Caspase-9, a cysteine-aspartic protease known for its role as an initiator of intrinsic
apoptosis, regulates physiological cell death and pathological tissue degeneration. Its …

Ion channelopathies are a diverse array of human disorders caused by mutations in ion
channel genes. This review focuses on the pathogenic mechanisms of channelopathies …

We describe a severe form of congenital myasthenic syndrome (CMS) caused by two
heteroallelic mutations: a nonsense and a missense mutation in the gene encoding agrin …

Muscle channelopathies are caused by mutations in ion channel genes, by antibodies
directed against ion channel proteins, or by changes of cell homeostasis leading to aberrant …

Muscle‐fiber loss is a characteristic of many progressive neuromuscular disorders. Over the
past decade, identification of a growing number of apoptosis‐associated factors and events …

The atrophy of skeletal muscles in patients with Krabbe disease is a major debilitating
manifestation that worsens their quality of life and limits the clinical efficacy of current …

Ca2+ release from internal stores is critical for mediating both normal and pathological
intracellular Ca2+ signaling. Recent studies suggest that the inositol 1, 4, 5-triphosphate …

Ion channelopathies are caused by malfunction or altered regulation of ion channel proteins
due to hereditary or acquired protein changes. In neurology, main phenotypes include …

Cav2. 1 channels mediate neurotransmitter release at the neuromuscular junction (NMJ)
and at many central synapses. Mutations in the encoding gene, CACNA1A, are thus likely to …

The slow-channel myasthenic syndrome (SCS) is a hereditary disorder of the acetylcholine
receptor (AChR) of the neuromuscular junction (NMJ) that leads to prolonged AChR channel …