A Rocky Ford family is sharing their story as they fight to save their young son’s life. Three-year-old Mason Matthews ...

Background This study reports on a hitherto undescribed autosomal recessive syndrome characterised by dysmorphic features and multiple congenital anomalies together with severe neurological impairment ...

Mucolipidosis IV pathology is the consequence of defective TRPML1 function and aberrant Ca 2+ signaling, and is characterized by impaired vesicle trafficking and extensive storage of granular material ...

Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway.

Quantification of cellular lipids in a reproducible and high-throughput manner is a key step in the development of therapeutics for lipid storage diseases. Niemann-Pick Disease Type C (NPC) is a ...