| 1 | PEX1, PEX6
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| The peroxisomal AAA-ATPase Pex1/Pex6 unfolds substrates by processive threading.
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| Gardner BM, Castanzo DT, Chowdhury S, Stjepanovic G, Stefely MS, Hurley JH, Lander GC, Martin A.
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| Nat Commun 9(1):135. doi: 10.1038/s41467-017-02474-4.
2018
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| 2 | PBD2, PEX1, PEX26, PEX5, PEX6
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| Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
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| Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR.
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| Am J Hum Genet 101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007.
2017
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| 3 | PBD2, PEX6
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| Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.
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| Rydzanicz M, Stradomska TJ, Jurkiewicz E, Jamroz E, Gasperowicz P, Kostrzewa G, Płoski R, Tylki-Szymańska A.
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| J Appl Genet 58(4):475-480. doi: 10.1007/s13353-017-0414-5. Epub 2017 Oct 18.
2017
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| 4 | PEX1, PEX26, PEX6
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| Pexophagy is responsible for 65% of cases of peroxisome biogenesis disorders.
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| Nazarko TY.
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| Autophagy 13(5):991-994. doi: 10.1080/15548627.2017.1291480. Epub 2017 Feb 28.
2017
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| 5 | HMLR1, HMLR2, PEX1, PEX6
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| Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
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| Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF.
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| Eur J Hum Genet 24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15.
2016
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| 6 | PEX6, SCABD1, SCABD2, SLC52A2
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| Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).
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| Guissart C, Drouot N, Oncel I, Leheup B, Gershoni-Barush R, Muller J, Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, Claustres M, Tranchant C, Topaloglu H, Koenig M.
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| Eur J Hum Genet 24(8):1154-9. doi: 10.1038/ejhg.2015.259. Epub 2015 Dec 16. 2016
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| 7 | PEX6
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| PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
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| Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ.
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| Hum Mutat 37(2):170-4. doi: 10.1002/humu.22934. Epub 2015 Dec 14.
2016
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| 8 | HMLR1, HMLR6, PEX1, PEX6
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| Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
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| Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G.
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| Am J Hum Genet 97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17.
2015
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| 9 | PEX1, PEX6
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| Molecular snapshots of the Pex1/6 AAA+ complex in action.
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| Ciniawsky S, Grimm I, Saffian D, Girzalsky W, Erdmann R, Wendler P.
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| Nat Commun 6:7331. doi: 10.1038/ncomms8331.
2015
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| 10 | PEX1, PEX14, PEX26, PEX5, PEX6
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| AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import.
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| Tamura S, Matsumoto N, Takeba R, Fujiki Y.
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| J Biol Chem 289(35):24336-46. doi: 10.1074/jbc.M114.588038. Epub 2014 Jul 11. 2014
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| 11 | PEX5, PEX6, ZFAND6
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| AWP1/ZFAND6 functions in Pex5 export by interacting with cys-monoubiquitinated Pex5 and Pex6 AAA ATPase.
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| Miyata N, Okumoto K, Mukai S, Noguchi M, Fujiki Y.
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| Traffic 13(1):168-83. doi: 10.1111/j.1600-0854.2011.01298.x. Epub 2011 Nov 9.
2012
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| 12 | PBD2, PEX6
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| A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
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| Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, Yik WY, Jiralerspong S, Bouchard L, Steinberg S, Hacia JG, Dewar K, Braverman NE.
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| BMC Med Genet 13:72. doi: 10.1186/1471-2350-13-72.
2012
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| 13 | PEX1, PEX26, PEX5, PEX6
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| New insights into dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p in shuttling of PTS1-receptor Pex5p during peroxisome biogenesis.
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| Fujiki Y, Nashiro C, Miyata N, Tamura S, Okumoto K.
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| Biochim Biophys Acta 1823(1):145-9. doi: 10.1016/j.bbamcr.2011.10.012. Epub 2011 Nov 4. Review.
2012
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| 14 | PEX1, PEX26, PEX6
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| Recruiting mechanism of the AAA peroxins, Pex1p and Pex6p, to Pex26p on the peroxisomal membrane.
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| Nashiro C, Kashiwagi A, Matsuzaki T, Tamura S, Fujiki Y.
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| Traffic 12(6):774-88. doi: 10.1111/j.1600-0854.2011.01182.x. Epub 2011 Mar 24.
2011
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| 15 | PEX1, PEX26, PEX6, ZWS1
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| Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.
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| Zhang R, Chen L, Jiralerspong S, Snowden A, Steinberg S, Braverman N.
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| Proc Natl Acad Sci U S A 107(12):5569-74. Epub 2010 Mar 8. 2010
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| 16 | PBD2, PEX6
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| Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
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| Ebberink MS, Kofster J, Wanders RJ, Waterham HR.
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| Hum Mutat 31(1):E1058-70. doi: 10.1002/humu.21153.
2010
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| 17 | PBD2, PEX6
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| Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
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| Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG.
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| Hum Mutat 30(3):E467-80. doi: 10.1002/humu.20932.
2009
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| 18 | PEX6
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| Loss of peroxisome function triggers necrosis.
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| Jungwirth H, Ring J, Mayer T, Schauer A, Büttner S, Eisenberg T, Carmona-Gutierrez D, Kuchler K, Madeo F.
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| FEBS Lett 582(19):2882-6. doi: 10.1016/j.febslet.2008.07.023. Epub 2008 Jul 24.
2008
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| 19 | PEX6
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| A novel role of peroxin PEX6: suppression of aging defects in mitochondria.
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| Seo JG, Lai CY, Miceli MV, Jazwinski SM.
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| Aging Cell 6(3):405-13. Epub 2007 Apr 26.
2007
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| 20 | PXMP3, PEX6, PEX10, PEX12, PEX13, PBD12
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| Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
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| Krause C, Rosewich H, Thanos M, Gartner J.
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| Hum Mutat 27(11):1157. 2006
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| 21 | PEX6, PBD2
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| A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
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| Raas-Rothschild A, Wanders RJ, Mooijer PA, Gootjes J, Waterham HR, Gutman A, Suzuki Y, Shimozawa N, Kondo N, Eshel G, Espeel M, Roels F, Korman SH.
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| Am J Hum Genet 70(4):1062-8. Epub 2002 Feb 28. 2002
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| 22 | ABCD4, PBD1, PBD2, PBD3, PBD4, PBD5, PEX1, PEX13, PEX6, PEX7, PEX19, PXMP3, PEX5, RCDP1, ZWS1, ZWS2, ZWS3, IRD7, IRD8, PBD12
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| Genotype-Phenotype Correlations in Disorders of Peroxisome Biogenesis.
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| Moser HW.
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| Mol Genet Metab 68(2):316-327 1999
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| 23 | AFG3L1, AFG3L2, NSF, NVL, PBD2, PEX1, PEX6, PSMC1, PSMC2, PSMC3, PSMC4, PSMC5, PSMC6, VPS4B, SPAST, VCP
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| AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes.
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| Neuwald AF, Aravind L, Spouge JL, Koonin EV.
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| Genome Res 9(1):27-43 1999
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| 24 | PEX6, PBD2
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| The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
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| Yahraus T, et al.
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| EMBO J 15 : 2914-2923. 1996
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| 25 | PBD2, PEX6
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| Human peroxisome assembly factor-2 (PAF-2) : a gene responsible for group C peroxisome biogenesis disorder in humans.
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| Fukuda S, et al.
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| Am J Hum Genet 59 : 1210-1220. 1996
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| 26 | PEX6
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| Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant.
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| Tsukamoto T, et al.
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| Nat Genet 11 : 395-401. 1995
|