Results 151 to 160 of about 129,849 (338)

Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation

open access: yesMovement Disorders, EarlyView.
Abstract Background Complex lipid metabolism is one of the main biological pathways disrupted in neurodegeneration with brain iron accumulation (NBIA). SLC27A3 gene encodes for the very long‐chain acyl‐CoA synthetase 3, an acyl‐CoA ligase that activates long and very long‐chain fatty acids.
Lorena Travaglini   +8 more
wiley   +1 more source

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

open access: yesMovement Disorders, EarlyView.
Abstract Background Allan‐Herndon‐Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X‐linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation.
Fabio Bruschi   +12 more
wiley   +1 more source

Dystonia and Ataxia Associated with Brain Iron Accumulation: Expanding the Phenotype of NPTX1‐Spinocerebellar Ataxia 50

open access: yes
Movement Disorders, EarlyView.
Gianmarco Dalla Zanna   +9 more
wiley   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

open access: yesMedicinal Research Reviews, EarlyView.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova   +3 more
wiley   +1 more source

Vessel segmentation for χ$$ \chi $$‐separation in quantitative susceptibility mapping

open access: yesMagnetic Resonance in Medicine, EarlyView.
Abstract Purpose χ$$ \chi $$‐separation is an advanced quantitative susceptibility mapping (QSM) method that is designed to generate paramagnetic (χpara$$ {\chi}_{para} $$) and diamagnetic (|χdia|$$ \mid {\chi}_{dia}\mid $$) susceptibility maps, reflecting the distribution of iron and myelin in the brain.
Taechang Kim   +7 more
wiley   +1 more source

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