Results 51 to 60 of about 36,200 (174)

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

cAMP-Signalling Regulates Gametocyte-Infected Erythrocyte Deformability Required for Malaria Parasite Transmission. [PDF]

, 2015
Blocking Plasmodium falciparum transmission to mosquitoes has been designated a strategic objective in the global agenda of malaria elimination. Transmission is ensured by gametocyte-infected erythrocytes (GIE) that sequester in the bone marrow and at ...
Odile Mercereau-Puijalon, B. Naissant, F. Breil, Vernick Kenneth, Corbett Yolanda, Vernick, Kenneth D, Lavazec Catherine, Naissant Bernina, Duffier, Yoann, Naissant, Bernina, Eloise Thompson, Audrey Lorthiois (545164), Baker, David, A, Corbett, Yolanda, Duffier Yoann, Yolanda Corbett, Ghania Ramdani (676819), Vernick, Kenneth, Mercereau-Puijalon, Odile, Ramdani, Ghania, Yoann Duffier, Langsley Gordon, Ghania Ramdani, E. Thompson, Y. Corbett, K. Vernick, Audrey Lorthiois, Catherine Lavazec (106835), Dupuy, Florian, Gordon Langsley (85708), Gordon Langsley, Taramelli, Donatella, Baker, David ,, Florian Dupuy (616138), Lorthiois, Audrey, Bernina Naissant, Lavazec, Catherine, Dupuy Florian, Baker, David A, Catherine Lavazec, Odile Mercereau-Puijalon (58234), Mercereau-Puijalon Odile, David A Baker, Cummings Ross, Ross Cummings (736307), O. Mercereau Puijalon, Cummings, Ross, D. A. Baker, F. Dupuy, Florence Breil, Lorthiois Audrey, G. Langsley, Thompson Eloise, Y. Duffier, Florian Dupuy, Kenneth Vernick (736310), David A. Baker (122252), Baker, David,, A. Lorthiois, Breil Florence, Bernina Naissant (268019), R. Cummings, G. Ramdani, Yoann Duffier (736308), Donatella Taramelli, Ross Cummings, D. Taramelli, Ramdani Ghania, Taramelli Donatella, Langsley, Gordon, Baker David A., Kenneth Vernick, Thompson, Eloise, Florence Breil (736306), C. Lavazec, Eloise Thompson (376344), Yolanda Corbett (736309), Breil, Florence, Donatella Taramelli (736311)   +78 more
core   +1 more source

Tales and mysteries of the enigmatic sphingomyelin synthase family [PDF]

, 2010
In the last five years tremendous progress has been made toward the understanding of the mechanisms that govern sphingomyelin (SM) synthesis in animal cells.
Chiara Luberto, Sub Membrane Enzymology begr. 01-06-12, Luberto, C., Holthuis, J.C.M., Membrane Enzymology, Joost C. M. Holthuis   +5 more
core   +1 more source

Identification and Characterization of Murine Mitochondria-associated Neutral Sphingomyelinase (MA-nSMase), the Mammalian Sphingomyelin Phosphodiesterase 5 [PDF]

Journal of Biological Chemistry, 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 ...
Bill X, Wu, Vinodh, Rajagopalan, Patrick L, Roddy, Christopher J, Clarke, Yusuf A, Hannun   +4 more
openaire   +2 more sources

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

BMC Medical Genetics, 2020
Background Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.
L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther, P. Demelo-Rodríguez   +7 more
doaj   +1 more source

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Journal of Biochemical and Clinical Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene.
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi   +6 more
doaj   +1 more source

Identification and biochemical characterization of an acid sphingomyelinase-like protein from the bacterial plant pathogen Ralstonia solanacearum that hydrolyzes ATP to AMP but not sphingomyelin to ceramide. [PDF]

PLoS ONE, 2014
Acid sphingomyelinase (aSMase) is a human enzyme that catalyzes the hydrolysis of sphingomyelin to generate the bioactive lipid ceramide and phosphocholine.
Michael V Airola, Jessica M Tumolo, Justin Snider, Yusuf A Hannun   +3 more
doaj   +1 more source

Integrating Genetics With Epidemiological Measurements Identifies Burden QTLs of Inflammatory Bowel Disease across 20 Countries

Advanced Science, EarlyView.
The burden quantitative trait locus (bQTL) analysis integrates epidemiological data from GBD study with genotype of 2 621 978 SNPs from 2414 individuals in 1000 Genomes Project across 20 countries. rs7633471 shows the strongest effect that each increase in centi‐allele frequency of the allele C associated with 10.00 decrease of age‐standardized ...
Chen Sun, Siyu Wei, Junxian Tao, Haiyan Chen, Chi Yan, Jiacheng Wang, Jing Xu, Lian Duan, Yuanbo Zhan, Yuping Zou, Ruilin Li, Linna Yuan, Wei She, Songlin Lu, Ning Wang, Qinduo Ren, Yan Guo, Yuan Xu, Chang Wang, Hongsheng Tian, Chen Zhang, Yu Dong, Guoping Tang, Zhenwei Shang, Yongshuai Jiang, Wenhua Lv, Mingming Zhang, Hongchao Lyu   +27 more
wiley   +1 more source

Modeling SMS driven conversion of ceramide to sphingomyelin reveals the existence of a positive feedback mechanism [PDF]

, 2012
In questa tesi presentiamo un modello matematico minimo per la conversione di un ceramide in sfingomielina catalizzata dall'enzima sfingomielina sintasi 1 (SMS1) basato sulle leggi della cinetica chimica.
Thomaseth, Caterina
core  

The Lipid-Modifying Enzyme SMPDL3B Negatively Regulates Innate Immunity

Cell Reports, 2015
Lipid metabolism and receptor-mediated signaling are highly intertwined processes that cooperate to fulfill cellular functions and safeguard cellular homeostasis.
Leonhard X. Heinz, Christoph L. Baumann, Marielle S. Köberlin, Berend Snijder, Riem Gawish, Guanghou Shui, Omar Sharif, Irene M. Aspalter, André C. Müller, Richard K. Kandasamy, Florian P. Breitwieser, Andreas Pichlmair, Manuela Bruckner, Manuele Rebsamen, Stephan Blüml, Thomas Karonitsch, Astrid Fauster, Jacques Colinge, Keiryn L. Bennett, Sylvia Knapp, Markus R. Wenk, Giulio Superti-Furga   +21 more
doaj   +1 more source