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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

Papers overview

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2018
2018
Multiple Sclerosis (MuS) is a complex multifactorial neuropathology, resulting in heterogeneous clinical presentation. A very… Expand
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2017
2017
INTRODUCTION A founder mutation, p.L302P, in sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), causing Niemann-Pick… Expand
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2015
2015
INTRODUCTION Parkinson disease is noted for its association with mutations in GBA and the p.G2019S mutation in LRRK2. This study… Expand
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2013
2013
BackgroundClinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase… Expand
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Review
2011
Review
2011
Severe neurological involvement characterizes Niemann Pick disease (NPD) type A, an inherited disorder caused by loss of function… Expand
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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… Expand
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2010
2010
Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM), due to mutations in… Expand
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2007
2007
Ceramide has been shown by many studies to induce apoptosis. Therefore, upregulation of ceramide is discussed as a novel approach… Expand
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1996
1996
Glycosylation plays a crucial role in glycoprotein stability and its correct folding. Murine acid sphingomyelinase (ASM) is a… Expand
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