Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of molecular neuroscience : MN - 1 Feb 2017

Larsen Frederik Tibert, Jensen Nina, Autzen Jacob Kwasi, Kongsfelt Iben Boutrup, Pedersen Lene

Abstract excerpt

Primary brain calcification (PBC) is a neurodegenerative disorder characterized by calcium-phosphate deposits in the basal ganglia and often also other areas of the brain. The prevalent clinical manifestations are cognitive impairment, neuropsychiatric symptoms, and movement disorders. In recent years, monoallelic variants in SLC20A2, which encodes the type III sodium-dependent inorganic phosphate (Pi)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Calcinosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Ion Transport

Share to Mice, Inbred C57BL

Share to Mutation, Missense

Share to Phosphates

Share to Sodium-Phosphate Cotransporter Proteins, Type III

Source

Open in PubMed Open full text

Identifiers

PMID: 27943094
DOI: 10.1007/s12031-016-0868-7
PMCID: PMC5321689

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells.PMID 27943094Read ↗

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.Semantic proximity Read ↗

Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification.Semantic proximity Read ↗

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.Semantic proximity Read ↗

Primary familial brain calcification: update on molecular genetics.Semantic proximity Read ↗

Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.Semantic proximity Read ↗

The genetics of primary familial brain calcifications.Semantic proximity Read ↗

Golgi damage caused by dysfunction of PiT-2 in primary familial brain calcification.Semantic proximity Read ↗

First report of a de novo mutation at SLC20A2 in a patient with brain calcification.Semantic proximity Read ↗

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.Semantic proximity Read ↗

Slc20a1 and Slc20a2 Regulate Neuronal Plasticity and Cognition Independently of Their Phosphate Transport AbilitySemantic proximity Read ↗

Pathophysiology of Primary Familial Brain Calcification.Semantic proximity Read ↗

Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.