Zobrazeno 1 - 10
of 1 838
pro vyhledávání: '"Krabbe disease"'
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:
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
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
Autor:
Masanori Sawamura, Kiyoshi Tachikawa, Rie Hikawa, Hisako Akiyama, Seiji Kaji, Ken Yasuda, Angel I. Leu, Hyojung Hong, Rajesh Mukthavaram, Pad Chivukula, Hodaka Yamakado, Yoshio Hirabayashi, Ryosuke Takahashi, Shu-ichi Matsuzawa
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102380- (2024)
Despite the wide range of applications of mRNA therapies, major difficulties exist in the efficient delivery of mRNA into oligodendrocytes, a type of glial cell in the brain. Commonly used viral vectors are not efficient in transforming oligodendrocy
Externí odkaz:
https://doaj.org/article/a690f55095224122b98cf44013d30ce2
Akademický článek
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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
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
Akademický článek
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