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Dataset for a case report of a homozygous PEX16 F332del mutation.
Bacino C, Chao YH, Seto E, Lotze T, Xia F, Jones RO, Moser A, Wangler MF. Bacino C, et al. Among authors: moser a. Data Brief. 2015 Dec 17;6:722-7. doi: 10.1016/j.dib.2015.12.011. eCollection 2016 Mar. Data Brief. 2015. PMID: 26870756 Free PMC article.
Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.
Wangler MF, Chao YH, Bayat V, Giagtzoglou N, Shinde AB, Putluri N, Coarfa C, Donti T, Graham BH, Faust JE, McNew JA, Moser A, Sardiello M, Baes M, Bellen HJ. Wangler MF, et al. Among authors: moser a. PLoS Genet. 2017 Jun 22;13(6):e1006825. doi: 10.1371/journal.pgen.1006825. eCollection 2017 Jun. PLoS Genet. 2017. PMID: 28640802 Free PMC article.
Investigational methods for peroxisomal disorders.
Steinberg S, Jones R, Tiffany C, Moser A. Steinberg S, et al. Among authors: moser a. Curr Protoc Hum Genet. 2008 Jul;Chapter 17:Unit 17.6. doi: 10.1002/0471142905.hg1706s58. Curr Protoc Hum Genet. 2008. PMID: 18633975
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM. Hoover-Fong J, et al. Among authors: moser a. Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. Am J Hum Genet. 2014. PMID: 24387990 Free PMC article. No abstract available.
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JT, Charnas L, Stetten G, Karczeski B, Cutting G, Steinberg S. Wang Y, et al. Among authors: moser a. Mol Genet Metab. 2011 Sep-Oct;104(1-2):160-6. doi: 10.1016/j.ymgme.2011.05.016. Epub 2011 Jun 22. Mol Genet Metab. 2011. PMID: 21700483
1,145 results