Substitution p.A350V in Na+/Mg2+ Exchanger SLC41A1, Potentially Associated with Parkinson's Disease, Is a Gain-of-Function Mutation

PLoS ONE

Volumn 8, Issue 8, 2013, Pages

  Kolisek, Martin ^a   Sponder, Gerhard ^a   Mastrototaro, Lucia ^a   Smorodchenko, Alina ^b   Launay, Pierre ^c   Vormann, Juergen ^d   Schweigel Röntgen, Monika ^e  

^a FREIE UNIVERSITÄT BERLIN   (Germany)

^b UNIVERSITY OF VETERINARY MEDICINE   (Austria)

^c INSERM   (France)

^d Institute for Prevention and Nutrition   (Germany)

^e LEIBNIZ INSTITUTE FOR FARM ANIMAL BIOLOGY FBN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CYCLIC AMP; MAGNESIUM ION; SLC41A1 PROTEIN; SODIUM ION; SODIUM MAGNESIUM EXCHANGE PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN REGION; CATION TRANSPORT; CELL ADHESION; CELL PROLIFERATION; CONTROLLED STUDY; DISEASE EXACERBATION; EMBRYO; GAIN OF FUNCTION MUTATION; GENETIC VARIABILITY; HORMONE ACTION; HUMAN; HUMAN CELL; MAGNESIUM DEFICIENCY; MAGNESIUM TRANSPORT; PARKINSON DISEASE; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; SODIUM TRANSPORT;

ALANINE; AMINO ACID SUBSTITUTION; CATION TRANSPORT PROTEINS; CATIONS, DIVALENT; CATIONS, MONOVALENT; CELL ADHESION; CELL PROLIFERATION; CYCLIC AMP; GENE EXPRESSION REGULATION; HEK293 CELLS; HUMANS; ION TRANSPORT; MAGNESIUM; MUTATION; PARKINSON DISEASE; PHOSPHORYLATION; SODIUM; TRANSFECTION; VALINE;

EID: 84881586814     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0071096     Document Type: Article

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