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Crystallographic characterization of the N-terminal domain of PEX1
Acta Crystallographica Section D: Biological Crystallography, 2004Peroxisomal enzymes are responsible for several primary metabolism pathways, including beta-oxidation and lipid biosynthesis. PEX1 and PEX6 are hexameric AAA-type ATPases and both are necessary for the import of more than 50 peroxisomal resident proteins from the cytosol into peroxisomes.
Kentaro Tomii +2 more
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Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression
Biochemical and Biophysical Research Communications, 2021 Peroxisomes play an essential role in cellular homeostasis by regulating lipid metabolism and the conversion of reactive oxygen species (ROS). Several peroxisomal proteins, known as peroxins (PEXs), control peroxisome biogenesis and degradation. Various mutations in the PEX genes are genetic causes for the development of inheritable peroxisomal ...
Zae Young Ryoo +2 more
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International Journal of Molecular Sciences, 2020 The important physiologic role of peroxisomes is shown by the occurrence of peroxisomal biogenesis disorders (PBDs) in humans. This spectrum of autosomal recessive metabolic disorders is characterized by defective peroxisome assembly and impaired ...
Harald W Platta
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A novel compound heterozygous PEX1 variant in Heimler syndrome
Experimental Eye Research, 2023Heimler syndrome (HS) is a rare autosomal recessive hereditary disease that is caused by biallelic variants in peroxisomal biogenic factor 1 gene (PEX1), peroxisomal biogenic factor 6 gene (PEX6) or peroxisomal biogenic factor 26 gene (PEX26), resulting in intracellular peroxisomal dysfunction (PBDs).
Mingyu, Yu +5 more
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The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder [PDF]
Molecular Genetics and Metabolism, 2014 Zellweger spectrum disorder (ZSD) is a disease continuum that results from inherited defects in PEX genes essential for normal peroxisome assembly. These autosomal recessive disorders impact brain development and also cause postnatal liver, adrenal, and kidney dysfunction, as well as loss of vision and hearing.
Don Zack, Ann Moser
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PEX1 deficiency presenting as Leber congenital amaurosis
Pediatric Neurology, 2004Peroxisome biogenesis disorders result from defects in peroxin proteins involved in peroxisomal matrix and membrane protein import. Peroxins are encoded in peroxin protein genes; to date, the PEX genes responsible for all 12 peroxisome biogenesis disorders complementation groups are known.
Michelakakis, Helen M. +4 more
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A Mechanistic Perspective on PEX1 and PEX6, Two AAA+ Proteins of the Peroxisomal Protein Import Machinery [PDF]
International Journal of Molecular Sciences, 2019 In contrast to many protein translocases that use ATP or GTP hydrolysis as the driving force to transport proteins across biological membranes, the peroxisomal matrix protein import machinery relies on a regulated self-assembly mechanism for this purpose and uses ATP hydrolysis only to reset its components.
Azevedo Je +2 more
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Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy inSaccharomyces cerevisiae [PDF]
Autophagy, 2014 Turnover of damaged, dysfunctional, or excess organelles is critical to cellular homeostasis. We screened mutants disturbed in peroxisomal protein import, and found that a deficiency in the exportomer subunits Pex1, Pex6, and Pex15 results in enhanced ...
Motley, A.M, Nuttall, J.M, Hettema, E.H
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Identification of a common PEX1 mutation in Zellweger syndrome
Human Mutation, 1999The Zellweger spectrum of disease, encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, is due to a failure to form functional peroxisomes. Cell fusion complementation studies demonstrated that these diseases are genetically heterogeneous, with two-thirds of all patients ...
C S, Collins, S J, Gould
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The common phospholipid-binding activity of the N-terminal domains of PEX1 and VCP/p97 [PDF]
FEBS Journal, 2006 PEX1 is a type II AAA‐ATPase that is indispensable for biogenesis and maintenance of the peroxisome, an organelle responsible for the primary metabolism of lipids, such as β‐oxidation and lipid biosynthesis. Recently, we demonstrated a striking structural similarity between its N‐terminal domain and those of other membrane‐related AAA‐ATPases, such as ...
Hidekazu Hiroaki +2 more
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