Hubert L - Search Results

1

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.

Cappuccio G, Donti TR, Hubert L, Sun Q, Elsea SH. Cappuccio G, et al. Among authors: hubert l. J Inherit Metab Dis. 2019 May;42(3):509-518. doi: 10.1002/jimd.12057. Epub 2019 Mar 5. J Inherit Metab Dis. 2019. PMID: 30684275 Free PMC article.

2

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.

Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Donti TR, et al. Among authors: hubert l. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. doi: 10.1016/j.ymgmr.2016.07.007. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27504266 Free PMC article.

3

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH. Wangler MF, et al. Among authors: hubert l. Genet Med. 2018 Oct;20(10):1274-1283. doi: 10.1038/gim.2017.262. Epub 2018 Feb 8. Genet Med. 2018. PMID: 29419819 Free PMC article.

4

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.

Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SH. Shayota BJ, et al. Among authors: hubert l. Mol Genet Metab. 2020 Sep-Oct;131(1-2):147-154. doi: 10.1016/j.ymgme.2020.07.013. Epub 2020 Aug 5. Mol Genet Metab. 2020. PMID: 32828637 Free PMC article.

5

Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia.

Pankowicz FP, Barzi M, Legras X, Hubert L, Mi T, Tomolonis JA, Ravishankar M, Sun Q, Yang D, Borowiak M, Sumazin P, Elsea SH, Bissig-Choisat B, Bissig KD. Pankowicz FP, et al. Among authors: hubert l. Nat Commun. 2016 Aug 30;7:12642. doi: 10.1038/ncomms12642. Nat Commun. 2016. PMID: 27572891 Free PMC article.

6

Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases.

Bellettato CM, Hubert L, Scarpa M, Wangler MF. Bellettato CM, et al. Among authors: hubert l. Pediatr Clin North Am. 2018 Apr;65(2):353-373. doi: 10.1016/j.pcl.2017.11.011. Pediatr Clin North Am. 2018. PMID: 29502918 Review.

7

Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1.

Hubert L Jr, Lin Y, Dion V, Wilson JH. Hubert L Jr, et al. Hum Mol Genet. 2011 Dec 15;20(24):4822-30. doi: 10.1093/hmg/ddr421. Epub 2011 Sep 15. Hum Mol Genet. 2011. PMID: 21926083 Free PMC article.

8

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline.

Dion V, Lin Y, Hubert L Jr, Waterland RA, Wilson JH. Dion V, et al. Among authors: hubert l jr. Hum Mol Genet. 2008 May 1;17(9):1306-17. doi: 10.1093/hmg/ddn019. Epub 2008 Feb 5. Hum Mol Genet. 2008. PMID: 18252747 Free PMC article.

9

Transcription destabilizes triplet repeats.

Lin Y, Hubert L Jr, Wilson JH. Lin Y, et al. Among authors: hubert l jr. Mol Carcinog. 2009 Apr;48(4):350-61. doi: 10.1002/mc.20488. Mol Carcinog. 2009. PMID: 18973172 Free PMC article. Review.

10

Topoisomerase 1 and single-strand break repair modulate transcription-induced CAG repeat contraction in human cells.

Hubert L Jr, Lin Y, Dion V, Wilson JH. Hubert L Jr, et al. Mol Cell Biol. 2011 Aug;31(15):3105-12. doi: 10.1128/MCB.05158-11. Epub 2011 May 31. Mol Cell Biol. 2011. PMID: 21628532 Free PMC article.

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