Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Macroautophagy is an evolutionarily conserved process that delivers diverse cellular
contents to lysosomes for degradation. As our understanding of this pathway grows, so does …

Macroautophagy is a conserved catabolic process observed in all eukaryotic cells, during
which selected cellular components are transported to and broken down within lysosomes …

The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Abstract PI3K-AKT/mTOR signaling pathway represents an essential signaling mechanism
for mammalian enzyme-related receptors in transducing signals or biological processes …

Single gene disorders of the autophagy pathway are an emerging, novel and diverse group
of multisystem diseases in children. Clinically, these disorders prominently affect the central …

Beside inherited muscle diseases many catabolic conditions such as insulin resistance,
malnutrition, cancer growth, aging, infections, chronic inflammatory status, inactivity, obesity …

Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …

Cellular trafficking is essential to maintain critical biological functions. Mutations in 346
genes, most of them described in the last 5 years, are associated with disorders of cellular …

Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of
individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal …