Results 31 to 40 of about 4,601 (147)

Porcine reproductive and respiratory syndrome virus upregulates SMPDL3B to promote viral replication by modulating lipid metabolism

iScience, 2023
Summary: Porcine reproductive and respiratory syndrome virus (PRRSV) poses a severe threat to the health of pigs globally. Host factors play a critical role in PRRSV replication.
Huan-Huan Shen, Qin Zhao, Yi-Ping Wen, Rui Wu, Sen-Yan Du, Xiao-Bo Huang, Xin-Tian Wen, San-Jie Cao, Lei Zeng, Qi-Gui Yan   +9 more
doaj   +1 more source

Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease. [PDF]

JIMD Rep, 2012
Niemann-Pick disease (NPD) types A and B are autosomal recessive disorders caused by acid sphingomyelinase (ASM) deficiency due to mutation in the sphingomyelin phosphodiesterase 1 gene (SMPD1). Although a number of SMPD1 mutations were reported, expression studies were performed for only a small number of missense mutations.
Tóth B, Erdős M, Székely A, Ritli L, Bagossi P, Sümegi J, Maródi L.   +6 more
europepmc   +4 more sources

Characterization of the small molecule ARC39, a direct and specific inhibitor of acid sphingomyelinase in vitro[S]

Journal of Lipid Research, 2020
Inhibition of acid sphingomyelinase (ASM), a lysosomal enzyme that catalyzes the hydrolysis of sphingomyelin into ceramide and phosphorylcholine, may serve as an investigational tool or a therapeutic intervention to control many diseases.
Eyad Naser, Stephanie Kadow, Fabian Schumacher, Zainelabdeen H. Mohamed, Christian Kappe, Gabriele Hessler, Barbara Pollmeier, Burkhard Kleuser, Christoph Arenz, Katrin Anne Becker, Erich Gulbins, Alexander Carpinteiro   +11 more
doaj   +1 more source

The nSMase2/Smpd3 gene modulates the severity of muscular dystrophy and the emotional stress response in mdx mice

BMC Medicine, 2020
Background Duchenne muscular dystrophy (DMD) is a progressive, degenerative muscular disorder and cognitive dysfunction caused by mutations in the dystrophin gene.
Yasunari Matsuzaka, Jun Tanihata, Yoshiko Ooshima, Daisuke Yamada, Masayuki Sekiguchi, Shouta Miyatake, Yoshitsugu Aoki, Mika Terumitsu, Ryu Yashiro, Hirofumi Komaki, Akihiko Ishiyama, Yasushi Oya, Yukiko U. Inoue, Takayoshi Inoue, Shin’ichi Takeda, Kazuo Hashido   +15 more
doaj   +1 more source

Structural Basis of the Sphingomyelin Phosphodiesterase Activity in Neutral Sphingomyelinase from Bacillus cereus [PDF]

Journal of Biological Chemistry, 2006
Sphingomyelinase (SMase) from Bacillus cereus (Bc-SMase) hydrolyzes sphingomyelin to phosphocholine and ceramide in a divalent metal ion-dependent manner. Bc-SMase is a homologue of mammalian neutral SMase (nSMase) and mimics the actions of the endogenous mammalian nSMase in causing differentiation, development, aging, and apoptosis.
Hideo, Ago, Masataka, Oda, Masaya, Takahashi, Hideaki, Tsuge, Sadayuki, Ochi, Nobuhiko, Katunuma, Masashi, Miyano, Jun, Sakurai   +7 more
openaire   +2 more sources

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

Frontiers in Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene.
Maria Judit Molnar, Maria Judit Molnar, Tamas Szlepak, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi   +8 more
doaj   +1 more source

SMPDL3b modulates insulin receptor signaling in diabetic kidney disease

Nature Communications, 2019
Sphingomyelin phosphodiesterase acid-like 3b (SMPDL3b) is a lipid raft enzyme known to affect membrane lipid composition. Here, Mitrofanova et al. show that increased expression of SMPDL3b in diabetes impairs insulin signaling and ceramide-1-phosphate ...
A. Mitrofanova, S. K. Mallela, G. M. Ducasa, T. H. Yoo, E. Rosenfeld-Gur, I. D. Zelnik, J. Molina, J. Varona Santos, M. Ge, A. Sloan, J. J. Kim, C. Pedigo, J. Bryn, I. Volosenco, C. Faul, Y. H. Zeidan, C. Garcia Hernandez, A. J. Mendez, I. Leibiger, G. W. Burke, A. H. Futerman, L. Barisoni, Y. Ishimoto, R. Inagi, S. Merscher, A. Fornoni   +25 more
doaj   +1 more source

Abnormalities of Sphingolipids Metabolic Pathways in the Pathogenesis of Psoriasis

Metabolites, 2023
Psoriasis is immune-mediated skin disorder affecting thousands of people. Sphingolipids (SLs) are bioactive molecules present in the epidermis, involved in the following cellular processes: proliferation, differentiation, and apoptosis of keratinocytes ...
Beatriz Burger, Roberta Nicolli Sagiorato, Isabella Cavenaghi, Hosana Gomes Rodrigues   +3 more
doaj   +1 more source

Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

Journal of Lipid Research, 2014
Acid sphingomyelinase (ASMase)-deficient Niemann-Pick disease (NPD) is caused by mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, resulting in accumulation of sphingomyelin in the lysosomes and secondary changes in cholesterol metabolism.
Na Lin, Huiwen Zhang, Wenjuan Qiu, Jun Ye, Lianshu Han, Yu Wang, Xuefan Gu   +6 more
doaj   +1 more source

The Importance of Sphingomyelin Phosphodiesterase Acid-Like 3b (SMPDL-3b) Levels in Kidney Biopsy Specimens of Children With Nephrotic Syndrome

Fetal and Pediatric Pathology, 2023
It remains unclear whether the low amount of SMPDL-3b required for rituximab binding is the cause of treatment resistance in patients with treatment-resistant nephrotic syndrome with advanced podocyte injury. Given the limited number of studies on the relationship between rituximab and SMPDL-3b, this study was conducted to assess whether SMPDL-3b ...
Muhammet Kaya, İlknur Girişgen, Nagihan Yalçın, Tülay Becerir, Hande Şenol, Gülsün Gülten, Selcuk Yüksel   +6 more
openaire   +5 more sources