Substitution p.A350V in Na⁺/Mg²⁺ exchanger SLC41A1, potentially associated with Parkinson's disease, is a gain-of-function mutation
about
TRPM channels and magnesium in early embryonic developmentMutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.Abnormal differentiation of dopaminergic neurons in zebrafish trpm7 mutant larvae impairs development of the motor pattern.Juvenile nephronophthisis and dysthyroidism: a rare associationRole of Cellular Magnesium in Human DiseasesComprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.Identification of SLC41A3 as a novel player in magnesium homeostasis.Human CNNM2 is not a Mg(2+) transporter per se.Coherent and Contradictory Facts, Feats and Fictions Associated with Metal Accumulation in Parkinson's Disease: Epicenter or Outcome, Yet a Demigod Question.Solute carrier 41A3 encodes for a mitochondrial Mg(2+) efflux system.ATP-dependent modulation of MgtE in Mg2+ homeostasis.Genetic analysis of SLC41A1 in Chinese Parkinson's disease patients.Structural basis for ion selectivity revealed by high-resolution crystal structure of Mg2+ channel MgtE.Telomere Homeostasis: Interplay with Magnesium.Overexpression of Na+/Mg2+ exchanger SLC41A1 attenuates pro-survival signaling.Novel Aspects of Renal Magnesium Homeostasis.Insulin Modulates the Na+/Mg2+ Exchanger SLC41A1 and Influences Mg2+ Efflux from Intracellular Stores in Transgenic HEK293 Cells.PARK16 is associated with PD in the Malaysian population.Fine mapping and resequencing of the PARK16 locus in Parkinson's disease.
P2860
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P2860
Substitution p.A350V in Na⁺/Mg²⁺ exchanger SLC41A1, potentially associated with Parkinson's disease, is a gain-of-function mutation
description
2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique PLoS ONE
@fr
artículu científicu espublizáu en 2013
@ast
im Januar 2013 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2013/01/01)
@sk
vědecký článek publikovaný v roce 2013
@cs
wetenschappelijk artikel (gepubliceerd op 2013/01/01)
@nl
наукова стаття, опублікована в січні 2013
@uk
name
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@ast
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@en
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@nl
type
label
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@ast
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@en
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@nl
prefLabel
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@ast
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@en
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@nl
P2093
P2860
P921
P3181
P1433
P1476
Substitution p.A350V in Na⁺/Mg ...... is a gain-of-function mutation
@en
P2093
Gerhard Sponder
Juergen Vormann
Lucia Mastrototaro
Martin Kolisek
Monika Schweigel-Röntgen
Pierre Launay
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0071096
P407
P577
2013-08-15T00:00:00Z