Author: Lucile Hoch

0000000000359267

AUTHOR

Lucile Hoch

0000-0002-7264-9031

showing 1 related works from this author

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathw…

2018

AbstractHutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder that leads to premature aging. In this study, we used induced pluripotent stem cells to investigate the hypopigmentation phenotypes observed in patients with progeria. Accordingly, two iPS cell lines were derived from cells from HGPS patients and differentiated into melanocytes. Measurements of melanin content revealed a lower synthesis of melanin in HGPS melanocytes as compared to non-pathologic cells. Analysis of the melanosome maturation process by electron microscopy revealed a lower percentage of mature, fully pigmented melanosomes. Finally, a functional rescue experiment revealed the direct role of progerin…

0301 basic medicinePremature agingcongenital hereditary and neonatal diseases and abnormalitiesInduced Pluripotent Stem Cellslcsh:MedicineBiologyModels BiologicalArticleMelanin03 medical and health sciencesProgeriamedicineHumansInduced pluripotent stem celllcsh:SciencePigmentation disorderMelanosomeHypopigmentationProgeriaMelanosomesMultidisciplinaryintegumentary systemlcsh:Rnutritional and metabolic diseasesmedicine.diseaseProgerinCell biology030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsMelanocyteslcsh:Qmedicine.symptomPigmentation Disorders

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