ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
revised:
18
06
2021
received:
21
12
2020
accepted:
19
06
2021
pubmed:
29
6
2021
medline:
9
11
2021
entrez:
28
6
2021
Statut:
ppublish
Résumé
We here describe the identification of a novel variant in the anti-inflammatory Annexin A1 protein likely to be the cause of disease in two siblings with autosomal recessive parkinsonism. The disease-segregating variant was ascertained through a combination of homozygosity mapping and whole genome sequencing and was shown to impair phagocytosis in zebrafish mutant embryos. The highly conserved variant, absent in healthy individuals and public SNP databases, affected a functional domain of the protein with neuroprotective properties. This study supports the hypothesis that damaged microglia might lead to impairments in the clearance of accumulated and aggregated proteins resulting in parkinsonism. ANN NEUROL 2021;90:319-323.
Substances chimiques
Annexins
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
319-323Subventions
Organisme : Coro Paisan-Ruiz
ID : R01NS079388
Informations de copyright
© 2021 American Neurological Association.
Références
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