Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autosomal recessive steroid-resistant nephrotic syndrome, which is characterized by early childhood onset of proteinuria, rapid progression to end-stage renal disease and focal segmental glomerulosclerosis. A causative gene for this disease, NPHS2, was mapped to 1q25-31 and we report here its identification by positional cloning. NPHS2 is almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral membrane protein, podocin, belonging to the stomatin protein family. We found ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier.

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Among organelles, lipid droplets (LDs) uniquely constitute a hydrophobic phase in the aqueous environment of the cytosol. Their hydrophobic core of neutral lipids stores metabolic energy and membrane components, making LDs hubs for lipid metabolism. In addition, LDs are implicated in a number of other cellular functions, ranging from protein storage and degradation to viral replication. These processes are functionally linked to many physiological and pathological conditions, including obesity and related metabolic diseases. Despite their important functions and nearly ubiquitous presence in cells, many aspects of LD biology are unknown. In the past few years, the pace of LD investigation has increased, providing new insights. Here, we review the current knowledge of LD cell biology and its translation to physiology.

Lipid Droplets and Cellular Lipid Metabolism

Lipid droplets form the main lipid store in eukaryotic cells. Although all cells seem to be able to generate lipid droplets, their biogenesis, regulatory mechanisms and interactions with other organelles remain largely elusive. In this article, we outline some of the recent developments in lipid droplet cell biology. We show the mobile and dynamic nature of this organelle, and advocate the adoption of a unified nomenclature to consolidate terminology in this emerging field.

Lipid droplets: a unified view of a dynamic organelle

Thematic review series: adipocyte biology. The perilipin family of structural lipid droplet proteins: stabilization of lipid droplets and control of lipolysis.

Thematic review series: glycerolipids. DGAT enzymes and triacylglycerol biosynthesis.

https://espace.library.uq.edu.au/view/UQ:73457/UQ73457_OA.pdf

Association of stomatin with lipid bodies.

Oligomeric Nature of the Integral Membrane Protein Stomatin

Association of stomatin with lipid-protein complexes in the plasma membrane and the endocytic compartment.

https://febs.onlinelibrary.wiley.com/doi/pdf/10.1016/S0014-5793%2899%2900417-2

Ellen Umlauf

Papers

Association of stomatin with lipid bodies.

Oligomeric Nature of the Integral Membrane Protein Stomatin

Association of stomatin with lipid-protein complexes in the plasma membrane and the endocytic compartment.

Cysteine 29 is the major palmitoylation site on stomatin.

Characterization of the Stomatin Domain Involved in Homo-oligomerization and Lipid Raft Association