The physiological functions of human peroxisomes
RJA Wanders, M Baes, D Ribeiro… - Physiological …, 2023 - journals.physiology.org
Peroxisomes are subcellular organelles that play a central role in human physiology by
catalyzing a range of unique metabolic functions. The importance of peroxisomes for human …
catalyzing a range of unique metabolic functions. The importance of peroxisomes for human …
[HTML][HTML] Human disorders of peroxisome metabolism and biogenesis
HR Waterham, S Ferdinandusse… - Biochimica Et Biophysica …, 2016 - Elsevier
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 …
catabolic and anabolic metabolic pathways, including fatty acid alpha-and beta-oxidation …
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
NE Braverman, GV Raymond, WB Rizzo… - Molecular genetics and …, 2016 - Elsevier
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a
heterogeneous group of genetic disorders caused by mutations in PEX genes responsible …
heterogeneous group of genetic disorders caused by mutations in PEX genes responsible …
[HTML][HTML] Zellweger spectrum disorders: clinical overview and management approach
FCC Klouwer, K Berendse, S Ferdinandusse… - Orphanet journal of rare …, 2015 - Springer
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal
biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical …
biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical …
[HTML][HTML] Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification
A Bloch-Zupan, T Rey, A Jimenez-Armijo… - Frontiers in …, 2023 - frontiersin.org
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting
enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel …
enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel …
[HTML][HTML] Molecular insights into peroxisome homeostasis and peroxisome biogenesis disorders
Y Fujiki, K Okumoto, M Honsho, Y Abe - Biochimica et Biophysica Acta …, 2022 - Elsevier
Peroxisomes are single-membrane organelles essential for cell metabolism including the β-
oxidation of fatty acids, synthesis of etherlipid plasmalogens, and redox homeostasis …
oxidation of fatty acids, synthesis of etherlipid plasmalogens, and redox homeostasis …
[HTML][HTML] VPS13D promotes peroxisome biogenesis
HA Baldwin, C Wang, G Kanfer, HV Shah… - The Journal of cell …, 2021 - ncbi.nlm.nih.gov
The VPS13 gene family consists of VPS13A–D in mammals. Although all four genes have
been linked to human diseases, their cellular functions are poorly understood, particularly …
been linked to human diseases, their cellular functions are poorly understood, particularly …
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism
S Ferdinandusse, KD Falkenberg, J Koster… - Journal of medical …, 2017 - jmg.bmj.com
Background Acyl-CoA binding domain containing protein 5 (ACBD5) is a peroxisomal
membrane protein with a cytosolic acyl-CoA binding domain. Because of its acyl-CoA …
membrane protein with a cytosolic acyl-CoA binding domain. Because of its acyl-CoA …
Recent insights into peroxisome biogenesis and associated diseases
Y Fujiki, Y Abe, Y Imoto, AJ Tanaka… - Journal of cell …, 2020 - journals.biologists.com
Peroxisomes are single-membrane organelles present in eukaryotes. The functional
importance of peroxisomes in humans is represented by peroxisome-deficient peroxisome …
importance of peroxisomes in humans is represented by peroxisome-deficient peroxisome …
[HTML][HTML] A next generation multiscale view of inborn errors of metabolism
Inborn errors of metabolism (IEM) are not unlike common diseases. They often present as a
spectrum of disease phenotypes that correlates poorly with the severity of the disease …
spectrum of disease phenotypes that correlates poorly with the severity of the disease …