Gene Expression Analysis in
Fabry disease
alpha-galactosidase A
calcium signaling
cardiac involvement
gla
oxidative stress
zebrafish
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
26 Dec 2022
26 Dec 2022
Historique:
received:
19
10
2022
revised:
19
12
2022
accepted:
20
12
2022
entrez:
8
1
2023
pubmed:
9
1
2023
medline:
11
1
2023
Statut:
epublish
Résumé
Fabry disease (FD) is an X-linked inborn metabolic disorder due to partial or complete lysosomal α-galactosidase A deficiency. FD is characterized by progressive renal insufficiency and cardio- and cerebrovascular involvement. Restricted access on Gb3-independent tissue injury experimental models has limited the understanding of FD pathophysiology and delayed the development of new therapies. Accumulating glycosphingolipids, mainly Gb3 and lysoGb3, are Fabry specific markers used in clinical follow up. However, recent studies suggest there is a need for additional markers to monitor FD clinical course or response to treatment. We used a
Identifiants
pubmed: 36613802
pii: ijms24010358
doi: 10.3390/ijms24010358
pmc: PMC9820748
pii:
doi:
Substances chimiques
alpha-Galactosidase
EC 3.2.1.22
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Western Norway Health Region (HelseVest)
ID : F-11546, 912233 (HV912233)
Organisme : European Commission
ID : 842619-DIE_CKD
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