0000000000594679

AUTHOR

Beatriz Quintáns

showing 2 related works from this author

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

2012

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.

Genetic Markersmedicine.medical_specialtyGenetic LinkageMolecular Sequence DataMutation MissenseXenopusBasal ganglia calcification610 Medicine & healthPhosphates10052 Institute of PhysiologyXenopus laevis03 medical and health scienceschemistry.chemical_compound0302 clinical medicineAsian PeopleBasal Ganglia Diseases1311 GeneticsCalcinosisGenetic linkageInternal medicineGeneticsmedicineAnimalsHomeostasisHumansBasal ganglia disease030304 developmental biology0303 health sciencesBase SequencebiologySodium-Phosphate Cotransporter Proteins Type IIIParkinsonismCalcinosisSequence Analysis DNAmedicine.diseasePhosphatebiology.organism_classificationPedigreeEndocrinologychemistry10076 Center for Integrative Human PhysiologyOocytes570 Life sciences; biologyLod Score030217 neurology & neurosurgeryHomeostasisChromosomes Human Pair 8Nature genetics
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Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.

2013

The C9ORF72 Spanish Study Group, et al.

MaleChinaHeterozygoteDNA Mutational AnalysisChromosome 9Kaplan-Meier EstimateBiologyPolymorphism Single NucleotideAsian PeopleGene FrequencyJapanC9orf72GeneticsmedicineEthnicityHumansGenetic Predisposition to DiseaseFamily historyAlleleAmyotrophic lateral sclerosisGenetics (clinical)AgedGeneticsAged 80 and overDNA Repeat ExpansionC9orf72 ProteinHaplotypeAmyotrophic Lateral SclerosisProteinsmedicine.diseaseEuropeHaplotypesSpainAfricaMutationFemaleTrinucleotide repeat expansionFrontotemporal dementia
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