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Page 1
ATP-driven processes of peroxisomal matrix protein import.
Schwerter DP, Grimm I, Platta HW, Erdmann R. Schwerter DP, et al. Biol Chem. 2017 May 1;398(5-6):607-624. doi: 10.1515/hsz-2016-0293. Biol Chem. 2017. PMID: 27977397 Free article. Review.
The Pex1p/Pex6p complex recognizes the ubiquitinated import receptors, pulls them out of the membrane and releases them into the cytosol. ...ATP binding and hydrolysis are required for Pex1p/Pex6p complex formation and receptor export. In this review, we summarize t …
The Pex1p/Pex6p complex recognizes the ubiquitinated import receptors, pulls them out of the membrane and releases them into the cyto …
Role of AAA(+)-proteins in peroxisome biogenesis and function.
Grimm I, Erdmann R, Girzalsky W. Grimm I, et al. Biochim Biophys Acta. 2016 May;1863(5):828-37. doi: 10.1016/j.bbamcr.2015.10.001. Epub 2015 Oct 8. Biochim Biophys Acta. 2016. PMID: 26453804 Free article. Review.
Mutations in the PEX1 gene, which encodes a protein required for peroxisome biogenesis, are the most common cause of the Zellweger spectrum diseases. The recognition that Pex1p shares a conserved ATP-binding domain with p97 and NSF led to the discovery of the extend …
Mutations in the PEX1 gene, which encodes a protein required for peroxisome biogenesis, are the most common cause of the Zellweger sp …
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
Schieferdecker A, Wendler P. Schieferdecker A, et al. Int J Mol Sci. 2019 Aug 1;20(15):3756. doi: 10.3390/ijms20153756. Int J Mol Sci. 2019. PMID: 31374812 Free PMC article. Review.
Approximately 65% of patients are affected by mutations in the peroxins Pex1 and Pex6. The proteins form the heteromeric Pex1/Pex6 complex, which is important for protein import into peroxisomes. ...We review the abundant records of missense mutations described in P …
Approximately 65% of patients are affected by mutations in the peroxins Pex1 and Pex6. The proteins form the heteromeric Pex1/ …
Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
Miranda V, Cortez L, Rosmaninho-Salgado J, Ramos F, Paiva C. Miranda V, et al. J Pediatr Ophthalmol Strabismus. 2024 Jan-Feb;61(1):59-66. doi: 10.3928/01913913-20230220-01. Epub 2023 Apr 24. J Pediatr Ophthalmol Strabismus. 2024. PMID: 37092661 Free article. Review.
Genetic analysis identified homozygosity for the pathogenic variant c.2528G>A p.(Gly843Asp) in the PEX1 gene in both siblings. The parents were heterozygous carriers of the variant. CONCLUSIONS: The authors report a familial case of Heimler syndrome due to biallelic …
Genetic analysis identified homozygosity for the pathogenic variant c.2528G>A p.(Gly843Asp) in the PEX1 gene in both siblings. The …
Purification of a Recombinant Human PEX1/PEX6 AAA+ ATPase Complex from HEK293TT Cells.
Pandey S, Dodt G. Pandey S, et al. Methods Mol Biol. 2023;2643:359-372. doi: 10.1007/978-1-0716-3048-8_25. Methods Mol Biol. 2023. PMID: 36952198
The heteromeric complex of the two AAA+ ATPases PEX1 and PEX6 is involved in the export of the monoubiquitinated import receptor PEX5 from the peroxisomal membrane. ...To have better options for the treatment of the milder mutations we purified the human PEX1/PEX6 c …
The heteromeric complex of the two AAA+ ATPases PEX1 and PEX6 is involved in the export of the monoubiquitinated import receptor PEX5 …
Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol.
Pedrosa AG, Francisco T, Bicho D, Dias AF, Barros-Barbosa A, Hagmann V, Dodt G, Rodrigues TA, Azevedo JE. Pedrosa AG, et al. J Biol Chem. 2018 Jul 20;293(29):11553-11563. doi: 10.1074/jbc.RA118.003669. Epub 2018 Jun 8. J Biol Chem. 2018. PMID: 29884772 Free PMC article.
However, whether the natural substrate of the PEX1-PEX6 complex is monoubiquitinated PEX5 (Ub-PEX5) itself or some Ub-PEX5-interacting component(s) of the DTM remains unknown. ...These findings strongly suggest that DTM-embedded Ub-PEX5 is a bona fide substrate of the P …
However, whether the natural substrate of the PEX1-PEX6 complex is monoubiquitinated PEX5 (Ub-PEX5) itself or some Ub-PEX5-interactin …
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ, Hu FY, Xu P, Qi YH, Li JK, Zhang YJ, Chen F, Chang Q, Song F, Shen SM, Xu GZ, Wu JH. Gao FJ, et al. Orphanet J Rare Dis. 2019 Dec 12;14(1):290. doi: 10.1186/s13023-019-1243-x. Orphanet J Rare Dis. 2019. PMID: 31831025 Free PMC article.
This study aimed to analyze the clinical and genetic characteristics of HS, and to evaluate potential phenotype-genotype correlations. RESULTS: Two HS cases caused by PEX1 mutations were identified, and a novel likely pathogenic mutation, PEX1 c.895_896insTATA, was …
This study aimed to analyze the clinical and genetic characteristics of HS, and to evaluate potential phenotype-genotype correlations. RESUL …
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
Liang JS, Hung KL, Lin LJ, Ong WP, Keng WT, Lu JF. Liang JS, et al. Epilepsy Behav. 2023 Aug;145:109266. doi: 10.1016/j.yebeh.2023.109266. Epub 2023 Jun 27. Epilepsy Behav. 2023. PMID: 37385119
A total of 3 novel mutations, including a nonsense, a frameshift, and a splicing mutation, in PEX1 from ZSD patients were identified and unequivocally confirmed that the p.Ile989Thr mutant PEX1 exhibited temperature-sensitive characteristics and is associated with m …
A total of 3 novel mutations, including a nonsense, a frameshift, and a splicing mutation, in PEX1 from ZSD patients were identified …
Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.
Karuntu JS, Klouwer FCC, Engelen M, Boon CJF. Karuntu JS, et al. Ophthalmic Genet. 2024 Aug;45(4):351-362. doi: 10.1080/13816810.2024.2330389. Epub 2024 Apr 25. Ophthalmic Genet. 2024. PMID: 38664000 Free article.
RESULTS: Nine patients were homozygous for c.2528 G > A (p.Gly843Asp) variants in PEX1 and one patient was compound heterozygous for c.2528 G>A (p.Gly843Asp) and c.2097_2098insT (p.Ile700TyrfsTer42) in PEX1. ...
RESULTS: Nine patients were homozygous for c.2528 G > A (p.Gly843Asp) variants in PEX1 and one patient was compound heterozygous f …
37 results