Results 11 to 20 of about 19,908 (200)

Pharmacological complementation remedies an inborn error of lipid metabolism [PDF]

Cell Chemical Biology, 2019
Summary X-linked adrenoleukodystrophy (X-ALD) is a rare, genetic disease in which increased very long chain fatty acids (VLCFAs) in the central nervous system (CNS) cause demyelination and axonal degeneration, leading to severe neurological deficits.
Hartley, Meredith D., Shokat, Mitra D., DeBell, Margaret J., Banerji, Tania, Kirkemo, Lisa L., Scanlan, Thomas S.   +5 more
openaire   +3 more sources

Mapping an atlas of tissue-specific Drosophila melanogaster metabolomes by high resolution mass spectrometry. [PDF]

PLoS ONE, 2013
Metabolomics can provide exciting insights into organismal function, but most work on simple models has focussed on the whole organism metabolome, so missing the contributions of individual tissues.
Venkateswara R Chintapalli, Mohammed Al Bratty, Dominika Korzekwa, David G Watson, Julian A T Dow   +4 more
doaj   +1 more source

Defective Lipid Droplet–Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115Summary

Cellular and Molecular Gastroenterology and Hepatology, 2022
Background & Aims: Recently, novel inborn errors of metabolism were identified because of mutations in V-ATPase assembly factors TMEM199 and CCDC115.
Lars E. Larsen, Marjolein A.W. van den Boogert, Wilson A. Rios-Ocampo, Jos C. Jansen, Donna Conlon, Patrick L.E. Chong, J. Han M. Levels, Roos E. Eilers, Vinay V. Sachdev, Noam Zelcer, Tobias Raabe, Miao He, Nicholas J. Hand, Joost P.H. Drenth, David J. Rader, Eric S.G. Stroes, Dirk J. Lefeber, Johan W. Jonker, Adriaan G. Holleboom   +18 more
doaj   +1 more source

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man. [PDF]

PLoS ONE, 2016
X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation. Virtually all males develop progressive myelopathy (AMN).
Malu-Clair van de Beek, Inge M E Dijkstra, Henk van Lenthe, Rob Ofman, Dalia Goldhaber-Pasillas, Nicolas Schauer, Martin Schackmann, Joo-Yeon Engelen-Lee, Frédéric M Vaz, Wim Kulik, Ronald J A Wanders, Marc Engelen, Stephan Kemp   +12 more
doaj   +1 more source

Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases—Review Article

Frontiers in Medicine, 2021
The skin is a flexible organ that forms a barrier between the environment and the body's interior; it is involved in the immune response, in protection and regulation, and is a dynamic environment in which skin lipids play an important role in ...
Agata Zwara, Katarzyna Wertheim-Tysarowska, Adriana Mika   +2 more
doaj   +1 more source

Inborn Errors of Long-Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism

Cell Reports, 2016
Summary: Inborn errors of metabolism (IEMs) occur with high incidence in human populations. Especially prevalent among these are inborn deficiencies in fatty acid β-oxidation (FAO), which are clinically associated with developmental neuropsychiatric ...
Zhigang Xie, Albert Jones, Jude T. Deeney, Seong Kwon Hur, Vytas A. Bankaitis   +4 more
doaj   +1 more source

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

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