Identification of Putative Natriuretic Hormones Isolated from Human Urine.
Bonn, Germany. In Front Endocrinol (lausanne), 2014
This brief review describes some representative methodological approaches to the isolation of putative endogenous inhibitors of epithelial sodium transport - i.e., as ouabain-like factors (OLF) that inhibit the sodium transport enzyme Na-K-ATPase or inhibit the epithelial sodium channel (ENaC).
Genetics in dystonia.
Lübeck, Germany. In Parkinsonism Relat Disord, 2014
Confirmed genes for isolated dystonias include TOR1A/DYT1; THAP1/DYT6; GNAL/DYT25.
Mutations in GNAL cause primary torsion dystonia.
New York City, United States. In Nat Genet, 2013
Using exome sequencing in two families with PTD, we identified a new causative gene, GNAL, with a nonsense mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutation encoding p.Val137Met in the other.