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1.
Clin Case Rep ; 12(7): e9126, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38947541

RESUMO

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a novel autoinflammatory syndrome. We describe a case of VEXAS syndrome with upper airway and oral cavity involvement which are not well described in the literature.

2.
Cell Rep ; 30(6): 1670-1681.e7, 2020 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-32049001

RESUMO

Reproductive aging in female mammals is an irreversible process associated with declining oocyte quality, which is the rate-limiting factor to fertility. Here, we show that this loss of oocyte quality with age accompanies declining levels of the prominent metabolic cofactor nicotinamide adenine dinucleotide (NAD+). Treatment with the NAD+ metabolic precursor nicotinamide mononucleotide (NMN) rejuvenates oocyte quality in aged animals, leading to restoration in fertility, and this can be recapitulated by transgenic overexpression of the NAD+-dependent deacylase SIRT2, though deletion of this enzyme does not impair oocyte quality. These benefits of NMN extend to the developing embryo, where supplementation reverses the adverse effect of maternal age on developmental milestones. These findings suggest that late-life restoration of NAD+ levels represents an opportunity to rescue female reproductive function in mammals.


Assuntos
Fertilidade/genética , NAD/metabolismo , Envelhecimento , Animais , Feminino , Camundongos , Camundongos Transgênicos
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