lysosomal storage disease
Ex Vivo Gene Therapy for Lysosomal Storage Disease Using Ipsc-Derived Neural Stem Cells
... several lysosomal storage diseases caused by genetic deficiencies in one of the many lysosomal hydrolases expressed throughout the ...prototypical lysosomal storage disease, Sly ...
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Diagnostic methods for Lysosomal Storage Disease
... Lysosomal storage disorders (LSD) are a class of metabolic disturbance in which manifested by the accumulation of large molecules (complex lipids, glycoproteins, glycosaminoglycans, ...
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Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease
... II disease is characterized by late infantile onset, short stat- ure, coarse facies, mental retardation, hyperto- nia, confluent skin lesions termed angiokera- toma corporis diffusum, and longer survival than type ...
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Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response
... We have demonstrated for the first time the pathogenic property of MPS IIIB lymphocytes, a subset of which can traffic to the CNS where they promote neuroinflamma- tion with neurological impairment. The neuropathogene- ...
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Excessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney
... display lysosomal or autophagolysosomal origin and express the lysosome-bound BMP glycerolipid, resembling the features of lysosomal storage disease and oxLDL-loaded macrophages [54, ...the ...
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Lipid and immune abnormalities causing age-dependent neurodegeneration and Parkinson’s disease
... childhood lysosomal storage disease create a dif- ferent pattern of organ and cellular failure than seen in PD and LBD, where relatively modest but sustained lipid level abnormalities create ...
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Improvement of bone mineral density after enzyme replacement therapy in Chinese late onset Pompe disease patients
... Objective: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy ...
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ENZYMES AS DRUGS: A NOVEL THERAPEUTIC APPROACH
... recessive lysosomal storage disease in which degradation of the glycosaminoglycans (GAGs) dermatan and heparan sulphate is ...heart disease and reduced life ...
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FABRY DISEASE AND TREATMENT-AN OVERVIEW
... Fabry disease (FD) is an X-linked, hereditary, lysosomal storage disease caused by deficiency of enzyme α- galactosidase A (α-Gal A), which results in accumulation of neutral glycosphingolipid ...
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Recent advances in gene therapy for lysosomal storage disorders
... Abstract: Lysosomal storage disorders (LSDs) are a group of genetic diseases that result in metabolic derangements of the ...therapy, lysosomal storage disease, blood-brain barrier, ...
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Sialic acid storage diseases A multiple lysosomal transport defect for acidic monosaccharides
... alternative routes of glucuronic acid transport exist, the disposal of uronic acids can be affected in the sialic acid storage disorders. In this study we excluded the existence of more than one acidic ...
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Trafficking of lysosomal enzymes in normal and disease states
... While the M-6-P recognition pathway is clearly important in lysosomal enzyme targeting, there must be mechanisms for localizing acid hydrolases to lysosomes independent of this recogniti[r] ...
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Autophagic and endo-lysosomal dysfunction in neurodegenerative disease
... to lysosomal problems downstream or is the LE system adaptable enough to correct itself despite endocytosis and sorting issues? Cu- mulative evidence supports the latter, suggesting that lack of LE-lysosome fusion ...
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A study of the molecular basis of the lysosomal storage disorder fucosidosis
... Ultrastructural studies of biopsies and autopsies have shown similar manifestations in most 'fiicosidosis patients. Extensive vacuolation has been found in fibroblasts, conjunctiva, peripheral nerves, liver, brain, ...
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Fucosidosis Type 2
... There was also evidence of lysosomal storage in vascular endothelium, eccrine sweat gland epithelium, and fibroblasts of the skin.. Pediatrics, 57:205-213, 1976,.[r] ...
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Hausner, Robert Michael (2008): Degenerative periphere Neuropathien bei Hund und Katze. Dissertation, LMU München: Tierärztliche Fakultät
... Die Amyotrophe Lateralsklerose, auch myatrophische Lateralsklerose oder „maladie de Charcot“ genannt, ist die häufigste degenerative Erkrankung des motorischen Reflexbogens bei Erwachsenen 67 . Sie wurde erstmals 1869 ...
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Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases
... the disease and in monitoring the efficacy of specific therapy ...Gaucher disease, chitotriosidase activity in plasma exceeded the average values by 100-400-fold com- pared to healthy persons, that is ...
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Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy
... the lysosomal proteins LAMP-1 and saposin C in dried blood spots showed no sig- nificant correlation between the concentration of each protein marker and the age of the blood spots as determined by the Pearson ...
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Importance of lysosomal cysteine proteases in lung disease
... the lysosomal compartment, such as the mite cysteine protease Derp1, to be particularly ...II-driven disease processes in the lung, such as sarcoidosis and ...
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Autophagic/lysosomal dysfunction in Alzheimer’s disease
... to lysosomal acti- ...induction, lysosomal activity was sig- nificantly reduced, suggesting that lysosomes require autophagy-associated activation for proper function ...in lysosomal functions were ...
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