CD163 is an endocytic receptor for haptoglobin-hemoglobin complexes and is expressed
solely on macrophages and monocytes. As a result of ectodomain shedding, the …

Objectives: The objectives of this research were:(1) to heighten awareness of Gaucher
disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of …

The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic
risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within …

Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited
deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is …

Incidence and prevalence estimates for Gaucher disease (GD) are scarce for this rare
disease and can be variable within the same region. This review provides a qualitative …

Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that
often presents in early childhood and is associated with damage to multiple organ systems …

Chronic inflammation including B-cell activation is commonly observed in both inherited
(Gaucher disease [GD]) and acquired disorders of lipid metabolism. However, the cellular …

BACKGROUND. Deep learning abdominal organ segmentation algorithms have shown
excellent results in adults; validation in children is sparse. OBJECTIVE. The purpose of this …

Young-onset dementia is a neurologic syndrome that affects behavior and cognition of
patients younger than 65 years of age. Although frequently misdiagnosed, a systematic …

In addition to their roles in normal cell physiology, endocytic processes play a key role in
many diseases. In this review, three diseases are discussed as examples of the role of …