Substitution p.A350V in Na⁺/Mg²⁺ exchanger SLC41A1, potentially associated with Parkinson"s disease, is a gain-of-function mutation.

Autor:in

Kolisek, Martin; Sponder, Gerhard; Mastrototaro, Lucia; Smorodchenko, Alina; Launay, Pierre; Vormann, Juergen; Schweigel-Röntgen, Monika;

Schlagwörter

Alanine/genetics*; Amino Acid Substitution; Cation Transport Proteins/genetics*; Cation Transport Proteins/metabolism; Cations, Divalent; Cations, Monovalent; Cell Adhesion; Cell Proliferation; Cyclic AMP/pharmacology; Gene Expression Regulation; HEK293 Cells; Humans; Ion Transport/drug effects; Magnesium/metabolism*; Mutation*; Parkinson Disease/metabolism; Phosphorylation; Sodium/metabolism*; Transfection; Valine/genetics*;

ISSN/eISSN

1932-6203 -

WoS ID

WOS:000323378000033

Titel des Sammelwerks

PLOS ONE;