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Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation

Gene, 2013
Niemann-Pick disease (NPD) is a lysosomal storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type A and B is caused by mutations in the sphingomyelin phosphodiesterase gene (SMPD1) coding for ASM.
Ferda Özkınay   +2 more
exaly   +3 more sources

Regulation of Sphingomyelin Phosphodiesterase Acid-Like 3A Gene (SMPDL3A) by Liver X Receptors

Molecular Pharmacology, 2012
Liver X receptor (LXR) α and LXRβ function as physiological sensors of cholesterol metabolites (oxysterols), regulating key genes involved in cholesterol and lipid metabolism. LXRs have been extensively studied in both human and rodent cell systems, revealing their potential therapeutic value in the contexts of atherosclerosis and inflammatory diseases.
Paul B, Noto   +5 more
openaire   +2 more sources

Sphingomyelin phosphodiesterase 1 (SMPD1) mediates the attenuation of myocardial infarction-induced cardiac fibrosis by astaxanthin

Biochemical and Biophysical Research Communications, 2018
Uncontrolled cardiac fibrosis following myocardial infarction (MI) is a critical pathological change leading to heart failure. Current pharmacotherapies are limited by unsatisfactory efficacy and undesired systemic side effects. Astaxanthin (ASX) is a natural carotenoid with strong antioxidant and anti-inflammatory activities.
Yu, Shi   +4 more
openaire   +2 more sources

The structure and catalytic mechanism of human sphingomyelin phosphodiesterase like 3a – an acid sphingomyelinase homologue with a novel nucleotide hydrolase activity [PDF]

open access: yesFEBS Journal, 2016
Human sphingomyelinase phosphodiesterase like 3a (SMPDL3a) is a secreted enzyme that shares a conserved catalytic domain with human acid sphingomyelinase (aSMase), the enzyme carrying mutations causative of Niemann–Pick disease. We have solved the structure of SMPDL3a revealing a calcineurin‐like fold.
Lionel Trésaugues, Pär Nordlund
exaly   +4 more sources

RNA interference targeting of sphingomyelin phosphodiesterase 1 protects human granulosa cells from apoptosis

Journal of Obstetrics and Gynaecology Research, 2009
AbstractAim:  Sphingomyelin phosphodiesterase 1 (SMPD1) plays an essential role in initiating the female germ cell death signal. To evaluate whether RNA interference has potential as a new approach in germ cell protection, we tested the effect of SMPD1 knockdown on human granulosa cells in vitro.Methods:  We designed and synthesized three small ...
Jun, Gao   +4 more
openaire   +2 more sources

N-glycosylation of human sphingomyelin phosphodiesterase acid-like 3A (SMPDL3A) is essential for stability, secretion and activity

Biochemical Journal, 2017
Sphingomyelin phosphodiesterase acid-like 3A (SMPDL3A) is a recently identified phosphodiesterase, which is a secreted N-linked glycoprotein. SMPDL3A is highly homologous to acid sphingomyelinase (aSMase), but unlike aSMase cannot cleave sphingomyelin. Rather, SMPDL3A hydrolyzes nucleotide tri- and diphosphates and their derivatives.
Mathew, Traini   +5 more
openaire   +2 more sources

Expression, immunolocalization, and serological reactivity of a novel sphingomyelin phosphodiesterase-like protein, an excretory/secretory antigen from Clonorchis sinensis

Parasitology Research, 2013
Clonorchiasis, caused by Clonorchis sinensis infection, is a zoonotic parasitic disease of hepatobiliary system in which the proteins released by adult are major pathogenetic factors. In this study, we first characterized a putative sphingomyelin phosphodiesterase (CsSMPase) A-like secretory protein, which was highly expressed in the adult worm.
Yanwei, Huang   +8 more
openaire   +2 more sources

Ligand-dependent and -independent regulation of human hepatic sphingomyelin phosphodiesterase acid-like 3A expression by pregnane X receptor and crosstalk with liver X receptor

Biochemical Pharmacology, 2017
Pregnane X receptor (PXR) mainly regulates xenobiotic metabolism and detoxification. Additionally, it exerts pleiotropic effects on liver physiology, which in large parts depend on transrepression of other liver-enriched transcription factors. Based on the hypothesis that lower expression levels of PXR may reduce the extent of this inhibition, an ...
Oliver Burk   +2 more
exaly   +3 more sources

Sphingomyelin phosphodiesterase 3, a critical regulator of bone and tooth mineralization

2016
A recessive mutation called fragilitas ossium (fro) in the sphingomyelin phosphodiesterase 3 (Smpd3) gene leads to impaired mineralization of bone and tooth extracellular matrix in fro/fro mice. SMPD3 (also known as nSMase2) cleaves sphingomyelin present in the cell membrane to generate ceramide, a bioactive lipid molecule, and phosphocholine, an ...
openaire   +1 more source

[siRNAs targetting sphingomyelin phosphodiesterase 1 protect mouse oocytes from apoptosis].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University, 2011
To investigate the potential of siRNAs targeting sphingomyelin phosphodiesterase 1 (SMPD1) in protecting the oocytes from apoptosis, and explore new approaches to female fertility preservation.Chemically synthesized siRNA targeting SMPD1 were introduced into mouse oocytes retrieved by hyperstimulation, and the cell apoptosis was analyzed by comic assay
Ren-Li, Zhang   +9 more
openaire   +1 more source

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