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SMPD1 gene

Known as: SPHINGOMYELINASE, ACID, acid sphingomyelinase, sphingomyelin phosphodiesterase 1 
This gene plays a role in ceramide metabolism.
National Institutes of Health

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HydrolysisPhospholipid MetabolismSMPD3 geneSPHINGOMYELINASE

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SMPD1 wt Allele

Papers overview

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2017
2017
Decreasing SMPD1 activity in BEAS-2B bronchial airway epithelial cells results in increased NRF2 activity, cytokine synthesis and neutrophil recruitment.
2015
2015
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease
Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity… 
2015
2015
Association study between SMPD1 p.L302P and sporadic Parkinson's disease in ethnic Chinese population.
PURPOSE The protein encoded by sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1) is a lysosomal acid sphingomyelinase… 
Review
2014
Review
2014
Genes associated with low serum high-density lipoprotein cholesterol.
Atherosclerosis is the main cause of death in the world through causing ischemic heart disease (IHD). Altered serum lipid level… 
Review
2004
Review
2004
Genetic determinants of low high-density lipoprotein cholesterol
Purpose of review High-density lipoprotein cholesterol (HDL-C) has been well established as an inverse predictor of coronary… 
1999
1999
Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the…
The general utility of a novel, fluorescence-based procedure for assessing gene transfer and expression has been demonstrated… 
1995
1995
Two new mutations in the acid sphingomyelinase gene causing type a Niemann–Pick disease: N389T and R441X
Types A and B Niemann-Pick disease (NPD) result from the inherited deficiency of acid sphingomyelinase (ASM) activity and the… 
1993
1993
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease
1992
1992
Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene.
The cDNA and complete gene encoding mouse acid sphingomyelinase (ASM) has been isolated using a homology screening approach… 
1991
1991
An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1).
Protocol: To detect the 506 polymorphism, a 567 bp SMPD1 genomic fragment is amplified using sense (5… 
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