Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization

Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications

(2017) L.F. Pimentel et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

The type III transporters (PiT-1 and PiT-2) are the major sodium-dependent phosphate transporters in the mice and human brains

(2016) Masatoshi Inden et al.   BRAIN RESEARCH

Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells

(2016) Frederik Tibert Larsen et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

(2015) Andrea Legati et al.   NATURE GENETICS

Primary familial brain calcification: update on molecular genetics

(2015) Ilaria Taglia et al.   NEUROLOGICAL SCIENCES

Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with anSLC20A2mutation

(2015) Tadashi Kimura et al.   NEUROPATHOLOGY

Implications of aromatic-aromatic interactions: From protein structures to peptide models

(2015) Kamlesh Madhusudan Makwana et al.   PROTEIN SCIENCE

Primary Familial Brain Calcification With Known Gene Mutations

(2015) Vera Tadic et al.   JAMA Neurology

The Genetics of Primary Familial Brain Calcifications

(2014) Ana Westenberger et al.   Current Neurology and Neuroscience Reports

First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification

(2014) J. B. Ferreira et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

(2013) Gaël Nicolas et al.   BRAIN

Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice

(2013) Nina Jensen et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

(2013) Annika Keller et al.   NATURE GENETICS

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

(2013) Sandy Chan Hsu et al.   NEUROGENETICS

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

(2013) Matt Baker et al.   NEUROGENETICS

Scalable web services for the PSIPRED Protein Analysis Workbench

(2013) Daniel W. A. Buchan et al.   NUCLEIC ACIDS RESEARCH

Nucleophosmin mutations in acute myeloid leukemia: A tale of protein unfolding and mislocalization

(2013) Luca Federici et al.   PROTEIN SCIENCE

Clinical Consequences of Mutations in Sodium Phosphate Cotransporters

(2012) E. Lederer et al.   Clinical Journal of the American Society of Nephrology

Recognizable phenotypes associated with intracranial calcification

(2012) JOHN H LIVINGSTON et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2012) Cheng Wang et al.   NATURE GENETICS

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

(2012) G. Nicolas et al.   NEUROLOGY

Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life

(2011) Pernille Bøttger et al.   BMC BIOCHEMISTRY

Quantifying colocalization by correlation: The Pearson correlation coefficient is superior to the Mander's overlap coefficient

(2010) Jeremy Adler et al.   CYTOMETRY PART A

Colocalization Analysis in Fluorescence Micrographs: Verification of a More Accurate Calculation of Pearson's Correlation Coefficient

(2010) Andrew L. Barlow et al.   MICROSCOPY AND MICROANALYSIS