|1.||Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
|2.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
|3.||Type B Niemann-Pick Disease
|4.||Type A Niemann-Pick Disease
|5.||Niemann-Pick Diseases (Niemann Pick Disease)
|1.||Schuchman, Edward H: 5 articles (03/2014 - 04/2009)|
|2.||Ledesma, Maria Dolores: 3 articles (01/2015 - 01/2009)|
|3.||Prinetti, Alessandro: 3 articles (09/2011 - 04/2009)|
|4.||Sonnino, Sandro: 3 articles (09/2011 - 04/2009)|
|5.||Muro, Silvia: 2 articles (05/2015 - 08/2014)|
|6.||Rappaport, Jeff: 2 articles (05/2015 - 08/2014)|
|7.||Garnacho, Carmen: 2 articles (05/2015 - 08/2014)|
|8.||Van Veldhoven, Paul P: 2 articles (03/2014 - 01/2009)|
|9.||Camoletto, Paola G: 2 articles (03/2014 - 01/2009)|
|10.||Giustetto, Maurizio: 2 articles (03/2014 - 01/2009)|
|1.||Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA
06/22/1987 - "A similar procedure was applied to the separate study of placental sphingomyelinase from two prenatally diagnosed foetuses with confirmed Niemann-Pick disease type A. "
04/18/1984 - "To investigate the involvement of lysosomes in the degradation of cellular membrane sphingomyelin, we have undertaken studies to compare the turnover of plasma membrane sphingomyelin in fibroblasts from a patient with type A Niemann-Pick disease, which completely lack acid sphingomyelinase activity but retain nonlysosomal neutral sphingomyelinase activity, with turnover in fibroblasts from normal individuals. "
01/01/2015 - "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. "
06/01/2014 - "Niemann Pick disease type A (NPA), which is caused by loss of function mutations in the acid sphingomyelinase (ASM) gene, is a lysosomal storage disorder leading to neurodegeneration. "
09/10/2013 - "Niemann-Pick disease type A and B is caused by mutations in the sphingomyelin phosphodiesterase gene (SMPD1) coding for ASM. "
|2.||NF-kappa B (NF-kB)IBA
12/01/2003 - "Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K."
09/30/1991 - "Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A."
10/01/2006 - "Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann-Pick disease type A/B) and Niemann-Pick disease type C (NPC) can be challenging. "
09/01/1987 - "Clinical, morphological, and biochemical findings suggest that this cat had sphingomyelin lipidosis similar to human Niemann-Pick disease type A, and that feline sphingomyelin lipidosis provides another model of human lysosomal storage disease."
10/09/1980 - "A generalized severe sphingomyelinase deficiency was observed in all cases with Niemann-Pick disease type A or B, while in Niemann-Pick disease type C, sphingomyelinase activities were normal in leukocytes, elevated in liver tissue and partially deficient in cultivated skin fibroblasts. "
|4.||neodymium pyrocatechin disulfonate (NPD)IBA
10/21/2008 - "Acid SMase (ASMase) deficiency results in the lipid storage disease type A Niemann-Pick disease (NPD-A), mimicked in mice by interruption of the ASMase gene. "
06/03/2008 - "We describe three patients with type A Niemann-Pick disease (NPD-A). "
01/24/2006 - "To describe the disease course and natural history of Type A Niemann-Pick disease (NPD). "
05/04/2015 - "However, the lysosomal defect in these diseases can affect endocytosis, as we recently demonstrated for clathrin-mediated uptake in patient fibroblasts with type A Niemann-Pick disease (NPD), a disorder characterized by acid sphingomylinase (ASM) deficiency and subsequent sphingomyelin storage. "
11/01/2012 - "Niemann-Pick disease (NPD) is a neurovisceral lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency, which can be categorized as either Niemann-Pick disease type A [NPD-A], with progressive neurological disease and death in early childhood, or as Niemann-Pick disease type B [NPD-B], with a more variable spectrum of manifestations. "
|5.||DNA (Deoxyribonucleic Acid)IBA
08/02/2000 - "In case at risk for Niemann-Pick disease type A, the diagnosis was confirmed also by DNA analysis. "
11/01/2009 - "DNA from 31 cell lines, representing many of the common alleles for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, Gaucher disease, and glycogen storage disease, was prepared by the Repository and tested in six clinical laboratories using three different PCR-based assay platforms. "
06/20/1995 - "Sphingosylphosphocholine, a signaling molecule which accumulates in Niemann-Pick disease type A, stimulates DNA-binding activity of the transcription activator protein AP-1."
01/01/2009 - "Acid sphingomyelinase knockout mice (ASMko) are a suitable model to address the role of sphingolipids in synaptic regulation as they recapitulate a mental retardation syndrome, Niemann Pick disease type A (NPA), and their neurons have altered levels of sphingomyelin (SM) and its derivatives. "
04/01/2009 - "Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A."
|7.||LDL Receptors (LDL Receptor)IBA
04/01/1991 - "The cell association and catabolism of these SPM analogues by normal, Niemann-Pick-disease-Type-A and low-density-lipoprotein (LDL)-receptor-negative familial hypercholesterolaemia fibroblasts were investigated and compared with the metabolism of [cholinemethyl-14C]sphingomyelin. "
07/25/1991 - "The metabolism of sphingomyelin (SPM) was investigated in Epstein-Barr virus-transformed lymphoid cell lines from normal individuals and from patients with Niemann-Pick disease Type A (deficient in the acid, lysosomal sphingomyelinase) and familial hypercholesterolemia (lacking the low density lipoprotein receptor). "
01/01/2013 - "Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders."
10/01/2006 - "Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C."
|9.||Phospholipases A2 (Phospholipase A2)IBA
12/01/2015 - "We covered an introduction to sphingomyelinases and its enzymatic product ceramide, in membrane domains or lipid rafts and the nucleus; followed by crosstalk between sphingomyelinase and cytosolic phospholipase A2 (cPLA2) catalysed products including arachidonic acid, functions of acid sphingomyelinase (aSMase) and neutral sphingomyelinase (N-SMase) in neurons, neuronal progenitor cells, glial cells, and brain endothelial cells; alterations in acid and N-SMases in Niemann Pick Disease Type A, major depression, Alzheimer's disease, cerebral ischemia, and pain; and recent developments in identification of inhibitors to sphingomyelinases. "
|10.||Transcription Factor AP-1 (Transcription Factor AP 1)IBA
|1.||Transplantation (Transplant Recipients)
11/24/2004 - "In the present study, we evaluated the effects of direct intracerebral transplantation of neural progenitor cells (NPCs) on the brain storage pathology in the ASM knock-out (ASMKO) mouse model of Type A Niemann-Pick disease. "
01/01/1977 - "Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A."
|2.||Induced Abortion (Induced Abortions)
|3.||Cord Blood Stem Cell Transplantation
|4.||Hematopoietic Stem Cell Transplantation