Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.
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DOI: 10.1093/hmg/ddac244
Abstract: In human autosomal recessive woolly hair/hypotrichosis (ARWH/HT), many mutations have been identified in a gene encoding LPA6, a G protein-coupled receptor (GPCR) for lysophosphatidic acid (LPA). However, information regarding the effects of such mutations on… read more here.
Keywords: pharmacoperone therapy; recessive woolly; woolly hair; hair hypotrichosis ... See more keywords