Results 41 to 50 of about 2,604,703 (185)
Stop-codon read-through for patients affected by a lysosomal storage disorder
, 2006 Lysosomal storage disorders are a group of inherited diseases that can result in severe and progressive pathology due to a specific lysosomal dysfunction.
Muller, V., Hopwood, J., Brooks, D.
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Loss of Niemann-Pick C1 or C2 protein results in similar biochemical changes suggesting that these proteins function in a common lysosomal pathway. [PDF]
PLoS ONE, 2011 Niemann-Pick Type C (NPC) disease is a lysosomal storage disorder characterized by accumulation of unesterified cholesterol and other lipids in the endolysosomal system.
Sayali S Dixit +5 more
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Lysosomal Storage Diseases-Regulating Neurodegeneration
, 2015 Autophagy is a complex pathway regulated by numerous signaling events that recycles macromolecules and can be perturbed in lysosomal storage diseases (LSDs). The concept of LSDs, which are characterized by aberrant, excessive storage of cellular material
Jay E. Brenman, Rob U. Onyenwoke
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, 2003 Lysosomal storage disorders are collectively important because they cause significant morbidity and mortality. Patients can present with severe symptoms that include somatic tissue and bone pathology, developmental delay and neurological impairment ...
Kakavanos, R., Hopwood, J., Brooks, D.
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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
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Gaucher disease: achievements and prospects
Терапевтический архив, 2021 Gaucher disease (GD) is the most common lysosomal storage disorder, resulting from a deficiency in the activity of a lysosomal enzyme glucocerebrosidase, which is involved in the catabolism of sphingolipids.
Rodion V. Ponomarev, Elena A. Lukina
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Neurobiology of Disease, 2017 Saposin deficiency is a childhood neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of life.
Samantha J. Hindle +4 more
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Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides [PDF]
The Ukrainian Biochemical Journal, 2015 Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete failure
N. Y. Mytsyk +2 more
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Lysosomal storage disease : revealing lysosomal function and physiology
, 2010 The discovery over five decades ago of the lysosome, as a degradative organelle and its dysfunction in lysosomal storage disorder patients, was both insightful and simple in concept.
Parkinson-Lawrence, E. +5 more
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Therapeutic Approaches in Lysosomal Storage Diseases
, 2021 Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants, which affect the proteins involved in lysosomal function and cellular metabolism.
Julián Fernández-Martín +7 more
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