Conformational changes associated with L16P and T118M mutations in the membrane-embedded PMP22 protein, consequential in CMT-1A
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DOI: 10.1080/07391102.2016.1234415
Abstract: Peripheral myelin protein 22 (PMP22) resides in the plasma membrane and is required for myelin formation in the peripheral nervous system. Excess PMP22 mutants accumulate in the endoplasmic reticulum (ER) resulting in the inherited neuropathies… read more here.
Keywords: protein; t118m mutations; pmp22; l16p t118m ... See more keywords