| Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. | Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
Masih S, Moirangthem A, Phadke SR. | 08/14/2021 |
| Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7) | A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.
Niwa H, Miyauchi-Nanri Y, Okumoto K, Mukai S, Noi K, Ogura T, Fujiki Y. | 01/12/2019 |
| This revealed a marked plasmalogen deficiency and a deficient fatty acid alpha-oxidation in the IHH cells, due to a defect of PEX7, a cytosolic receptor protein required for peroxisomal import of a subset of peroxisomal proteins. | Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.
Klouwer FC, Koster J, Ferdinandusse S, Waterham HR., Free PMC Article | 06/24/2017 |
| our data suggest that insertion of the trimeric PEX5-PEX7-PTS2 protein complex into the DTM is probably accompanied by conformational alterations in PEX5 to allow release of the PTS2 protein into the organelle matrix | Revisiting the intraperoxisomal pathway of mammalian PEX7.
Rodrigues TA, Grou CP, Azevedo JE., Free PMC Article | 08/6/2016 |
| Mutation in the PEX7 Gene is associated with Rhizomelic Chondrodysplasia Punctata Type 1. | Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
Çim A, Coşkun S, Görükmez O, Yüksel H, Uluca Ü, Pietro ED, Plourde F, Braverman NE., Free PMC Article | 03/26/2016 |
| the sequential formation of a highly stable trimeric complex involving cargo protein, PEX7 and PEX5L stabilizes cargo binding and is a prerequisite for PTS2-mediated peroxisomal import. | Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7.
Kunze M, Malkani N, Maurer-Stroh S, Wiesinger C, Schmid JA, Berger J., Free PMC Article | 05/9/2015 |
| dysfunctional Pex7p, including mutants from RCDP patients, is degraded by a ubiquitin-dependent proteasomal pathway involving the CRL4A (Cullin4A-RING ubiquitin ligase) complex. | CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p.
Miyauchi-Nanri Y, Mukai S, Kuroda K, Fujiki Y. | 11/8/2014 |
| Export of peroxisomal PEX7 back into the cytosol requires export of PEX5. | A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway.
Rodrigues TA, Alencastre IS, Francisco T, Brites P, Fransen M, Grou CP, Azevedo JE., Free PMC Article | 09/6/2014 |
| This results of this studt revealed the association of 2 single nucleotide polymorphisms and 1 haplotype with autism spectrum disorder (P < .05). | Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
Ro M, Park J, Nam M, Bang HJ, Yang J, Choi KS, Kim SK, Chung JH, Kwack K. | 06/8/2013 |
| Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7. | Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
Kunze M, Neuberger G, Maurer-Stroh S, Ma J, Eck T, Braverman N, Schmid JA, Eisenhaber F, Berger J., Free PMC Article | 03/3/2012 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Mutations in PEX7 gene is associated with Rhizomelic chondrodysplasia punctata. | Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E, Moser A, Steinberg S, Puri RD, Verma IC, Braverman N. | 05/31/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesMaternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. ASK1 and MAP2K6 as modifiers of age at onset in Huntington's disease.
Arning L, Monté D, Hansen W, Wieczorek S, Jagiello P, Akkad DA, Andrich J, Kraus PH, Saft C, Epplen JT. | 04/3/2008 |
| Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. | Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.
Ghys K, Fransen M, Mannaerts GP, Van Veldhoven PP., Free PMC Article | 01/21/2010 |
| Identification of PEX7 as the second gene involved in Refsum disease. | Identification of PEX7 as the second gene involved in Refsum disease.
Van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. | 01/21/2010 |
| mutational spectrum in the PEX7 gene of 78 patients (including five pairs of sibs) clinically and biochemically diagnosed with RCDP type I | Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR., Free PMC Article | 01/21/2010 |
| This gene codes for the peroxin 7 receptor protein required for peroxisomal import of proteins containing a peroxisomal targeting signal type 2. Mutations may result in a broad clinical spectrum of Refsum disease. | Identification of PEX7 as the second gene involved in Refsum disease.
van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ., Free PMC Article | 01/21/2010 |
| The residual activity of mutant Pex7 protein in rhizomelic chondrodysplasia punctata patients and reduced amounts of normal Pex7 are associated with milder and variant phenotypes. | Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D. | 01/21/2010 |
| Missense mutations, sequence duplications and deletions in PRX7 in 3 patients with the Refsum disease phenotypes. | Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Jansen GA, Waterham HR, Wanders RJ. | 01/21/2010 |