J Invest Dermatol 2021 Jun 8. Epub 2021 Jun 8.
Centre for Dermatology Research, University of Manchester, UK; The NIHR Biomedical Research Centre, Manchester, UK;; Dr Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA;; Monasterium Laboratory, Münster, Germany. Electronic address:
UDP-GlcNAc-1-phosphotransferase, a product of two separate genes (GNPTAB, GNPTG), is essential for sorting and transport of lysosomal enzymes to lysosomes. GNPTAB gene defects cause extracellular missorting of lysosomal enzymes resulting in lysosomal storage diseases, namely mucolipidosis (ML) type II, which is associated with hair discoloration. Yet, the physiological functions of GNPTAB in the control of hair follicle (HF) pigmentation remain unknown. Read More