Importance of dietary phosphorus for bone metabolism and healthy aging

J Serna, C Bergwitz - Nutrients, 2020 - mdpi.com
Inorganic phosphate (Pi) plays a critical function in many tissues of the body: for example, as
part of the hydroxyapatite in the skeleton and as a substrate for ATP synthesis. Pi is the main …

Blood-brain barrier: more contributor to disruption of central nervous system homeostasis than victim in neurological disorders

M Xiao, ZJ Xiao, B Yang, Z Lan, F Fang - Frontiers in Neuroscience, 2020 - frontiersin.org
The blood-brain barrier (BBB) is a dynamic but solid shield in the cerebral microvascular
system. It plays a pivotal role in maintaining central nervous system (CNS) homeostasis by …

Transfer learning for high-dimensional linear regression: Prediction, estimation and minimax optimality

S Li, TT Cai, H Li - Journal of the Royal Statistical Society Series …, 2022 - academic.oup.com
This paper considers estimation and prediction of a high-dimensional linear regression in
the setting of transfer learning where, in addition to observations from the target model …

Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model

M Zhao, X Cheng, L Chen, YH Zeng, KJ Lin, YL Li… - Neuron, 2024 - cell.com
Primary familial brain calcification (PFBC) is a genetic neurological disease, yet no effective
treatment is currently available. Here, we identified five novel intronic variants in SLC20A2 …

The genetics of primary familial brain calcification: a literature review

SY Chen, CJ Ho, YT Lu, CH Lin, MY Lan… - International Journal of …, 2023 - mdpi.com
Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited
disorder characterized by bilateral calcification in the basal ganglia according to …

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

M Zhao, HZ Su, YH Zeng, Y Sun, XX Guo, YL Li… - Cell Discovery, 2022 - nature.com
Brain calcification is a critical aging-associated pathology and can cause multifaceted
neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier …

Genotype–phenotype relations in primary familial brain calcification: systematic MDSGene review

A Balck, S Schaake, NS Kuhnke, A Domingo… - Movement …, 2021 - Wiley Online Library
This systematic MDSGene review covers individuals with confirmed genetic forms of primary
familial brain calcification (PFBC) available in the literature. Data on 516 (47% men) …

Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force–an update

LM Lange, P Gonzalez‐Latapi… - Movement …, 2022 - Wiley Online Library
Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

M Lecca, D Pehlivan, DH Suñer, K Weiss… - The American Journal of …, 2023 - cell.com
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and
incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of …

The pathology of primary familial brain calcification: implications for treatment

X Xu, H Sun, J Luo, X Cheng, W Lv, W Luo… - Neuroscience …, 2023 - Springer
Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly
characterized by progressive calcium deposition bilaterally in the brain, accompanied by …