Results 21 to 30 of about 40,385 (227)
Exacerbating and reversing lysosomal storage diseases: from yeast to humans [PDF]
, 2017 Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion.
Tamayanthi Rajakumar +2 more
core +1 more source
Heliyon, 2021 Mucopolysaccharidoses (MPSs) are a heterogeneous group of diseases that have in common the accumulation of glycosaminoglycans (mucopolysaccharides) within the lysosome.
Luis M. Carbajal-Rodríguez +4 more
doaj +1 more source
CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]
Romanian Journal of Pediatrics, 2017 Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
doaj +1 more source
Heliyon, 2022 Lysosomal biogenesis is an essential adaptive process by which lysosomes exert their function in maintaining cellular homeostasis. Defects in lysosomal enzymes and functions lead to lysosome-related diseases, including lysosomal storage diseases and ...
Xiao Ding +11 more
doaj +1 more source
Cells, 2021 Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...]
Ritva Tikkanen
doaj +1 more source
The rapidly evolving view of lysosomal storage diseases
EMBO Molecular Medicine, 2021 Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex ...
Giancarlo Parenti +2 more
doaj +1 more source
Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases [PDF]
, 2013 Lysosomal storage diseases are inherited metabolic disorders caused by genetic defects causing deficiency of various lysosomal proteins, and resultant accumulation of non-degraded compounds.
Grzegorz Węgrzyn +11 more
core +1 more source
Neuroinflammatory paradigms in lysosomal storage diseases
Frontiers in Neuroscience, 2015 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
Frontiers in Molecular Biosciences, 2020 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
Synaptic Function and Dysfunction in Lysosomal Storage Diseases
Frontiers in Cellular Neuroscience, 2021 Lysosomal storage diseases (LSDs) with neurological involvement are inherited genetic diseases of the metabolism characterized by lysosomal dysfunction and the accumulation of undegraded substrates altering glial and neuronal function.
Rima Rebiai +5 more
doaj +1 more source