Results 11 to 20 of about 7,161 (190)

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

Contribution of sphingomyelin phosphodiesterase acid-like 3B to the proliferation, migration, and invasion of ovarian cancer cells. [PDF]

Transl Cancer Res
Cancer has the highest mortality rate among gynecological cancers and poses a serious threat to women's lives. However, the treatment options for ovarian cancer are still limited, and exploring effective targeted biomarkers is particularly important for predicting and treating ovarian cancer.
Song B, Jiang Y, Lin Y, Liu J, Jiang Y.
europepmc   +3 more sources

Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol [PDF]

BMC Medical Genetics, 2007
Background Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene.
Genest Jacques, Engert James C, Ruel Isabelle L, Dastani Zari, Marcil Michel   +4 more
doaj   +3 more sources

Predicting the mechanism of phospholipidosis [PDF]

Journal of Cheminformatics, 2012
The mechanism of phospholipidosis is still not well understood. Numerous different mechanisms have been proposed, varying from direct inhibition of the breakdown of phospholipids to the binding of a drug compound to the phospholipid, preventing breakdown.
Lowe Robert, Mussa Hamse Y, Nigsch Florian, Glen Robert C, Mitchell John BO   +4 more
doaj   +5 more sources

First Characterization of Sphingomyeline Phosphodiesterase Expression in the Bumblebee, Bombus lantschouensis

Sociobiology, 2017
The bumblebee (Bombus lantschouensis Vogt) is an important pollinator of wild plants. Sphingomyelin phosphodiesterase (SMPD) is a hydrolase that plays a major role in sphingolipid metabolism reactions.
lei Han, Shaoyu He, Jie Dong, Ye Wang, Jiaxing Huang, Jie Wu   +5 more
doaj   +3 more sources

Challenging the conventional wisdom: Re‐evaluating Smpd3's role in extracellular vesicle biogenesis [PDF]

Journal of Extracellular Biology
Extracellular vesicles (EVs) are pivotal in intercellular communication, impacting diverse physiological and pathological processes. Current in vitro EV biogenesis studies often utilize pharmacological inhibitors, inducing off‐target effects and ...
Marlies Burgelman, Pieter Dujardin, Anthony Willems, Tino Hochepied, Griet Van Imschoot, Elien Van Wonterghem, Lien Van Hoecke, Charysse Vandendriessche, Roosmarijn E. Vandenbroucke   +8 more
doaj   +2 more sources

Targeting SMPDL3B to Ameliorate Radiation- and Cisplatin-Induced Renal Toxicity [PDF]

Cells
Kidney toxicity remains a major dose-limiting complication of radiation therapy and platinum-based chemotherapy, yet the molecular determinants of renal susceptibility and resilience to these genotoxic treatments are incompletely understood.
Anis Ahmad, Shamroop Kumar Mallela, Saba Ansari, Mohammed Alnukhali, Sandra Merscher, Alla Mitrofanova, Youssef H. Zeidan, Alan Pollack, Alessia Fornoni, Brian Marples   +9 more
doaj   +2 more sources

Identification and characterization of murine mitochondria-associated neutral sphingomyelinase (MA-nSMase), the mammalian sphingomyelin phosphodiesterase 5. [PDF]

J Biol Chem, 2010
Sphingolipids play important roles in regulating cellular responses. Although mitochondria contain sphingolipids, direct regulation of their levels in mitochondria or mitochondria-associated membranes is mostly unclear. Neutral SMase (N-SMase) isoforms, which catalyze hydrolysis of sphingomyelin (SM) to ceramide and phosphocholine, have been found in ...
Wu BX, Rajagopalan V, Roddy PL, Clarke CJ, Hannun YA.   +4 more
europepmc   +4 more sources

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

The FEBS 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.
Lim SM, Yeung K, Trésaugues L, Ling TH, Nordlund P   +4 more
openaire   +5 more sources

High expression of SMPD4 promotes liver cancer and is associated with poor prognosis [PDF]

BMC Research Notes
Objectives The expression of sphingomyelin phosphodiesterase 4 (SMPD4), a neutral sphingomyelin enzyme, is intricately associated with tumorigenesis and progression. However, its role in hepatocellular carcinoma (HCC) remains unclear.
Rongyue Wang, Ting Wang, Yanze Su, Zhiheng Lin, Xiaoping Liu, Yuanjun Jiao, Jikui Liu, Erbao Chen   +7 more
doaj   +2 more sources