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Published in 2018 at "FEBS Letters"
DOI: 10.1002/1873-3468.13190
Abstract: Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by defects of the hydrolase glycosylasparaginase (GA). Previously, we showed that a Canadian AGU mutation disrupts an obligatory intramolecular autoprocessing with the enzyme trapped as an inactive…
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Keywords:
lysosomal storage;
storage disorder;
biochemical structural;
structural insights ... See more keywords
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Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12558
Abstract: Lysosomal storage disorders (LSDs) are inherited metabolic diseases caused by genetic defects in lysosomal enzymes or related factors. LSDs are associated with excessive accumulation of natural substrates in lysosomes leading to central nervous system and…
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Keywords:
snare;
storage disorders;
lysosomal storage;
endocytosis ... See more keywords
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Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12597
Abstract: Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these…
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Keywords:
mass spectrometry;
lysosomal storage;
storage disorders;
mass ... See more keywords
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Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12615
Abstract: Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste…
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Keywords:
therapies neurological;
storage disorders;
neurological lysosomal;
lysosomal storage ... See more keywords
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Published in 2019 at "Liver Transplantation"
DOI: 10.1002/lt.25578
Abstract: Niemann-Pick Disease (NPD) is a rare lysosomal storage disorder. Four types are identified: type A-B (NP-A and NP-B) caused by a defect of acid sphingomyelinase (ASM), and type C-D due to a defect of cholesterol…
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Keywords:
liver transplantation;
storage disorders;
lysosomal storage;
transplantation lysosomal ... See more keywords
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Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.527
Abstract: The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic…
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Keywords:
implementation gene;
lysosomal storage;
clinical implementation;
storage diseases ... See more keywords
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Published in 2019 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5547
Abstract: To evaluate the results of prenatal enzymatic diagnostic studies for detecting lysosomal storage diseases (LSDs) during 1992 to 2018.
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Keywords:
storage diseases;
lysosomal storage;
prenatal enzymatic;
enzymatic diagnosis ... See more keywords
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Published in 2022 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00893-3
Abstract: Whereas significant strides have been made in the treatment of lysosomal storage diseases (LSDs), the neuronopathy associated with these diseases remains impervious mainly because of the blood-brain barrier (BBB), which prevents delivery of large molecules…
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Keywords:
cerebrospinal fluid;
blood brain;
brain barrier;
storage diseases ... See more keywords
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Published in 2017 at "Current Treatment Options in Neurology"
DOI: 10.1007/s11940-017-0481-2
Abstract: AbstractPurpose of review Lysosomal storage disorders (LSDs) are a class of genetic disorders that are a testing ground for the invention of novel therapeutics including enzyme replacement therapy (ERT), substrate reduction therapy (SRT), gene therapy,…
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Keywords:
therapy;
storage disorders;
lysosomal storage;
gene therapy ... See more keywords
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Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2018.03.042
Abstract: Cholesterol, sphingolipids and glycerophospholipids are critical constituents of the brain, subserving neuronal membrane architecture and providing a platform for biochemical processes essential for proper neurodevelopment and function. When lysosomal defects arise in a lipid metabolic…
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Keywords:
lysosomal storage;
neurodegenerative lysosomal;
storage disorders;
brain ... See more keywords
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Published in 2021 at "Bone"
DOI: 10.1016/j.bone.2021.116237
Abstract: Mucopolysaccharidosis (MPS) I is a lysosomal storage disease characterized by deficient activity of the enzyme alpha-L-iduronidase, leading to abnormal accumulation of heparan and dermatan sulfate glycosaminoglycans in cells and tissues. Patients commonly exhibit progressive skeletal…
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Keywords:
lysosomal storage;
mucopolysaccharidosis;
disease;
bone ... See more keywords