| 1 | PEX5L, PEX7
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| 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.
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| Kunze M, Malkani N, Maurer-Stroh S, Wiesinger C, Schmid JA, Berger J.
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| J Biol Chem 290(8):4928-40. doi: 10.1074/jbc.M114.601575. Epub 2014 Dec 23.
2015
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| 2 | PEX7, RCDP1
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| Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.
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| Mohamadynejad P, Ghaedi K, Shafeghati Y, Salamian A, Tanhaie S, Karamali F, Rabiee F, Parivar K, Baharvand H, Nasr-Esfahani MH.
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| Gene 518(2):461-6. doi: 10.1016/j.gene.2013.01.022. Epub 2013 Jan 26.
2013
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| 3 | PEX7
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| Proteomic analysis reveals that the Rab GTPase RabE1c is involved in the degradation of the peroxisomal protein receptor PEX7 (peroxin 7).
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| Cui S, Fukao Y, Mano S, Yamada K, Hayashi M, Nishimura M.
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| J Biol Chem 288(8):6014-23. doi: 10.1074/jbc.M112.438143. Epub 2013 Jan 7.
2013
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| 4 | PBD7, PEX7, RCDP1
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| Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
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| Ro M, Park J, Nam M, Bang HJ, Yang J, Choi KS, Kim SK, Chung JH, Kwack K.
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| J Child Neurol 27(10):1270-5. Epub 2012 Feb 28.
2012
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| 5 | PEX7
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| Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
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| Kunze M, Neuberger G, Maurer-Stroh S, Ma J, Eck T, Braverman N, Schmid JA, Eisenhaber F, Berger J.
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| J Biol Chem 286(52):45048-62. doi: 10.1074/jbc.M111.301853. Epub 2011 Nov 5.
2011
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| 6 | AGPS, ARSE, CDPX1, CDPX2A, CHILD, DHAPAT, EBP, GGCX, HEMSK, KES, LBR, MGP, NSHDL, PEX7, RCDP1, RCDP2, RCDP3, VKCFD2, VKORC1
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| Chondrodysplasia punctata: a clinical diagnostic and radiological review.
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| Irving MD, Chitty LS, Mansour S, Hall CM.
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| Clin Dysmorphol 17(4):229-41.
2008
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| 7 | PEX7, PHYH
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| Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
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| Jansen GA, Waterham HR, Wanders RJ.
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| Hum Mutat 23(3):209-18. Review. 2004
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| 8 | PBD7, PEX7
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| Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
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| Jansen GA, Waterham HR, Wanders RJ.
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| Hum Mutat 23(3):209-18. Review.
2004
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| 9 | PBD7, PEX7
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| Identification of PEX7 as the second gene involved in Refsum disease
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| van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ.
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| Am J Hum Genet 72(2):471-7. 2003
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| 10 | PEX7, RCDP1
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| Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
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| Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR.
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| Am J Hum Genet 70(3):612-24. 2002
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| 11 | PEX7, RCDP1
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| Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
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| Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D.
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| Hum Mutat 20(4):284-97. 2002
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| 12 | PEX7
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| Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.
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| Ghys K, Fransen M, Mannaerts GP, Van Veldhoven PP.
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| Biochem J 365(Pt 1):41-50. 2002
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| 13 | PEX7, RCDP1
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| PEX7 Gene Structure, Alternative Transcripts, and Evidence for a Founder Haplotype for the Frequent RCDP Allele, L292ter.
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| Braverman N, Steel G, Lin P, Moser A, Moser H, Valle D.
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| Genomics 63(2):181-192. 2000
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| 14 | RCDP1, PEX7
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| Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
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| Purdue PE, et al.
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| Neurochem Res 24(4):581-6. Review. 1999
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| 15 | 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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| 16 | PEX7, RCDP1
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| Molecular basis of rhizomelic chondrodysplasia punctata type I : high frequency of the Leu-292 stop mutation in 38 patients.
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| Brites P, Motley A, Hogenhout E, Hettema E, Wijburg F, Heijmans HS, Tabak HF, Distel B, Wanders RJ.
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| J Inherit Metab Dis 21 : 306-308. 1998
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| 17 | RCDP1, PEX7
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| Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.
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| Wanders RJ, et al.
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| Biochem Biophys Res Commun 247(3):663-7. 1998
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| 18 | PEX7, RCDP1
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| Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
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| Braverman N, et al.
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| Nat Genet 15 : 369-376. 1997
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| 19 | PEX7, RCDP1
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| Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
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| Motley AM, et al.
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| Nat Genet 15 : 377-380. 1997
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| 20 | PEX7, RCDP1
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| Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
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| Purdue PE, et al.
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| Nat Genet 15 : 381-384. 1997
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| 21 | PEX7, RCDP1, RCDP2
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| Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.
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| Heikoop JC, et al.
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| Biochim Biophys Acta 1097: 62-70. 1991
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| 22 | PEX7, RCDP1, RCDP2
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| Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.
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| Heikoop JC, et al.
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| J Clin Invest 86 : 126-130. 1990
|