Article
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.
Laboratory investigation; a journal of technical methods and pathology - 1 Sept 1998
Boissy R E, Zhao Y, Gahl W A
Abstract excerpt
Patients with Hermansky-Pudlak syndrome (HPS) exhibit moderate to mild hypopigmentation of the skin, hair, and eyes. To understand the inherent basis for this reduced pigmentation, pure cultures of melanocytes were derived using skin biopsies obtained from four patients with HPS. A nucleotide les...
Topics
- Albinism, Oculocutaneous
- Antigens, CD
- Cells, Cultured
- Gene Expression
- Humans
- Intracellular Membranes
- Melanins
- Melanocytes
- Membrane Glycoproteins
- Membrane Proteins
- Microscopy, Electron
- Mutation
- Oxidoreductases
- Platelet Membrane Glycoproteins
- Proteins
- Tetraspanin 30
- Tissue Distribution