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Items: 1 to 20 of 22

1.

MicroRNAs upregulated during HIV infection target peroxisome biogenesis factors: Implications for virus biology, disease mechanisms and neuropathology.

Xu Z, Asahchop EL, Branton WG, Gelman BB, Power C, Hobman TC.

PLoS Pathog. 2017 Jun 8;13(6):e1006360. doi: 10.1371/journal.ppat.1006360. eCollection 2017 Jun.

2.

Genetic regulation analysis reveals involvement of tumor necrosis factor and alpha-induced protein 3 in stress response in mice.

Xu J, Dai A, Chen Q, Liu X, Zhang Y, Wang H, Li H, Chen Y, Cao M.

Gene. 2016 Jan 15;576(1 Pt 3):528-36. doi: 10.1016/j.gene.2015.10.071. Epub 2015 Nov 4.

PMID:
26546835
3.

Structural biology of the import pathways of peroxisomal matrix proteins.

Emmanouilidis L, Gopalswamy M, Passon DM, Wilmanns M, Sattler M.

Biochim Biophys Acta. 2016 May;1863(5):804-13. doi: 10.1016/j.bbamcr.2015.09.034. Epub 2015 Oct 9. Review.

4.

The first minutes in the life of a peroxisomal matrix protein.

Dias AF, Francisco T, Rodrigues TA, Grou CP, Azevedo JE.

Biochim Biophys Acta. 2016 May;1863(5):814-20. doi: 10.1016/j.bbamcr.2015.09.025. Epub 2015 Sep 25. Review.

5.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E.

Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28.

PMID:
26220973
6.

Revisiting the intraperoxisomal pathway of mammalian PEX7.

Rodrigues TA, Grou CP, Azevedo JE.

Sci Rep. 2015 Jul 3;5:11806. doi: 10.1038/srep11806.

7.

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.

J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):69-72. doi: 10.4274/jcrpe.1835.

8.

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R.

Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30.

9.

C10ORF10/DEPP, a transcriptional target of FOXO3, regulates ROS-sensitivity in human neuroblastoma.

Salcher S, Hagenbuchner J, Geiger K, Seiter MA, Rainer J, Kofler R, Hermann M, Kiechl-Kohlendorfer U, Ausserlechner MJ, Obexer P.

Mol Cancer. 2014 Sep 28;13:224. doi: 10.1186/1476-4598-13-224.

10.

CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p.

Miyauchi-Nanri Y, Mukai S, Kuroda K, Fujiki Y.

Biochem J. 2014 Oct 1;463(1):65-74. doi: 10.1042/BJ20130861.

PMID:
24989250
11.

Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.

Noguchi M, Honsho M, Abe Y, Toyama R, Niwa H, Sato Y, Ghaedi K, Rahmanifar A, Shafeghati Y, Fujiki Y.

J Hum Genet. 2014 Jul;59(7):387-92. doi: 10.1038/jhg.2014.39. Epub 2014 May 22. Erratum in: J Hum Genet. 2014 Jul;59(7):417.

PMID:
24849933
12.

C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.

Salamian A, Mohamadynejad P, Ghaedi K, Nejati AS, Shafeghati Y, Ahnak MB, Nematollahi M, Karbalaie K, Hadipour F, Baharvand H, Nasr-Esfahani MH.

Ann Clin Lab Sci. 2013 Winter;43(1):76-80.

PMID:
23462609
13.

Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.

Mohamadynejad P, Ghaedi K, Shafeghati Y, Salamian A, Tanhaie S, Karamali F, Rabiee F, Parivar K, Baharvand H, Nasr-Esfahani MH.

Gene. 2013 Apr 15;518(2):461-6. doi: 10.1016/j.gene.2013.01.022. Epub 2013 Jan 26.

PMID:
23357221
14.

Using whole-exome sequencing to identify inherited causes of autism.

Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA.

Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002.

15.

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.

J Child Neurol. 2012 Oct;27(10):1270-5. Epub 2012 Feb 28.

PMID:
22378669
16.

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.

Kanzawa N, Shimozawa N, Wanders RJ, Ikeda K, Murakami Y, Waterham HR, Mukai S, Fujita M, Maeda Y, Taguchi R, Fujiki Y, Kinoshita T.

J Lipid Res. 2012 Apr;53(4):653-63. doi: 10.1194/jlr.M021204. Epub 2012 Jan 17.

17.

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N.

Hum Mutat. 2012 Jan;33(1):189-97. doi: 10.1002/humu.21623. Epub 2011 Oct 31.

PMID:
21990100
18.

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG.

J Cell Biochem. 2011 May;112(5):1250-8. doi: 10.1002/jcb.22979.

19.

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N.

Am J Med Genet A. 2010 Jul;152A(7):1812-7. doi: 10.1002/ajmg.a.33489.

PMID:
20583171
20.

Getting a camel through the eye of a needle: the import of folded proteins by peroxisomes.

Lanyon-Hogg T, Warriner SL, Baker A.

Biol Cell. 2010 Feb 12;102(4):245-63. doi: 10.1042/BC20090159. Review.

PMID:
20146669

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