Transfer RNAs (tRNAs) decode messenger RNA codons to peptides at the ribosome. The
nuclear genome contains many tRNA genes for each amino acid and even each anticodon …

Diabetes represents a spectrum of disease in which metabolic dysfunction damages
multiple organ systems including liver, kidneys and peripheral nerves,. Although the onset …

Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive
deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is …

Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in
neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes …

Sphingolipids (SLs) are essential lipids with important functions in membrane formation and
cell signaling. The presence of a long chain base (LCB) structure is common to all SLs. De …

Serine palmitoyltransferase (SPT) predominantly incorporates serine and fatty acyl-CoAs
into diverse sphingolipids (SLs) that serve as structural components of membranes and …

The aetiology and pathophysiology of many diseases of the motor unit remain poorly
understood and the role of the neuromuscular junction (NMJ) in this group of disorders is …

Motor neuron diseases and peripheral neuropathies are heterogeneous groups of
neurodegenerative disorders that manifest with distinct symptoms due to progressive …

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Abstract Charcot-Marie-Tooth disease (CMT) is a genetic peripheral neuropathy caused by
mutations in many functionally diverse genes. The aminoacyl-tRNA synthetase (ARS) …