Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the
predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised …

The increase of HSPs and HCAs-related phenotypes and the continuous discovery of genes
complicate clinical diagnostic in practice but, at the same time, it helps highlighting common …

Broad-based exome sequencing has become the standard first-line diagnostic approach for
PMD. This has facilitated more rapid and accurate disease identification, and greatly …

Genetic early-onset parkinsonism presenting from infancy to adolescence (≤ 21 years old)
is a clinically diverse syndrome often combined with other hyperkinetic movement disorders …

Mutations in genes encoding mitochondrial aminoacyl-tRNA synthetases are linked to
diverse diseases. However, the precise mechanisms by which these mutations affect …

Background Neurodegenerative diseases encompass an extensive and heterogeneous
group of nervous system disorders which are characterized by progressive degeneration …

FARS2 encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS), which is
essential for charging mitochondrial (mt-) tRNA Phe with phenylalanine for use in …

The human brain consumes five orders of magnitude more energy than the sun by unit of
mass and time. This staggering bioenergetic cost serves mostly synaptic transmission and …

Protein-coding differences between species often fail to explain phenotypic diversity,
suggesting the involvement of genomic elements that regulate gene expression such as …

Background: Mitochondrial aminoacyl-tRNA synthetases (mtARSs) catalyze the binding of
specific amino acids to their cognate tRNAs and play an essential role in the synthesis of …