The primary cilium has recently stepped into the spotlight, as a flood of data show that this
organelle has crucial roles in vertebrate development and human genetic diseases. Cilia …

During the past decades neuroanatomic, neuroimaging, and clinical studies have
substantially changed the long-standing view of the role of the cerebellum as a sole …

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …

Summary Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes
are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration …

Primary cilia are essential conveyors of signals underlying major cell functions. Cerebral
cortical progenitors and neurons have a primary cilium. The significance of cilia function for …

Focal malformations of cortical development (FMCDs), including focal cortical dysplasia
(FCD) and hemimegalencephaly (HME), are major etiologies of pediatric intractable …

Protein degradation is critical to maintaining cellular homeostasis, and perturbation of the
ubiquitin proteasome system leads to the accumulation of protein aggregates. These …

In migrating neurons, the centrosome nucleates and anchors a polarized network of
microtubules that directs organelle movements. We report here that the mother centriole of …

Cilia are eukaryotic organelles essential for movement, signaling or sensing. Primary cilia
act as antennae to sense a cell's environment and are involved in a wide range of signaling …

Primary cilia are vital signaling organelles that extend from most types of cells, including
neurons and glia. These structures are essential for development of many tissues and …