Synaptic vesicle endocytosis is critical for maintaining synaptic communication during intense
stimulation. Here we describe Tweek, a conserved protein that is required for synaptic …

Disorders of lysosomal physiology have increasingly been found to underlie the pathology
of a rapidly growing cast of neurodevelopmental disorders and sporadic diseases of aging. …

Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The
combination of clinical, biochemical, and molecular genetic findings must be considered to …

Phosphoinositides are small phospholipids that control diverse cellular downstream signaling
events. Their spatial and temporal availability is tightly regulated by a set of specific lipid …

Mutations of the inositol 5′ phosphatase oculocerebrorenal syndrome of Lowe (OCRL)
give rise to the congenital X-linked disorders oculocerebrorenal syndrome of Lowe and Dent …

The VPS13 protein family constitutes a novel class of bridge‐like lipid transferases. Autosomal
recessive inheritance of mutations in VPS13 genes is associated with the development of …

During Drosophila embryogenesis, developing muscles extend growth-cone–like structures
to navigate toward specific epidermal attachment sites. Here, we show that the homolog of …

Lowe syndrome and type 2 Dent disease are caused by defects in the inositol 5-phosphatase
OCRL. Most missense mutations in the OCRL ASH-RhoGAP domain that are found in …

Glutamate receptor interacting protein (GRIP) homologues, initially characterized in synaptic
glutamate receptor trafficking, consist of seven PDZ domains (PDZDs), whose conserved …

The analysis of primary neurons is a basic requirement for many areas of neurobiology.
However, the range of commercial systems available for culturing primary neurons is functionally …