After having been disregarded for a long time as inert fat drops, lipid droplets (LDs) are now
recognized as ubiquitous cellular organelles with key functions in lipid biology and beyond …

The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited
disorders in which lower extremity weakness and spasticity are the predominant symptoms …

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …

This Review summarizes recent advances in understanding copper-transporting ATPase 1
(ATP7A), and examines the neurological phenotypes associated with dysfunction of this …

Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by motor neuron
degeneration. Mutations in more than 50 human genes cause diverse types of motor neuron …

Lipid droplets (LDs) are independent organelles that are composed of a lipid ester core and
a surface phospholipid monolayer. Recent studies have revealed many new proteins …

Congenital generalized lipodystrophy (CGL) is a heterogeneous autosomal recessive
disorder characterized by a near complete lack of adipose tissue from birth and, later in life …

The identification of genes involved in health and disease remains a challenge. We describe
a bioinformatics approach, together with a freely accessible, interactive and flexible software …

Lipid droplets (LDs) store lipids and hence serve as energy reservoir and as a source for
building-blocks for the organelle membrane systems. LD biology therefore depends on tight …