Results 81 to 90 of about 31,581 (280)
Journal of Inborn Errors of Metabolism and Screening, 2016 Lysosomal storage disorders are rare genetic disorders due to deficient lysosomal activity, which leads to progressive accumulation of nonmetabolized substrates.
Saida Ortolano PhD
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Advanced Science, EarlyView.An intracellular magneto‐mechanical platform utilizing MSC‐targeted nanomotors is developed. After intra‐articular delivery, these nanomotors target endogenous BMSCs and are actuated within lysosomes to execute trans‐planar rotational‐bouncing motions under a rotating‐fluctuating 3D magnetic field, generating amplified mechanical stimulation.
Zhenguang Li +7 more
wiley +1 more source
Designer Dynamic DNA Nanoaggregate in Living Cell for Mitochondrial Energy Restriction
Advanced Science, EarlyView.This study presents the Tech‐tetrahedron, a designer dynamic DNA nanoaggregate engineered for precise mitochondrial energy restriction. Its trinity‐functionalized design integrates navigable unit, telomerase‐activated latch, and self‐assembly module.
Ruijia Deng +12 more
wiley +1 more source
Lysosomal storage disorders: Molecular basis and laboratory testing
Human Genomics, 2011 Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from the defective function of specific lysosomal enzymes and, in cases, of non-enzymatic lysosomal ...
Filocamo Mirella, Morrone Amelia
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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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FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis - Fig 2
, 2020 A: Orphan drug designations granted by the FDA for compounds intended to treat lysosomal storage disorders by year and specific disease. B: Orphan drug designations granted by the FDA for compounds intended to treat lysosomal storage disorders by year ...
Sven F. Garbade (3700849) +7 more
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Hemoglobin's α‐Helix‐to‐β‐Sheet Transition Enables Targeted mRNA Delivery to the Lung
Advanced Science, EarlyView.Acidic heating converts hemoglobin into β‐sheet‐rich fibrils with positively charged surfaces. These hemoglobin fibrils electrostatically complex IL‐11 scFv mRNA, selectively bind circulating platelets, and hitchhike to the lung, where they are enriched in fibroblasts.
Xihua Liu +11 more
wiley +1 more source
High lumenal chloride in the lysosome is critical for lysosome function
eLife, 2017 Lysosomes are organelles responsible for the breakdown and recycling of cellular machinery. Dysfunctional lysosomes give rise to lysosomal storage disorders as well as common neurodegenerative diseases.
Kasturi Chakraborty +2 more
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TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain
Advanced Science, EarlyView.TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando +2 more
wiley +1 more source
International Journal of Neonatal ScreeningNewborn screening laboratories are increasingly adding lysosomal storage disorders (LSDs), such as Mucopolysaccharidosis I (MPS I) and Pompe disease, to their screening panels. Without newborn screening, LSDs are frequently diagnosed only after the onset
Lacey Vermette, Jon Washburn, Tracy Klug
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