Frontiers in Aging Neuroscience, Год журнала: 2024, Номер 16
Опубликована: Ноя. 20, 2024
Parkinson's disease (PD) is an age-related neurodegenerative characterized by the death of dopamine neurons in substantia nigra. A large number studies have focused on themselves, but so far, pathogenesis PD has not been fully elucidated.
Язык: Английский
Molecular Genetics and Metabolism, Год журнала: 2024, Номер 143(3), С. 108596 - 108596
Опубликована: Окт. 22, 2024
Язык: Английский
Процитировано
0
bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown
Опубликована: Окт. 22, 2024
ABSTRACT α-Synuclein misfolding and progressive accumulation drives a pathogenic process in Parkinson’s disease. To understand cellular network vulnerability to α-synuclein pathology, we developed framework quantify network-level identify new therapeutic targets at the level. Full brain pathology was mapped mice over 9 months. Empirical data compared theoretical estimates from diffusion model of progression along anatomical connections. Unexplained variance enabled us derive regional that gene expression. We identified expression patterns relate vulnerability, including 12 kinases were enriched vulnerable regions. Among these, an inhibitor group II PAKs demonstrated protection neuron death even after delayed compound treatment. This study provides for derivation network-based studies identifies promising pathway Abstract Figure HIGHLIGHTS Longitudinal assessment 1046 regions months Linear modeling PANGEA: 19,000 genes 302 Group PAK prevents
Язык: Английский
Процитировано
0
ChemistrySelect, Год журнала: 2024, Номер 9(41)
Опубликована: Окт. 29, 2024
Abstract Dopamine is an important catecholamine neurotransmitter and its precise determination of great significance in the diagnosis treatment related diseases. This study presents a high‐performance enzyme‐free electrochemical sensor for dopamine based on combination Prussian blue analogues oxides with multi‐walled carbon nanotubes (PBO@CNTs). The prepared PBO@CNTs exhibited increased surface area 49.79 m 2 /g abundant mesoporous nanostructure, which providing numerous electroactive sites. Under optimal conditions, PBO@CNTs/Au high sensitivity 178.34 μA mM −1 cm −2 , broad linear range between 0.30 μM to 8 low detection limit 0.10 μM. It displayed excellent selectivity towards by successive addition various interfering species through chronoamperometry studies. Besides, proposed electrodes enjoyed repeatability, reproducibility long‐term stability. We also demonstrated successful application this serum. results indicated that dopamine‐selective sensors have potential clinical application.
Язык: Английский
Процитировано
0
PEDIATRICS, Год журнала: 2024, Номер unknown
Опубликована: Ноя. 19, 2024
Juvenile parkinsonism is an exceedingly rare condition in which clinical signs of manifest before 21 years age. Although the genetic underpinnings this disorder are increasingly recognized, full range inherited metabolic contributors remains undefined. We present first case levodopa-responsive juvenile associated with dihydropyrimidinase deficiency caused by a novel DPYS variant. A 13-year-old patient presented rapid progression dysphagia, dysarthria, and loss ambulation over 18 months. Whole-exome sequencing revealed compound heterozygous variants gene (NM_001385: c.1393C>T, p.R465X, c.905G>A, p.R302Q). In silico analysis predicted both to be pathogenic. Further urinary metabolome demonstrated markedly elevated dihydrouracil dihydrothymine levels, confirming impaired pyrimidine metabolism. Levodopa treatment effectively relieved patient’s motor symptoms. This report identifies as cause underscores potential efficacy levodopa therapy managing dysfunction DYPS-related parkinsonism.
Язык: Английский
Процитировано
0
Frontiers in Aging Neuroscience, Год журнала: 2024, Номер 16
Опубликована: Ноя. 20, 2024
Parkinson's disease (PD) is an age-related neurodegenerative characterized by the death of dopamine neurons in substantia nigra. A large number studies have focused on themselves, but so far, pathogenesis PD has not been fully elucidated.
Язык: Английский
Процитировано
0