Dowling-Degos disease co-presenting with Darier disease.
Indianapolis, United States. In Clin Exp Dermatol, Jan 2016
DDD results from mutations in the genes encoding keratin 5 (KRT5), protein O-glucosyltransferase 1 (POGLUT1) or protein O-fucosyltransferase 1 (POFUT1), while DD results from mutations in the ATP2A2 gene.
Calcium-ATPases: Gene disorders and dysregulation in cancer.
Baltimore, United States. In Biochim Biophys Acta, Dec 2015
Mutations in human ATP2A2, ATP2C1 genes, encoding housekeeping isoforms of the endoplasmic reticulum (SERCA2) and secretory pathway (SPCA1) pumps, respectively, confer autosomal dominant disorders of the skin, whereas mutations in other isoforms underlie various muscular, neurological, or developmental disorders.
Sequential fractionation and isolation of subcellular proteins from tissue or cultured cells.
Edmonton, Canada. In Methodsx, 2014
simple to replicate or adjust; this method does not require expensive reagents or use of commercial kits•The protocol can be applied to tissue samples or cultured cells without changing buffer components•Yields purified fractions of cytosolic, membrane bound and nuclear proteins, with the proper distribution of the appropriate subcellular markers: GAPDH, VDAC, SERCA2 and lamin A/C.
Regulation of SERCA pumps expression in diabetes.
Mexico. In Cell Calcium, 2014
A reduced activity and expression of SERCA2 protein have been described in heart failure and diabetic cardiomyopathy, resulting in an altered Ca(2+) handling and cardiac contractility.
Inhibition of miR-25 improves cardiac contractility in the failing heart.
San Diego, United States. In Nature, 2014
Using high-throughput functional screening of the human microRNAome, here we identify miRNAs that suppress intracellular calcium handling in heart muscle by interacting with messenger RNA encoding the sarcoplasmic reticulum calcium uptake pump SERCA2a (also known as ATP2A2).
SUMO1-dependent modulation of SERCA2a in heart failure.
New York City, United States. In Nature, 2011
data show that SUMOylation is a critical post-translational modification that regulates SERCA2a function, and provide a platform for the design of novel therapeutic strategies for heart failure
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Oxford, United Kingdom. In Nat Genet, 1999
After screening several genes that mapped to this region, we identified mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform (SERCA2) and is highly expressed in keratinocytes.