Results 1 to 10 of about 2,214,124 (236)

Integrative bioinformatics analysis identifies APOE as a candidate link between lipid dysregulation and macrophage activation in inborn errors of metabolism [PDF]

Frontiers in Pharmacology
BackgroundInborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders characterized by metabolic dysregulation and high mortality. Despite extensive genetic discoveries, the molecular mechanisms underlying severe disease progression ...
Rahmat Dani Satria, Riswan Hadi Kusuma, Riswan Hadi Kusuma, Nazhipah Isnani, Usi Sukorini, Usi Sukorini, Tri Ratnaningsih, Tri Ratnaningsih, Elizabeth Henny Herningtyas, Elizabeth Henny Herningtyas, Umi S. Intansari, Umi S. Intansari, Windarwati, Windarwati, Nur Imma Fatimah Harahap, Nur Imma Fatimah Harahap, Primadhy Harris Syaifullah, Primadhy Harris Syaifullah, Kharisa Rasikhatul Hikmatul, Litia Lucretia Bodiwan, Richardus Wisnandito Prabasaktya, Nicholas Matthew Santoso, Muhammad Arkaan Putra Aprilia Darmawan, Eko Mugiyanto, Bambang Ardianto, Lalu Muhammad Irham, Chiou-Feng Lin, Chiou-Feng Lin, Chia-Ling Chen, Chia-Ling Chen, Chia-Ling Chen, Chia-Ling Chen, Wirawan Adikusuma   +32 more
doaj   +3 more sources

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives [PDF]

Frontiers in Nutrition
Cobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact on neurological health has evolved.
Arushi Gahlot Saini, Pradeep Kumar Gunasekaran, Asuri Narayan Prasad   +2 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

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