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Article

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

PloS one - 1 Jan 2013

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

Abstract excerpt

Parkinson's disease (PD) is a complex multifactorial ailment predetermined by the interplay of various environmental and genetic factors. Systemic and intracellular magnesium (Mg) deficiency has long been suspected to contribute to the development and progress of PD and other neurodegenerative diseases. However, the molecular background is unknown. Interestingly, gene SLC41A1 located in the novel PD locus PARK16...

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PMID: 23976986
DOI: 10.1371/journal.pone.0071096
PMCID: PMC3744568

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