Understanding the effects of deep space radiation on nervous system: the role of genetically tractable experimental models

G Onorato, E Di Schiavi, F Di Cunto - Frontiers in Physics, 2020 - frontiersin.org
Space agencies are working to establish a permanent human presence on the moon and to
reach Mars within the next few decades. In these missions, astronaut crew members will be …

Parkinsonism in children: Clinical classification and etiological spectrum

V Leuzzi, F Nardecchia, R Pons, S Galosi - Parkinsonism & related …, 2021 - Elsevier
Infantile-and childhood-onset parkinsonism is mainly due to genetic alterations and is an
exceedingly rare condition, unlike Parkinson's disease (PD), which is one of the most …

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling …

M Di Rocco, S Galosi, E Lanza, F Tosato… - Human Molecular …, 2022 - academic.oup.com
Dominant GNAO1 mutations cause an emerging group of childhood-onset neurological
disorders characterized by developmental delay, intellectual disability, movement disorders …

Prediction of future Parkinson disease using plasma proteins combined with clinical-demographic measures

J You, L Wang, Y Wang, J Kang, J Yu, W Cheng… - Neurology, 2024 - neurology.org
Background and Objectives Identification of individuals at high risk of developing Parkinson
disease (PD) several years before diagnosis is crucial for developing treatments to prevent …

Clinical approach to inborn errors of metabolism in paediatrics

JM Saudubray, Á García-Cazorla - Inborn metabolic diseases: diagnosis …, 2022 - Springer
Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The
application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal …

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

M Skorvanek, I Rektorova, W Mandemakers… - Parkinsonism & Related …, 2022 - Elsevier
Introduction Sixteen subjects with biallelic WARS2 variants encoding the tryptophanyl
mitochondrial aminoacyl-tRNA synthetase, presenting with a neonatal-or infantile-onset …

Parkinson's Disease, Parkinsonisms, and Mitochondria: The role of nuclear and mitochondrial DNA

A Legati, D Ghezzi - Current Neurology and Neuroscience Reports, 2023 - Springer
Abstract Purpose of Review Overwhelming evidence indicates that mitochondrial
dysfunction is a central factor in Parkinson's disease (PD) pathophysiology. This paper aims …

Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases

S Figuccia, R Izzo, A Legati, A Nasca… - Human Molecular …, 2024 - academic.oup.com
Abstract Aminoacyl-transfer RiboNucleic Acid synthetases (ARSs) are essential enzymes
that catalyze the attachment of each amino acid to their cognate tRNAs. Mitochondrial ARSs …

Genotype by environment interactions for chronic wasting disease in farmed US white-tailed deer

CM Seabury, MA Lockwood, TA Nichols - G3, 2022 - academic.oup.com
Despite implementation of enhanced management practices, chronic wasting disease in US
white-tailed deer (Odocoileus virginianus) continues to expand geographically. Herein, we …

[HTML][HTML] Pseudorabies virus manipulates mitochondrial tryptophanyl-tRNA synthetase 2 for viral replication

XQ Li, MP Cai, MY Wang, BW Shi, GY Yang, J Wang… - Virologica Sinica, 2024 - Elsevier
The pseudorabies virus (PRV) is identified as a double-helical DNA virus responsible for
causing Aujeszky's disease, which results in considerable economic impacts globally. The …