Moser A - Search Results

1

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. Among authors: moser h, moser a. Mol Genet Metab. 2004 Nov;83(3):252-63. doi: 10.1016/j.ymgme.2004.08.008. Mol Genet Metab. 2004. PMID: 15542397

2

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

3

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D. Braverman N, et al. Among authors: moser h, moser a. Hum Mutat. 2002 Oct;20(4):284-97. doi: 10.1002/humu.10124. Hum Mutat. 2002. PMID: 12325024

4

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

5

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.

Braverman N, Zhang R, Chen L, Nimmo G, Scheper S, Tran T, Chaudhury R, Moser A, Steinberg S. Braverman N, et al. Among authors: moser a. Mol Genet Metab. 2010 Apr;99(4):408-16. doi: 10.1016/j.ymgme.2009.12.005. Epub 2009 Dec 11. Mol Genet Metab. 2010. PMID: 20060764 Free PMC article.

6

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders.

Law KB, Bronte-Tinkew D, Di Pietro E, Snowden A, Jones RO, Moser A, Brumell JH, Braverman N, Kim PK. Law KB, et al. Among authors: moser a. Autophagy. 2017 May 4;13(5):868-884. doi: 10.1080/15548627.2017.1291470. Autophagy. 2017. PMID: 28521612 Free PMC article.

7

Phenotypic and genotypic variability of generalized peroxisomal disorders.

Naidu S, Moser AE, Moser HW. Naidu S, et al. Among authors: moser ae, moser hw. Pediatr Neurol. 1988 Jan-Feb;4(1):5-12. doi: 10.1016/0887-8994(88)90017-3. Pediatr Neurol. 1988. PMID: 3069099 Review.

8

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y. Matsumoto N, et al. Among authors: moser hw, moser a. Am J Hum Genet. 2003 Aug;73(2):233-46. doi: 10.1086/377004. Epub 2003 Jul 8. Am J Hum Genet. 2003. PMID: 12851857 Free PMC article.

9

X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes.

Mahmood A, Dubey P, Moser HW, Moser A. Mahmood A, et al. Among authors: moser hw, moser a. Pediatr Transplant. 2005 Dec;9 Suppl 7:55-62. doi: 10.1111/j.1399-3046.2005.00447.x. Pediatr Transplant. 2005. PMID: 16305618 Review.

10

Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.

Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y. Furuki S, et al. Among authors: moser hw, moser a. J Biol Chem. 2006 Jan 20;281(3):1317-23. doi: 10.1074/jbc.M510044200. Epub 2005 Oct 27. J Biol Chem. 2006. PMID: 16257970 Free article.

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