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Normalization of hepatic homeostasis in the Npc1nmf164 mouse model of Niemann-Pick type C disease treated with the histone deacetylase inhibitor vorinostat [PDF]
, 2017 al, et, Ory, Daniel S.
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The FEBS Journal, EarlyView.Iduronate 2‐sulfatase (IDS; purple) is expressed as a precursor protein that goes through multiple steps of maturation, modification, and trafficking to become an active lysosomal enzyme that degrades glycosaminoglycans. Our study shows that the transmembrane ubiquitin ligases RNF13 (orange) and RNF167 (pink) heterodimerize, affecting IDS intracellular
Valérie C. Cabana +4 more
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Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
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The FEBS Journal, EarlyView.Exercise‐related microRNAs cel‐miR‐249‐3p and cel‐miR‐77‐5p in C. elegans regulate lifespan, fitness, mitochondrial morphology and membrane potential. Although lacking direct mammalian orthologs, H2O2‐induced microRNAs mmu‐miR‐181a‐5p and mmu‐miR‐378a‐3p regulate myogenesis, autophagy, mitochondrial content and respiration in murine myoblasts ...
Qin Xia +7 more
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The FEBS Journal, EarlyView.The extracellular matrix (ECM) is a dynamic scaffold that orchestrates tissue architecture and cellular communication. A critical but underexplored interplay between proteases and cluster of differentiation molecules (CD) governs ECM turnover and directs cell fate.
David Jurnečka +3 more
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Nature Reviews Disease Primers, 2018 Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur.
Frances M Platt +2 more
exaly +4 more sources
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Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by dysfunction of the lysosomal system, with subsequent progressive accumulation of macromolecules, activation of inflammatory response, and cell death. Neurologic damage is almost always present, and it is usually degenerative.
Alessandro P, Burlina +2 more
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Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by dysfunction of the lysosomal system, with subsequent progressive accumulation of macromolecules, activation of inflammatory response, and cell death. Neurologic damage is almost always present, and it is usually degenerative.
Alessandro P, Burlina +2 more
+6 more sources
Neuropathology and Applied Neurobiology, 1978
The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroid‐lipofuscinoses, a heterogeneous group of diseases
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The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroid‐lipofuscinoses, a heterogeneous group of diseases
openaire +2 more sources