Myelination of the nervous system: mechanisms and functions

KA Nave, HB Werner - Annual review of cell and developmental …, 2014 - annualreviews.org
Myelination of axons in the nervous system of vertebrates enables fast, saltatory impulse
propagation, one of the best-understood concepts in neurophysiology. However, it took a …

Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

MS Van der Knaap, M Bugiani - Acta neuropathologica, 2017 - Springer
Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from …

Aminoacyl-tRNA synthetases as therapeutic targets

NH Kwon, PL Fox, S Kim - Nature reviews Drug discovery, 2019 - nature.com
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for protein synthesis with
evolutionarily conserved enzymatic mechanisms. Despite their similarity across organisms …

[HTML][HTML] Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

E Karaca, T Harel, D Pehlivan, SN Jhangiani… - Neuron, 2015 - cell.com
Development of the human nervous system involves complex interactions among
fundamental cellular processes and requires a multitude of genes, many of which remain to …

Hypomyelinating leukodystrophies—Unravelling myelin biology

NI Wolf, C Ffrench-Constant… - Nature Reviews …, 2021 - nature.com
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders
characterized by a primary lack of myelin deposition. Most patients with severe …

Aminoacyl-tRNA synthetases: on anti-synthetase syndrome and beyond

AS Galindo-Feria, A Notarnicola, IE Lundberg… - Frontiers in …, 2022 - frontiersin.org
Anti-synthetase syndrome (ASSD) is an autoimmune disease characterized by the presence
of autoantibodies targeting one of several aminoacyl t-RNA synthetases (aaRSs) along with …

Regulation of mRNA translation in neurons—a matter of life and death

M Kapur, CE Monaghan, SL Ackerman - Neuron, 2017 - cell.com
Dynamic regulation of mRNA translation initiation and elongation is essential for the survival
and function of neural cells. Global reductions in translation initiation resulting from …

Aminoacyl-tRNA synthetases in human health and disease

AK Turvey, GA Horvath, ARO Cavalcanti - Frontiers in Physiology, 2022 - frontiersin.org
The Aminoacyl-tRNA Synthetases (aaRSs) are an evolutionarily ancient family of enzymes
that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino …

Transfer RNA and human disease

JA Abbott, CS Francklyn, SM Robey-Bond - Frontiers in genetics, 2014 - frontiersin.org
Pathological mutations in tRNA genes and tRNA processing enzymes are numerous and
result in very complicated clinical phenotypes. Mitochondrial tRNA (mt-tRNA) genes are …

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

R Meyer-Schuman, A Antonellis - Human molecular genetics, 2017 - academic.oup.com
Aminoacyl-tRNA synthetases (ARSs) are responsible for charging amino acids to cognate
tRNA molecules, which is the essential first step of protein translation. Interestingly …