PEX1 is essential for glycosome biogenesis and trypanosomatid parasite survival [PDF]
Frontiers in Cellular and Infection MicrobiologyTrypanosomatid parasites are kinetoplastid protists that compartmentalize glycolytic enzymes in unique peroxisome-related organelles called glycosomes.
Vishal C Kalel, Ralf Erdmann
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Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders [PDF]
Frontiers in Molecular NeuroscienceZellweger spectrum disorders (ZSDs) are rare autosomal recessive conditions belonging to the larger group of peroxisome biogenesis disorders. The most prevalent form of ZSD is caused by mutations in the PEX1 gene, which encodes an AAA ATPase protein ...
Ursula Heins-Marroquin +13 more
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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 Judy, Connor Sheedy
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Extensin-like Protein OsPEX1 Modulates Grain Filling in Rice [PDF]
PlantsGrain filling is a vital factor influencing both rice grain yield and quality, yet its underlying mechanisms remain poorly understood. In this study, we perform a functional analysis of the grain-filling defective mutant pex1 in rice. pex1 plants produce
Na Liu +10 more
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Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss
Cells, 2022 Peroxisome Biogenesis Disorders (PBD) and Zellweger syndrome spectrum disorders (ZSD) are rare genetic multisystem disorders that include hearing impairment and are associated with defects in peroxisome assembly, function, or both.
Gwenaelle S G Geleoc +2 more
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Molecular Therapy - Methods and Clinical Development, 2021 Patients with Zellweger spectrum disorder (ZSD) commonly present with vision loss due to mutations in PEX genes required for peroxisome assembly and function.
Anna Polosa +2 more
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Structure of the peroxisomal Pex1/Pex6 ATPase complex bound to a substrate [PDF]
Nature Communications, 2023 The double-ring AAA+ ATPase Pex1/Pex6 is required for peroxisomal receptor recycling and is essential for peroxisome formation. Pex1/Pex6 mutations cause severe peroxisome associated developmental disorders.
Maximilian Rüttermann +7 more
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Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation [PDF]
International Dental Journal: Biallelic variants in the PEX1 and PEX6 genes are implicated in Heimler syndrome, which is characterized by amelogenesis imperfecta, sensorineural hearing loss, retinitis pigmentosa, and nail defects.
Piranit N. Kantaputra +11 more
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Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling [PDF]
Genetics in Medicine OpenPurpose: Zellweger Spectrum Disorder (ZSD) is a rare syndromic disorder characterized by impaired peroxisome assembly and function. Many cases are due to pathogenic variants in the PEX1 gene and are inherited in an autosomal recessive manner.
Karen E. Malone +3 more
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Structure and Function of p97 and Pex1/6 Type II AAA+ Complexes
Frontiers in Molecular Biosciences, 2017 Protein complexes of the Type II AAA+ (ATPases associated with diverse cellular activities) family are typically hexamers of 80–150 kDa protomers that harbor two AAA+ ATPase domains.
Petra Wendler
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