The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
about
Involvement of Ceramide in the Propagation of Japanese Encephalitis VirusThe p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson diseaseMultiple cationic amphiphiles induce a Niemann-Pick C phenotype and inhibit Ebola virus entry and infectionTranscription factor Bcl11b controls selection of invariant natural killer T-cells by regulating glycolipid presentation in double-positive thymocytesContrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann-Pick disease: an atypical hemangioma enhancement patternDysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion.Identifying the structure-activity relationship of leelamine necessary for inhibiting intracellular cholesterol transport.Multi-system disorders of glycosphingolipid and ganglioside metabolismExocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair.Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick diseaseAcidic sphingomyelinase controls hepatic stellate cell activation and in vivo liver fibrogenesisRegulated secretion of acid sphingomyelinase: implications for selectivity of ceramide formation.Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy.Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect.A novel mechanism of lysosomal acid sphingomyelinase maturation: requirement for carboxyl-terminal proteolytic processing.Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.Characterization of acid sphingomyelinase activity in human cerebrospinal fluidCirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood.Regulation of CC ligand 5/RANTES by acid sphingomyelinase and acid ceramidase.Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type AMolecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice.Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.Altered lipid metabolism in brain injury and disorders.Roles and regulation of secretory and lysosomal acid sphingomyelinase.Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease.Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)A systematic survey of lipids across mouse tissues.Mammalian neutral sphingomyelinases: regulation and roles in cell signaling responses.Secondary alterations of sphingolipid metabolism in lysosomal storage diseases.Drug targeting of sphingolipid metabolism: sphingomyelinases and ceramidases.Epilepsy in children--when should we think neurometabolic disease?Macrophage-related diseases of the gut: a pathologist's perspective.Genetic convergence of Parkinson's disease and lysosomal storage disorders.Sphingolipids in the DNA damage response.
P2860
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P2860
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
@en
type
label
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
@en
prefLabel
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
@en
P1476
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
@en
P2093
Schuchman EH
P2888
P304
P356
10.1007/S10545-007-0632-9
P577
2007-07-12T00:00:00Z