Results 41 to 50 of about 40,202 (243)
Lysosomal storage disease overview [PDF]
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation ...
openaire +2 more sources
Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj +1 more source
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley +1 more source
Circulating microRNA profiles distinguish nonmalignant Lynch syndrome from cancer‐associated Lynch syndrome, sporadic colorectal cancer, and healthy controls. Age‐stratified analysis reveals disease‐specific regulatory states, and a six‐miRNA panel shows concordant separation in an independent colorectal tissue cohort.
Ramadhani Salum Chambuso +5 more
wiley +1 more source
This paper shows that size‐exclusion chromatography and sequential centrifugation applied to seminal plasma enrich for different populations of extracellular vesicles. This may significantly affect the detection and analysis of extracellular vesicle‐associated cancer biomarkers.
Elen Telumyan +8 more
wiley +1 more source
The Role of Exosomes in Lysosomal Storage Disorders
Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason +3 more
doaj +1 more source
The multifaceted roles of lysosomes in cancer
Lysosomes support cancer cell adaptation by integrating macromolecule degradation and nutrient recycling with nutrient sensing, inter‐organelle communication and immune regulation. These interconnected functions can promote tumour growth, stress tolerance and therapy resistance, while also creating context‐dependent vulnerabilities that may be ...
Jia Li, Kevin M. Ryan
wiley +1 more source
Combined Therapies for Lysosomal Storage Diseases
Lysosomal storage diseases (LSDs) is a group consisting of over 50 disorders caused mostly by dysfunctions of lysosomal proteins and resultant accumulation of particular compounds inside cells and extracellular volumes in affected organisms. Genetic diseases are among the most difficult targets for medical treatment.
Magdalena Gabig-Cimińska +8 more
openaire +3 more sources
Neuroinflammatory paradigms in lysosomal storage diseases
Lysosomal storage diseases (LSDs) include approximately 70 distinct disorders that collectively account for 14% of all inherited metabolic diseases. LSDs are caused by mutations in various enzymes/proteins that disrupt lysosomal function, which impairs ...
Megan Elizabeth Bosch, Tammy eKielian
doaj +1 more source
Modeling Lysosomal Storage Diseases in the Zebrafish
Lysosomal storage diseases (LSDs) are a family of 70 metabolic disorders characterized by mutations in lysosomal proteins that lead to storage material accumulation, multiple-organ pathologies that often involve neurodegeneration, and early mortality in ...
T. Zhang, R. T. Peterson
doaj +1 more source

