Pluripotent stem cells in disease modelling and drug discovery
Experimental modelling of human disorders enables the definition of the cellular and
molecular mechanisms underlying diseases and the development of therapies for treating …
molecular mechanisms underlying diseases and the development of therapies for treating …
[HTML][HTML] Autophagy, lipophagy and lysosomal lipid storage disorders
Autophagy is a catabolic process with an essential function in the maintenance of cellular
and tissue homeostasis. It is primarily recognised for its role in the degradation of …
and tissue homeostasis. It is primarily recognised for its role in the degradation of …
Dysregulation of autophagy as a common mechanism in lysosomal storage diseases
E Seranova, KJ Connolly, M Zatyka… - Essays in …, 2017 - portlandpress.com
The lysosome plays a pivotal role between catabolic and anabolic processes as the nexus
for signalling pathways responsive to a variety of factors, such as growth, nutrient …
for signalling pathways responsive to a variety of factors, such as growth, nutrient …
Sphingosine 1-phosphate and sphingosine kinases in health and disease: Recent advances
Sphingosine kinases (isoforms SK1 and SK2) catalyse the formation of a bioactive lipid,
sphingosine 1-phosphate (S1P). S1P is a well-established ligand of a family of five S1P …
sphingosine 1-phosphate (S1P). S1P is a well-established ligand of a family of five S1P …
[HTML][HTML] The Niemann-Pick type diseases–A synopsis of inborn errors in sphingolipid and cholesterol metabolism
FW Pfrieger - Progress in lipid research, 2023 - Elsevier
Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …
underlying mechanisms and the development of efficient therapies represent formidable …
[HTML][HTML] Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage
Niemann–Pick C (NPC) is an autosomal recessive disorder characterized by mutations in
the NPC1 or NPC2 genes encoding endolysosomal lipid transport proteins, leading to …
the NPC1 or NPC2 genes encoding endolysosomal lipid transport proteins, leading to …
[HTML][HTML] Neuronal SphK1 acetylates COX2 and contributes to pathogenesis in a model of Alzheimer's Disease
JY Lee, SH Han, MH Park, B Baek, IS Song… - Nature …, 2018 - nature.com
Although many reports have revealed the importance of defective microglia-mediated
amyloid β phagocytosis in Alzheimer's disease (AD), the underlying mechanism remains to …
amyloid β phagocytosis in Alzheimer's disease (AD), the underlying mechanism remains to …
Niemann-Pick type C disease: The atypical sphingolipidosis
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disorder resulting from
mutations in either the NPC1 (95%) or NPC2 (5%) genes. NPC typically presents in …
mutations in either the NPC1 (95%) or NPC2 (5%) genes. NPC typically presents in …
[HTML][HTML] Lysosomal and mitochondrial liaisons in Niemann-Pick disease
Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid
species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick …
species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick …
Effect of lysosomotropic molecules on cellular homeostasis
Weak bases that readily penetrate through the lipid bilayer and accumulate inside the acidic
organelles are known as lysosomotropic molecules. Many lysosomotropic compounds …
organelles are known as lysosomotropic molecules. Many lysosomotropic compounds …