SMPD1 gene

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

Topic mentions per year

Topic mentions per year

1987-2017
05101519872017

Papers overview

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Review
2015
Review
2015
The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam… (More)
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2013
2013
To investigate the role of mutations in the sphingomyelin phosphodiesterase (SMPD1) gene in Parkinson's disease (PD) we sequenced… (More)
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Highly Cited
2010
Highly Cited
2010
Heat shock protein 70 (Hsp70) is an evolutionarily highly conserved molecular chaperone that promotes the survival of stressed… (More)
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2009
2009
Niemann-Pick disease (NPD) types A/B are both caused by a deficiency of lysosomal acid sphingomyelinase and display autosomal… (More)
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2007
2007
Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin… (More)
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2006
2006
Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). Here, we… (More)
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2005
2005
Niemann Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid… (More)
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2003
2003
Type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders caused by deficient activity of the enzyme acid… (More)
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1991
1991
Human acid sphingomyelinase (SMPD1) is the lysosomal phosphodiesterase that cleaves sphingomyelin to ceramide and phosphocholine… (More)
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1991
1991
Protocol: To detect the 506 polymorphism, a 567 bp SMPD1 genomic fragment is amplified using sense (5… (More)
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