantha Hammack, Devon Wallis Hague, Miranda D. Vieson, Elizabeth Esdaile, Shayne S. Hughes, Rebecca R. Bellone, Annette M. McCoy
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 37, Iss 5, Pp 1710-1715 (2023)
Abstract Background Globoid cell leukodystrophy (GCL) is a fatal autosomal recessive disease caused by variants in the galactosylceramidase (GALC) gene. Two dog breed‐specific variants are reported. Objectives Characterize the putatively causative
Externí odkaz:
https://doaj.org/article/5e750c089bc3462eb10b5c2bebeedfc9
Publikováno v:
Российский офтальмологический журнал, Vol 15, Iss 3, Pp 128-135 (2022)
Purpose: to describe surgical treatment of glaucoma of a patient with Sturge — Weber — Krabbe syndrome. We present a clinical case of a patient with Sturge — Weber — Krabbe syndrome who sought assistance with us due to secondary stage III gla
Externí odkaz:
https://doaj.org/article/0c52a26cff754b32b8e60ab9474b9f03
Autor:
Sandra O. Braz, Marlene M. Morgado, Marta I. Pereira, Ana C. Monteiro, Olga Golonzhka, Matthew Jarpe, Pedro Brites, Monica M. Sousa, Joana Nogueira-Rodrigues
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
IntroductionIn Krabbe disease (KD), mutations in β-galactosylceramidase (GALC), a lysosomal enzyme responsible for the catabolism of galactolipids, leads to the accumulation of its substrates galactocerebroside and psychosine. This neurologic condit
Externí odkaz:
https://doaj.org/article/938f42549aee43a6a1c0e96cc3ea2a06
Autor:
Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Patricia L. Hall, Joanne Kurtzberg, Joseph J. Orsini
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 10 (2024)
Krabbe disease (KD) is part of newborn screening (NBS) in 11 states with at least one additional state preparing to screen. In July 2021, KD was re-nominated for addition to the federal Recommended Uniform Screening Panel (RUSP) in the USA with a two
Externí odkaz:
https://doaj.org/article/c57784a319b248cd8b099c5cbb233ca0