Members of the mitochondrial carrier family (SLC25) transport a variety of compounds
across the inner membrane of mitochondria. These transport steps provide building blocks …

Lysine degradation via formation of saccharopine is a pathway confined to the mitochondria.
The second pathway for lysine degradation, the pipecolic acid pathway, is not yet fully …

In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases
resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations …

Enabled by a plethora of new technologies, research in membrane transporters has
exploded in the past decade. The goal of this state‐of‐the‐art article is to describe recent …

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 …

Background Obesity alters metabolic microenvironment and is thus associated with several
tumours. The aim of the present study was to investigate the role, molecular mechanism of …

Emerging evidence shows that KRAS-mutant colorectal cancer (CRC) depends on
glutamine (Gln) for survival and progression, indicating that targeting Gln metabolism may …

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease of variable
clinical severity that is caused by mutations in the survival motor neuron 1 (SMN1) gene …

Simple Summary The molecular mechanisms of Charcot–Marie–Tooth (CMT) disease,
involving impaired vitamin metabolism and/or actions, are considered in light of the potential …

Hereditary motor neuropathies are clinically and genetically diverse disorders characterized
by length-dependent axonal degeneration of lower motor neurons. Although currently as …