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Nat Genet
2012 Feb 12;443:254-6. doi: 10.1038/ng.1077.
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Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Wang C
,
Li Y
,
Shi L
,
Ren J
,
Patti M
,
Wang T
,
de Oliveira JR
,
Sobrido MJ
,
Quintáns B
,
Baquero M
,
Cui X
,
Zhang XY
,
Wang L
,
Xu H
,
Wang J
,
Yao J
,
Dai X
,
Liu J
,
Zhang L
,
Ma H
,
Gao Y
,
Ma X
,
Feng S
,
Liu M
,
Wang QK
,
Forster IC
,
Zhang X
,
Liu JY
.
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Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.
Bottger,
Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function.
2002, Pubmed,
Xenbase
Bottger,
Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function.
2002,
Pubmed
,
Xenbase
Dai,
Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.
2010,
Pubmed
Giachelli,
The emerging role of phosphate in vascular calcification.
2009,
Pubmed
Kavanaugh,
Identification and characterization of a widely expressed phosphate transporter/retrovirus receptor family.
1996,
Pubmed
Kendrick,
Phosphate and cardiovascular disease.
2011,
Pubmed
Lagrue,
Regional characterization of energy metabolism in the brain of normal and MPTP-intoxicated mice using new markers of glucose and phosphate transport.
2010,
Pubmed
Lohmann,
Familial idiopathic basal ganglia calcification: unraveling the first genetic cause.
2012,
Pubmed
Manyam,
What is and what is not 'Fahr's disease'.
2005,
Pubmed
Miklossy,
Severe vascular disturbance in a case of familial brain calcinosis.
2005,
Pubmed
Oliveira,
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).
2004,
Pubmed
Prié,
Genetic disorders of renal phosphate transport.
2010,
Pubmed
Ravera,
Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements.
2007,
Pubmed
,
Xenbase
Rutsch,
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
2003,
Pubmed
St Hilaire,
NT5E mutations and arterial calcifications.
2011,
Pubmed
Villa-Bellosta,
The Na+-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi.
2009,
Pubmed
Wider,
Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation.
2009,
Pubmed