Early senescence in heterozygous ABCA1 mutation skin fibroblasts: A gene dosage effect beyond HDL deficiency?

Puntoni, M.; Bigazzi, Federico; Sabatino, Laura; Sbrana, Francesco; Musio, Antonio; Pino, Beatrice Dal; Ragusa, Andrea; Corsano, Elena; Sampietro, Tiziana

doi:10.1016/j.bbrc.2014.03.090

Cited by 3 publications

(1 citation statement)

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“…To date, few experiments assessed the role of the ABCA1 and ABCA12 genes in the skin. It was indicated that mutations in the ABCA1 gene are the cause of reduced cholesterol efflux from cells (Tangier disease) and may perform a role in the early senescence of human skin fibroblasts [18]. Other observations showed that mutations of the ABCA12 gene are also involved in the skin pathology known as harlequin ichthyosis [19,20].…”

Section: Introductionmentioning

confidence: 99%

Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes

Ścieżyńska

Łuszczyński

Radziszewski

et al. 2023

IJMS

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The ABCA4 gene encodes an ATP-binding cassette transporter that is expressed specifically in the disc of photoreceptor outer segments. Mutations in the ABCA4 gene are the main cause of retinal degenerations known as “ABCA4-retinopathies.” Recent research has revealed that ABCA4 is expressed in other cells as well, such as hair follicles and keratinocytes, although no information on its significance has been evidenced so far. In this study, we investigated the role of the ABCA4 gene in human keratinocytes and hair follicle stem cells for the first time. We have shown that silencing the ABCA4 gene increases the deleterious effect of all-trans-retinal on human hair follicle stem cells.

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Section: Introductionmentioning

confidence: 99%