Article
ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
Annals of neurology - 1 Aug 2021
Darvish Hossein, Azcona Luis J, Taghavi Shaghayegh, Firouzabadi Saghar Ghasemi, Tafakhori Abbas, Alehabib Elham, Mohajerani Fatemeh, Zardadi Safoura, Paisán-Ruiz Coro
Abstract excerpt
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...
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