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pick disease of the brain/phosphatase
Veza se sprema u međuspremnik
Stranica 1 iz 21 rezultatima
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.
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Very low serum levels of high density lipoprotein cholesterol ranging from 8.6 to 13.9 mg/dl were detected in four out of 12 sibs of a Brazilian kindred with the non-neuropathic form of Niemann-Pick disease. Hepatosplenomegaly, interstitial infiltration of the lungs, absence of neurological signs,
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study.
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Four siblings of a large Brazilian kindred are shown to have a variant of Niemann-Pick disease masquerading as the sea-blue histiocyte syndrome. They show a very similar clinical and laboratory picture: massive hepatosplenomegaly, low height for age, diffuse interstitial pulmonary infiltration, high
Niemann-Pick disease type C. Study on the nature of the cerebral storage process.
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A complex neuropathological study of two cases of Niemann-Pick disease (NPD) type C (NPDC) revealed some novel features in the chemical pathology of the neuronal storage. Lipid histochemistry showed the presence of a lipid which met the criteria of a neuronal glycosphingolipid. Sphingomyelin (SM)
A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism.
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Sphingomyelin is an important lipid component of cell membranes and lipoproteins that can be hydrolyzed by sphingomyelinases into ceramide and phosphorylcholine. The Type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders due to the deficient activity of the enzyme acid
Misdiagnosis of Niemann-Pick disease type C as Gaucher disease.
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Niemann-Pick disease type C (NPC) is a model for inborn errors of metabolism whose gene product mediates molecular trafficking rather than catabolizing macromolecules, as in classic lipidoses. We report the case of an infant who presented with hepatosplenomegaly without neurological abnormalities.
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis.
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We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells. This report highlights the importance of this finding as a
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis.
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We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells. This report highlights the importance of this finding as a
Studies on pyrophosphate diesterase activity in cultured human fibroblasts: a deficiency in Niemann-Pick disease.
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Fibroblast phosphodiesterase activity was studied using 4-methylumbelliferyl pyrophosphate diester as substrate. Release of the fluorogen, 4-methylumbelliferone, was found to be dependent on acid phosphatase activity, normally present in excess in crude cell extracts. Phosphodiesterase activity had
Determination of serum acid phosphatase in Gaucher's disease using 4-methylumbelliferyl phosphate.
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We describe a new assay that is useful for identifying individuals who may be affected with Gaucher's disease. The assay involves the determination of serum acid phosphatase activity using the fluorogenic substrate 4-methylumbelliferyl phosphate. The assay measures acid phosphatase activity at pH
U18666A-mediated apoptosis in cultured murine cortical neurons: role of caspases, calpains and kinases.
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Studies have suggested that cholesterol imbalance in the brain might be related to the development of neurological disorders such as Alzheimer's disease and Niemann-Pick disease type C. Previously, we have reported that U18666A, a cholesterol transport-inhibiting agent, leads to apoptosis and
Mass spectrometry imaging and LC-MS reveal decreased cerebellar phosphoinositides in Niemann-Pick type C1-null mice.
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Niemann-Pick disease, type C1 (NPC1) is a lipid storage disorder in which cholesterol and glycosphingolipids accumulate in late endosomal/lysosomal compartments because of mutations in the NPC1 gene. A hallmark of NPC1 is progressive neurodegeneration of the cerebellum as well as visceral organ
Pathogenesis of one variant of sea-blue histiocytosis.
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Hematopoietic cells from three siblings of a family with sea-blue histiocytosis were studied using in vitro cell culture techniques, histochemistry, and electron microscopy. Sphingomyelinase activities in cultured fibroblasts derived from these patients averaged 18 per cent of control levels.
Improvement of biochemical and behavioral defects in the Niemann-Pick type A mouse by intraventricular infusion of MARCKS.
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Niemann-Pick disease type A (NPDA) is a fatal disease due to mutations in the acid sphingomyelinase (ASM) gene, which triggers the abnormal accumulation of sphingomyelin (SM) in lysosomes and the plasma membrane of mutant cells. Although the disease affects multiple organs, the impact on the brain
Effects of dietary cholesterol restriction in a feline model of Niemann-Pick type C disease.
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A feline model of Niemann-Pick disease type C (NPC) was employed to evaluate the effect of dietary cholesterol restriction on progression of disease. Two NPC-affected treated cats were fed a cholesterol-restricted diet beginning at 8 weeks of age; the cats remained on the diet for 150 and 270 days
Hyperphosphorylation-induced tau oligomers.
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In normal adult brain the microtubule associated protein (MAP) tau contains 2-3 phosphates per mol of the protein and at this level of phosphorylation it is a soluble cytosolic protein. The normal brain tau interacts with tubulin and promotes its assembly into microtubules and stabilizes these
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