Article

Mutations in <i>GPNMB</i> associated with Amyloid cutis dyschromica alter intracellular trafficking and processing of GPNMB

2023-12-20

Abstract excerpt

Amyloid cutis dyschromica (ACD) is a rare skin condition characterized by focal areas of hyperpigmentation with hypopigmented macules and distinct regions of amyloid deposition. Until recently, the genetic cause of ACD remained unknown. Several studies have since named GPNMB truncation mutations as causal, with protein loss-of-function underlying ACD pathogenesis. GPNMB missense mutations have also been observed i...

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Literature Corpus work: aee0ca5b-e30e-542b-84e6-8ed1ad6dac8c
DOI: 10.1101/2023.12.19.572409

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