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Description

Purpose

  • Oculocutaneous albinism type 1A (OCA1A) = recessive genetic condition caused by mutations in TYROSINASE
  • Created in vitro disease model for OCA1A using human induced pluripotent stem cell (iPSC) derived retinal pigment epithelium (RPE)
  • Role of autophagy (Fig. 2) in melanosome degradation and melanosomal trafficking
  • Aim to investigate whether loss of melanosomes in OCA1A-iRPE might impact autophagy

Publication Date

2024

Keywords

iPSC, RPE, albinism, OCA1A, tyrosinase, melanosomes

Disciplines

Medicine and Health Sciences

Comments

Presented at the 2024 AOA Research Symposium.

Melanosome Maturation Defects in TYROSINASE Deficient Human Retinal Pigment Epithelium

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