Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

Loss of functional β-cell mass is the key mechanism leading to the two main forms of
diabetes mellitus—type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) …

Diabetes mellitus is characterized by the failure of insulin-secreting pancreatic β-cells (or β-
cell death) due to either autoimmunity (type 1 diabetes mellitus) or failure to compensate for …

A central mechanism regulating translation initiation in response to environmental stress
involves phosphorylation of the α subunit of eukaryotic initiation factor 2 (eIF2α) …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

Like all the cells of an organism, pancreatic β-cells originate from embryonic stem cells
through a complex cellular process termed differentiation. Differentiation involves the …

Insulin synthesis in pancreatic β‐cells is initiated as preproinsulin. Prevailing glucose
concentrations, which oscillate pre‐and postprandially, exert major dynamic variation in …

Background Pancreatic β cell dysfunction and death are central in the pathogenesis of most
if not all forms of diabetes. Understanding the molecular mechanisms underlying β cell …

Cells must be able to cope with the challenge of folding newly synthesized proteins and
refolding those that have become misfolded in the context of a crowded cytosol. One such …