The rapidly evolving view of lysosomal storage diseases
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …
several components of lysosomal function. Most commonly affected are lysosomal …
Transient receptor potential channels as drug targets: from the science of basic research to the art of medicine
The large Trp gene family encodes transient receptor potential (TRP) proteins that form
novel cation-selective ion channels. In mammals, 28 Trp channel genes have been …
novel cation-selective ion channels. In mammals, 28 Trp channel genes have been …
Lysosomal size matters
Lysosomes are key cellular catabolic centers that also perform fundamental metabolic,
signaling and quality control functions. Lysosomes are not static and they respond …
signaling and quality control functions. Lysosomes are not static and they respond …
Autophagy in lysosomal storage disorders
AP Lieberman, R Puertollano, N Raben… - Autophagy, 2012 - Taylor & Francis
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play
crucial roles in cellular clearance. Numerous functions depend on normal lysosomes …
crucial roles in cellular clearance. Numerous functions depend on normal lysosomes …
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression
CD Davidson, NF Ali, MC Micsenyi, G Stephney… - PloS one, 2009 - journals.plos.org
Background Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder
caused most commonly by a defect in the NPC1 protein and characterized by widespread …
caused most commonly by a defect in the NPC1 protein and characterized by widespread …
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 …
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease
Lysosomes are cell organelles that degrade macromolecules to recycle their components. If
lysosomal degradative function is impaired, eg, due to mutations in lysosomal enzymes or …
lysosomal degradative function is impaired, eg, due to mutations in lysosomal enzymes or …
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease
CH Vite, JH Bagel, GP Swain, M Prociuk… - Science translational …, 2015 - science.org
Niemann-Pick type C1 (NPC) disease is a lysosomal storage disease caused by mutations
in the NPC1 gene, leading to an increase in unesterified cholesterol and several …
in the NPC1 gene, leading to an increase in unesterified cholesterol and several …
The role of TRPMLs in endolysosomal trafficking and function
Abstract Members of the Transient Receptor Potential-Mucolipin (TRPML) constitute a family
of evolutionarily conserved cation channels that function predominantly in endolysosomal …
of evolutionarily conserved cation channels that function predominantly in endolysosomal …
Neuronal soma-derived degradative lysosomes are continuously delivered to distal axons to maintain local degradation capacity
Neurons face the challenge of maintaining cellular homeostasis through lysosomal
degradation. While enzymatically active degradative lysosomes are enriched in the soma …
degradation. While enzymatically active degradative lysosomes are enriched in the soma …