Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases
bioRxiv, 2018 Perturbations in mitochondrial function and homeostasis are pervasive in lysosomal storage diseases, but the underlying mechanisms remain unknown. Here, we report a transcriptional program that represses mitochondrial biogenesis and function in lysosomal
K. F. Yambire +6 more
semanticscholar +1 more source
Nanoscale Mapping of the Subcellular Glycosylation Landscape
Advanced Science, EarlyView.Using multiplexed super‐resolution imaging with fluorophore‐labeled lectins, this study reports intracellular glycosylation at the nanoscale across organelles and synaptic specializations. Extending glycan analysis beyond the cell surface, Glyco‐STORM reveals distinct glycosylation nanodomains in the ER, Golgi, lysosomes, and synaptic sites.
Helene Gregoria Schroeter +4 more
wiley +1 more source
Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease [PDF]
, 2013 Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase.
Güngör, D. (Deniz)
core +1 more source
Reprogramming of lysosomal gene expression by interleukin-4 and Stat6. [PDF]
, 2013 BACKGROUND: Lysosomes play important roles in multiple aspects of physiology, but the problem of how the transcription of lysosomal genes is coordinated remains incompletely understood.
Bartlett, NW +9 more
core +2 more sources
NDST3‐Induced Epigenetic Reprogramming Reverses Neurodegeneration in Parkinson's Disease
Advanced Science, EarlyView.NDST3‐mediated epigenetic reprogramming revitalizes neuronal circuits in the substantia nigra and striatum to halt dopaminergic neuron degeneration and restore motor function in Parkinson's disease models. This strategy promotes neuronal maintenance and functional recovery, highlighting NDST3's therapeutic potential in neurodegenerative disorders ...
Yujung Chang +18 more
wiley +1 more source
Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease? [PDF]
, 2019 Lysosomal acid lipase (LAL) plays a key role in intracellular lipid metabolism. Reduced LAL activity promotes increased multi-organ lysosomal cholesterol ester storage, as observed in two recessive autosomal genetic diseases, Wolman disease and ...
Angelico, F +7 more
core +1 more source
Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases
Diseases, 2016 In-frame premature termination codons (PTCs) (also referred to as nonsense mutations) comprise ~10% of all disease-associated gene lesions. PTCs reduce gene expression in two ways.
K. Keeling
semanticscholar +1 more source
Advanced Science, EarlyView.This study identifies Rubicon as a key platelet protein that bidirectionally regulates GPVI and integrin αIIbβ3 signaling. Platelet Rubicon protects against cerebral ischemia‐reperfusion injury by limiting infarction without increasing hemorrhage.
Xiaoyan Chen +11 more
wiley +1 more source
The endoplasmic reticulum, not the pH gradient, drives calcium refilling of lysosomes
eLife, 2016 Impaired homeostasis of lysosomal Ca2+ causes lysosome dysfunction and lysosomal storage diseases (LSDs), but the mechanisms by which lysosomes acquire and refill Ca2+ are not known.
Abigail G Garrity +5 more
doaj +1 more source
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
core +2 more sources