| Literature DB >> 29667928 |
Seth L Robia1, Howard S Young2.
Abstract
Naturally occurring mutations of a calcium ion transporter can cause a skin condition known as Darier's disease. In this issue of JBC, Mikkelsen et al. describe a particularly interesting Darier's mutation that alters calcium transport by disrupting a kinetic braking mechanism that is unique to the SERCA2b calcium pump isoform. The study provides new insight into the intrinsic regulation of this transporter and reveals how disruption of regulation can lead to disease in Darier's patients.Entities:
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Year: 2018 PMID: 29667928 PMCID: PMC5857981 DOI: 10.1074/jbc.H118.002088
Source DB: PubMed Journal: J Biol Chem ISSN: 0021-9258 Impact factor: 5.157