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Rocío Núñez-Torres, Juan Macías, María Mancebo, Mario Frías, Giovanni Dolci, Francisco Téllez, Dolores Merino, Nicolás Merchante, Jesús Gómez-Mateos, Giovanni Guaraldi, Antonio Rivero-Juárez, Juan A Pineda, Luis M Real
Contradictory data about the impact of the rs738409 steatosis-related polymorphism within PNPLA3 gene on liver fibrosis progression in HIV/hepatitis C virus (HIV/HCV)-coinfected patients have been reported. Our objective was to test whether this, and other polymorphisms previously related to fatty liver disease in HIV infection linked to SAMM50 or LPPR4 genes, influence liver fibrosis progression in HIV/HCV-coinfected individuals. Three hundred and thirty two HIV/HCV-coinfected patients who consecutively attended four Spanish university hospitals from November 2011 to July 2013 were included...
2016: PloS One
Juan Macias, Antonio Rivero-Juarez, Karin Neukam, Francisco Tellez, Dolores Merino, Mario Frias, Nicolás Merchante, Antonio Rivero, Juan A Pineda, Luis M Real
OBJECTIVE: Fatty liver disease (FLD) is frequently observed in HIV-infected patients and a cause of advanced liver disease. Genetic factors could play a role in determining risk for FLD development in those patients. The aim of this study was to evaluate the association of those single nucleotide polymorphisms (SNPs) previously found to be related to nonalcoholic FLD by genome-wide association analyses in the general population with the presence of FLD, including steatohepatitis, in HIV-infected individuals...
September 24, 2015: AIDS
Panpan Yu, Chinyere Agbaegbu, Daniela A Malide, Xufeng Wu, Yasuhiro Katagiri, John A Hammer, Herbert M Geller
The lipid phosphate phosphatase-related proteins (LPPRs), also known as plasticity-related genes (PRGs), are classified as a new brain-enriched subclass of the lipid phosphate phosphatase (LPP) superfamily. They induce membrane protrusions, neurite outgrowth or dendritic spine formation in cell lines and primary neurons. However, the exact roles of LPPRs and the mechanisms underlying their effects are not certain. Here, we present the results of a large-scale proteome analysis to determine LPPR1-interacting proteins using co-immunoprecipitation coupled to mass spectrometry...
September 1, 2015: Journal of Cell Science
Ulf Strauss, Anja U Bräuer
Plasticity-related genes (PRGs, Lipid phosphate phosphatase-related proteins LPPRs) are a defined as a subclass of the lipid phosphate phosphatase (LPP) superfamily, comprising so far five brain- and vertebrate-specific membrane-spanning proteins. LPPs interfere with lipid phosphate signaling and are thereby involved in mediating the extracellular concentration and signal transduction of lipid phosphate esters such as lysophosphatidate (LPA) and spingosine-1 phosphate (S1P). LPPs dephosphorylate their substrates through extracellular catalytic domains, thus making them ecto-phosphatases...
January 2013: Biochimica et Biophysica Acta
Leon A Adams, Scott W White, Julie A Marsh, Stephen J Lye, Kristin L Connor, Richard Maganga, Oyekoya T Ayonrinde, John K Olynyk, Trevor A Mori, Lawrence J Beilin, Lyle J Palmer, Jeffrey M Hamdorf, Craig E Pennell
UNLABELLED: Genetic factors account for a significant proportion of the phenotypic variance of nonalcoholic fatty liver disease (NAFLD); however, very few predisposing genes have been identified. We aimed to (1) identify novel genetic associations with NAFLD by performing a genome-wide association study (GWAS), and (2) examine the biological expression of the strongest genetic associations in a separate cohort. We performed GWAS of a population-based cohort (Raine Study) of 928 adolescents assessed for NAFLD by ultrasound at age 17...
February 2013: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
André B P van Kuilenburg, Judith Meijer, Adri N P M Mul, Raoul C M Hennekam, Jan M N Hoovers, Christine E M de Die-Smulders, Peter Weber, Andrea Capone Mori, Jörgen Bierau, Brian Fowler, Klaus Macke, Jörn Oliver Sass, Rutger Meinsma, Julia B Hennermann, Peter Miny, Lida Zoetekouw, Raymon Vijzelaar, Joost Nicolai, Bauke Ylstra, M Estela Rubio-Gozalbo
Dihydropyrimidine dehydrogenase (DPD) deficiency is an infrequently described autosomal recessive disorder of the pyrimidine degradation pathway and can lead to mental and motor retardation and convulsions. DPD deficiency is also known to cause a potentially lethal toxicity following administration of the antineoplastic agent 5-fluorouracil. In an ongoing study of 72 DPD deficient patients, we analysed the molecular background of 5 patients in more detail in whom initial sequence analysis did not reveal pathogenic mutations...
June 2009: Human Genetics
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