Article

PYCR1 Levels Track with Premature and Chronological Skin Aging

2023-05-28

Abstract excerpt

<h4>ABSTRACT</h4> De Barsy syndrome is a recessive progeroid disease classified under the group of cutis laxa syndromes. The disease is attributed to loss-of-function mutations in PYCR1 or ALDH18A1 , leading to premature skin aging. Here we report five PYCR1 pathogenic alleles and a mouse knockout model of the disease. Through these investigations, we have confirmed the key role of PYCR1 in preventing dermal t...

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Literature Corpus work: 1e0ed26e-019b-5757-989b-15fb0cfa7af6
DOI: 10.1101/2023.05.24.23289766

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