DNA is present in the nucleus and mitochondria of eukaryotic cells. There are, however,
certain instances in which DNA emerges in the cytosol. The two major sources of cytosolic …

Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–
Marie–Tooth (CMT) disease has helped identify the causative genes provided better …

The cGAS–STING pathway is an evolutionarily conserved immune signaling pathway critical
for microbial defense. Unlike other innate immune pathways that largely rely on stationary …

Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular
disorders characterized by lower motor neuron dysfunction, slowly progressive length …

Despite the wide use of NGS, the diagnosis of dHMN remains a challenge. The low
prevalence of dHMN makes international cooperation necessary in order to discover new …

Recently, biallelic variants in the SORD gene were identified as causal for axonal hereditary
neuropathy (HN). We ascertained the spectrum and frequency of SORD variants among a …

Genetic abnormalities play a crucial role in the development of neurodegenerative disorders
(NDDs). Genetic exploration has indeed contributed to unraveling the molecular …

Microglial fatty-acid binding protein 4 (FABP4) is a regulator of neuroinflammation. We
hypothesized that the link between lipid metabolism and inflammation indicates a role for …

Bone-resorbing activities of osteoclasts (OCs) are highly dependent on actin cytoskeleton
remodeling, plasma membrane reorganization, and vesicle trafficking pathways, which are …

Collagen VI-related disorders (COL6-RD) represent a severe form of congenital disease for
which there is no treatment. Dominant-negative pathogenic variants in the genes encoding α …