نتایج جستجو برای: smpd1

تعداد نتایج: 88  

Journal: :Genetics 2016
Verena Schmökel Nadin Memar Anne Wiekenberg Martin Trotzmüller Ralf Schnabel Frank Döring

Lipids play a pivotal role in embryogenesis as structural components of cellular membranes, as a source of energy, and as signaling molecules. On the basis of a collection of temperature-sensitive embryonic lethal mutants, a systematic database search, and a subsequent microscopic analysis of >300 interference RNA (RNAi)-treated/mutant worms, we identified a couple of evolutionary conserved gen...

2008
Volker Teichgräber Martina Ulrich Nicole Endlich Joachim Riethmüller Barbara Wilker Anna M van Heeckeren Mark L Barr Gabriele von Kürthy Kurt W Schmid Michael Weller Burkhard Tümmler Florian Lang Heike Grassme Gerd Döring Erich Gulbins

Microbial lung infections are the major cause of morbidity and mortality in the hereditary metabolic disorder cystic fibrosis, yet the molecular mechanisms leading from the mutation of cystic fibrosis transmembrane conductance regulator (CFTR) to lung infection are still unclear. Here, we show that ceramide age-dependently accumulates in the respiratory tract of uninfected Cftr-deficient mice o...

2013
Christiane Mühle Hagen B. Huttner Silke Walter Martin Reichel Fabio Canneva Piotr Lewczuk Erich Gulbins Johannes Kornhuber

BACKGROUND As a key enzyme in sphingolipid metabolism, acid sphingomyelinase (ASM) is involved in the regulation of cell fate and signaling via hydrolysis of sphingomyelin to form ceramide. While increased activity of the lysosomal form has been associated with various pathological conditions, there are few studies on secretory ASM limited only to cell models, plasma or serum. METHODS An opti...

2016
Susan Elliott Norman Buroker Jason J. Cournoyer Anna M. Potier Joseph D. Trometer Carole Elbin Mack J. Schermer Jaana Kantola Aaron Boyce Frantisek Turecek Michael H. Gelb C. Ronald Scott

BACKGROUND There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life. OBJECTIVE To evaluate the performance of a multiplex-tandem mass spectrometry (MS/MS) enzymatic activity assay of 6 lysosomal enzymes in a NBS laboratory for the identific...

2015
Joelle Makoukji Mohamad Raad Katia Genadry Sally El-Sitt Nadine J. Makhoul Ehab Saad Aldin Eden Nohra Mark Jabbour Ajanthah Sangaralingam Claude Chelala Robert H. Habib Fouad Boulos Arafat Tfayli Rose-Mary Boustany

Breast cancer is the most common cancer in women worldwide. Elucidation of underlying biology and molecular pathways is necessary for improving therapeutic options and clinical outcomes. CLN3 protein (CLN3p), deficient in neurodegenerative CLN3 disease is anti-apoptotic, and defects in the CLN3 gene cause accelerated apoptosis of neurons in CLN3 disease and up-regulation of ceramide. Dysregulat...

2016
Stefan Wallner Margot Grandl Gerhard Liebisch Markus Peer Evelyn Orsó Alexander Sigrüner Andrzej Sobota Gerd Schmitz

BACKGROUND Extravasation of macrophages and formation of lipid-laden foam cells are key events in the development and progression of atherosclerosis. The degradation of atherogenic lipoproteins subsequently leads to alterations in cellular lipid metabolism that influence inflammatory signaling. Especially sphingolipids and ceramides are known to be involved in these processes. We therefore anal...

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