Background Elucidation of the genetic factors underlying chronic liver disease may reveal
new therapeutic targets. Methods We used exome sequence data and electronic health …

Membrane fusion and fission events in intracellular trafficking are controlled by both intraluminal
Ca 2+ release and phosphoinositide (PIP) signalling. However, the molecular identities …

Mammalian two-pore channel proteins (TPC1, TPC2; TPCN1, TPCN2) encode ion channels
in intracellular endosomes and lysosomes and were proposed to mediate endolysosomal …

TRPML1 (mucolipin 1, also known as MCOLN1) is predicted to be an intracellular late endosomal
and lysosomal ion channel protein that belongs to the mucolipin subfamily of transient …

Cellular stresses trigger autophagy to remove damaged macromolecules and organelles.
Lysosomes ‘host’ multiple stress-sensing mechanisms that trigger the coordinated biogenesis …

To mediate the degradation of biomacromolecules, lysosomes must traffic towards cargo-carrying
vesicles for subsequent membrane fusion or fission. Mutations of the lysosomal Ca 2+ …

A plethora of growth factors regulate keratinocyte proliferation and differentiation that control
hair morphogenesis and skin barrier formation. Wavy hair phenotypes in mice result from …

The mucolipin family of Transient Receptor Potential (TRPML) proteins is predicted to
encode ion channels expressed in intracellular endosomes and lysosomes. Loss-of-function …

Phagocytosis of large extracellular particles such as apoptotic bodies requires delivery of
the intracellular endosomal and lysosomal membranes to form plasmalemmal pseudopods. …

Global disruption of transient receptor potential-melastatin-like 7 (Trpm7) in mice results in
embryonic lethality before embryonic day 7. Using tamoxifen-inducible disruption of Trpm7 …