The mammalian NLR gene family was first reported over 20 years ago, although several
genes that were later grouped into the family were already known at that time. Although it is …

Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive,
neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor …

The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a
highly challenging endeavor, but also led to one of the most successful stories in …

Twenty-five years ago, the underlying genetic cause for one of the most common and
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …

Inflammasomes are a set of intracellular protein complexes that enable autocatalytic
activation of inflammatory caspases, which drive host and immune responses by releasing …

Nucleotide binding oligomerization domain (NOD)-like receptors are cytoplasmic pattern-
recognition receptors that together with RIG-I-like receptor (retinoic acid-inducible gene 1) …

The innate immune system relies on its capacity to rapidly detect invading pathogenic
microbes as foreign and to eliminate them. The discovery of Toll-like receptors (TLRs) …

In multicellular organisms, homeostasis is maintained through a balance between cell
proliferation and cell death. Although much is known about the control of cell proliferation …

Inhibitors of programmed cell death (apoptosis) aberrantly prolonging cell viability may
contribute to cancer1 by facilitating the insurgence of mutations and by promoting resistance …

SMN1 and SMN2 (survival motor neuron) encode identical proteins. A critical question is
why only the homozygous loss of SMN1, and not SMN2, results in spinal muscular atrophy …