Results 11 to 20 of about 1,353,029 (249)
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders. [PDF]
Mol Genet Metab, 2023 The peroxisome is an essential eukaryotic organelle with diverse metabolic functions. Inherited peroxisomal disorders are associated with a wide spectrum of clinical outcomes and are broadly divided into two classes, those impacting peroxisome biogenesis
Wangler MF +7 more
europepmc +5 more sources
Human disorders of peroxisome metabolism and biogenesis
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2016 Peroxisomes are dynamic organelles that play an essential role in a variety of cellular catabolic and anabolic metabolic pathways, including fatty acid alpha- and beta-oxidation, and plasmalogen and bile acid synthesis.
Waterham, Hans R. +2 more
core +4 more sources
Peroxisome biogenesis in mammalian cells [PDF]
Frontiers in Physiology, 2014 To investigate peroxisome assembly and human peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome, thirteen different complementation groups (CGs) of Chinese hamster ovary (CHO) cell mutants defective in peroxisome biogenesis have been ...
Yukio eFujiki +4 more
doaj +2 more sources
Pharmacological induction of peroxisomes in peroxisome biogenesis disorders
Annals of Neurology, 2000 Inherited aberrant peroxisome assembly results in a group of neurological diseases termed peroxisome biogenesis disorders (PBDs). PBDs include three major clinical phenotypes that represent a continuum of clinical features from the most severe form ...
Kemp, S. +4 more
core +3 more sources
The HIV-1 Accessory Protein Vpu Downregulates Peroxisome Biogenesis
mBio, 2020 Human immunodeficiency virus type 1 (HIV-1) establishes lifelong infections in humans, a process that relies on its ability to thwart innate and adaptive immune defenses of the host.
Zaikun Xu +4 more
doaj +2 more sources
Peroxisome biogenesis disorders. [PDF]
Transl Sci Rare Dis, 2016 The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to deficiencies of peroxisomal enzymes, complex developmental sequelae and progressive disabilities.
Argyriou C, D'Agostino MD, Braverman N.
europepmc +4 more sources
The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear
Cells, 2022 Peroxisome biogenesis disorders (due to PEX gene mutations) are associated with symptoms that range in severity and can lead to early childhood death, but a common feature is hearing impairment.
Rafael M. Kochaj +7 more
doaj +1 more source
Control of mitochondrial dynamics and apoptotic pathways by peroxisomes
Frontiers in Cell and Developmental Biology, 2022 Peroxisomes are organelles containing different enzymes that catalyze various metabolic pathways such as β-oxidation of very long-chain fatty acids and synthesis of plasmalogens. Peroxisome biogenesis is controlled by a family of proteins called peroxins,
Chenxing Jiang, Tomohiko Okazaki
doaj +1 more source
Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis
Cells, 2022 The AAA-ATPases Pex1 and Pex6 are required for the formation and maintenance of peroxisomes, membrane-bound organelles that harbor enzymes for specialized metabolism.
Ryan M. Judy +2 more
doaj +1 more source
Peroxisomes are required for lipid metabolism and muscle function in Drosophila melanogaster. [PDF]
PLoS ONE, 2014 Peroxisomes are ubiquitous organelles that perform lipid and reactive oxygen species metabolism. Defects in peroxisome biogenesis cause peroxisome biogenesis disorders (PBDs).
Joseph E Faust +8 more
doaj +1 more source