Results 21 to 30 of about 11,732 (218)

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

The Journal of Clinical Investigation, 2023
Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer, best exemplified in the inborn errors of sphingolipid metabolism in lysosomes. The dihydroceramide
Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Àngels García-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gómez, Aurora Pujol   +18 more
doaj   +1 more source

In vivo magnetic resonance spectroscopy: basic methodology and clinical applications [PDF]

, 2009
Item does not contain fulltextThe clinical use of in vivo magnetic resonance spectroscopy (MRS) has been limited for a long time, mainly due to its low sensitivity. However, with the advent of clinical MR systems with higher magnetic field strengths such
Marinette van der Graaf, JH Ardenkjaer-Larsen, Z Argov, MH Baslow, S Blüml, PJ Bolan, PA Bottomley, K Brockmann, TR Brown, TR Brown, S Cavassila, KM Cecil, KM Cecil, JH Duyn, JH Duyn, U Dydak, UF Engelke, J Frahm, H Fujita, D Galanaud, S Gruber, A Haase, A Heerschap, W Heindel, J Hennig, S Herminghaus, DI Hoult, FA Howe, H in ‘t Zandt, CB Item, CG Janson, DW Klomp, DW Klomp, U Klose, R Kreis, H Kugel, BS Li, D Maintz, E Martin, AA Maudsley, T Michaelis, SH Moolenaar, SJ Nelson, EJ Novotny Jr, RJ Ogg, KS Opstad, RJ Ordidge, J Pietz, S Posse, PJ Pouwels, PJ Pouwels, SW Provencher, M Rijpkema, B Ross, B Ross, TW Scheenen, CW Schmidt, RF Schulte, A Skoch, BJ Soher, S Stöckler, S Stöckler, M Stubbs, M Sylvain, AR Tate, MS Knaap Van der, T Varho, MA Willemsen, JS Wolinsky, Q Yue   +69 more
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Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA, Crouch E, deMello DE, Dirksen U, Doyle IR, Fisher JH, Floros J, Glasser SW, Green D, Hawgood S, Ikegami M, Ikegami M, Ikegami M, Kitamura T, Kresch MJ, Madan T, Mahut B, Mason RJ, Myrianthopoulos NC, Nogee LM, Pilot-Matias TJ, Power JHT, Prakash UBS, Reed JA, Robertson B, Rosen SH, Stoll BJ, Tredano M, Vorbroker DK, Wang J-Y   +29 more
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Metabolic encephalopathy and lipid storage myopathy associated with a presumptive mitochondrial fatty acid oxidation defect in a dog

Frontiers in Veterinary Science, 2015
A 1-year-old spayed female Shih Tzu presented for episodic abnormalities of posture and mentation. Neurologic examination was consistent with a bilaterally symmetric multifocal encephalopathy.
Vanessa R Biegen, John P McCue, Taryn A Donovan, G Diane Shelton   +3 more
doaj   +1 more source

Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations

Journal of Lipid Research, 2017
Lipin-1 is a Mg2+-dependent phosphatidic acid phosphatase (PAP) that in mice is necessary for normal glycerolipid biosynthesis, controlling adipocyte metabolism, and adipogenic differentiation.
Michele Pelosi, Eric Testet, Soazig Le Lay, Isabelle Dugail, Xiaoyun Tang, Guillaume Mabilleau, Yamina Hamel, Marine Madrange, Thomas Blanc, Thierry Odent, Todd P.W. McMullen, Marco Alfò, David N. Brindley, Pascale de Lonlay   +13 more
doaj   +1 more source

Sphingolipids: the nexus between Gaucher disease and insulin resistance

Lipids in Health and Disease, 2010
Sphingolipids constitute a diverse array of lipids in which fatty acids are linked through amide bonds to a long-chain base, and, structurally, they form the building blocks of eukaryotic membranes.
Fuller Maria
doaj   +1 more source

Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions. [PDF]

PLoS ONE, 2018
Protein-protein interactions integrated with disease-gene associations represent important information for revealing protein functions under disease conditions to improve the prevention, diagnosis, and treatment of complex diseases.
Apichat Suratanee, Kitiporn Plaimas
doaj   +1 more source

Diagnosing Inborn Errors of Lipid Metabolism with Proton Nuclear Magnetic Resonance Spectroscopy [PDF]

Clinical Chemistry, 2006
AbstractBackground: Many severe diseases are caused by defects in lipid metabolism. As a result, patients often accumulate unusual lipids in their blood and tissues, and proper identification of these lipids is essential for correct diagnosis. In this study, we investigated the potential use of proton nuclear magnetic resonance (1H-NMR) spectroscopy to
Oostendorp, M. van, Engelke, U.F.H., Willemsen, M.A.A.P., Wevers, R.A.   +3 more
openaire   +3 more sources

Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells

Journal of Lipid Research, 2017
Niemann-Pick C (NPC) disease is an autosomal recessive disorder that leads to excessive storage of cholesterol and other lipids in late endosomes and lysosomes.
Nina H. Pipalia, Kanagaraj Subramanian, Shu Mao, Harold Ralph, Darren M. Hutt, Samantha M. Scott, William E. Balch, Frederick R. Maxfield   +7 more
doaj   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources