Results 11 to 20 of about 11,732 (218)

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   +10 more sources

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes—A Systematic Review [PDF]

Metabolites
Background: Myoclonus, a sudden brief shock-like involuntary movement, represents a common yet under-recognized manifestation across many inherited metabolic disorders.
Elżbieta Majewska, Zofia Zdort, Aleksandra Ochocka, Justyna Paprocka   +3 more
doaj   +2 more sources

Metabolic advances in 2025: from clinical breakthroughs to molecular reprogramming [PDF]

Metabolism Open
The year 2025 represented a turning point in metabolic research, marked by advances that combined unprecedented clinical efficacy with deep mechanistic insight. Landmark obesity trials redefined therapeutic expectations, with head-to-head and combination
Maria Dalamaga, Junli Liu
doaj   +2 more sources

Editorial: Nutritional management of patients with inborn errors of metabolism [PDF]

Frontiers in Nutrition
Consuelo Pedrón-Giner, Luis Aldamiz-Echevarria, María L. Couce, María L. Couce   +3 more
doaj   +2 more sources

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

Frontiers in Neurology, 2022
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene.
Paulo Ribeiro Nóbrega, Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Helena Fussiger, Carolina de Figueiredo Santos, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto, Pedro Braga-Neto   +20 more
doaj   +1 more source

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

Cell Chemical Biology, 2019
SummaryX-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. Sobetirome, a potent thyroid hormone agonist, has been shown to lower VLCFA levels in the periphery and ...
Hartley, Meredith D., Shokat, Mitra D., DeBell, Margaret J., Banerji, Tania, Kirkemo, Lisa L., Scanlan, Thomas S.   +5 more
openaire   +3 more sources

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