PubMed (cited) for id: 601498

Year	Number of Results
1986	1
1995	1
1996	3
1999	1
2001	1
2004	1
2005	1
2006	1
2009	1
2010	1
2011	1
2015	2
2016	1
2017	1
2018	1
2024	0

1

A pex1 missense mutation improves peroxisome function in a subset of Arabidopsis pex6 mutants without restoring PEX5 recycling.

Gonzalez KL, Ratzel SE, Burks KH, Danan CH, Wages JM, Zolman BK, Bartel B. Gonzalez KL, et al. Proc Natl Acad Sci U S A. 2018 Apr 3;115(14):E3163-E3172. doi: 10.1073/pnas.1721279115. Epub 2018 Mar 19. Proc Natl Acad Sci U S A. 2018. PMID: 29555730 Free PMC article.

2

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

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. Falkenberg KD, et al. Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007. Am J Hum Genet. 2017. PMID: 29220678 Free PMC article.

3

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

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. Zaki MS, et al. Hum Mutat. 2016 Feb;37(2):170-4. doi: 10.1002/humu.22934. Epub 2015 Dec 14. Hum Mutat. 2016. PMID: 26593283

4

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

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. Ratbi I, et al. Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17. Am J Hum Genet. 2015. PMID: 26387595 Free PMC article.

5

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992

6

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS, Kofster J, Wanders RJ, Waterham HR. Ebberink MS, et al. Hum Mutat. 2010 Jan;31(1):E1058-70. doi: 10.1002/humu.21153. Hum Mutat. 2010. PMID: 19877282

7

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG. Yik WY, et al. Hum Mutat. 2009 Mar;30(3):E467-80. doi: 10.1002/humu.20932. Hum Mutat. 2009. PMID: 19105186 Free PMC article.

8

Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls.

Ong KR, Visram S, McKaig S, Brueton LA. Ong KR, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):187-93. doi: 10.1016/j.ejmg.2005.07.003. Epub 2005 Aug 19. Eur J Med Genet. 2006. PMID: 16530715 Review.

9

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N. Steinberg S, et al. Mol Genet Metab. 2004 Nov;83(3):252-63. doi: 10.1016/j.ymgme.2004.08.008. Mol Genet Metab. 2004. PMID: 15542397

10

The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

Matsumoto N, Tamura S, Moser A, Moser HW, Braverman N, Suzuki Y, Shimozawa N, Kondo N, Fujiki Y. Matsumoto N, et al. J Hum Genet. 2001;46(5):273-7. doi: 10.1007/s100380170078. J Hum Genet. 2001. PMID: 11355018

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