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Items: 16

1.

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy.

Amoasii L, Hildyard JCW, Li H, Sanchez-Ortiz E, Mireault A, Caballero D, Harron R, Stathopoulou TR, Massey C, Shelton JM, Bassel-Duby R, Piercy RJ, Olson EN.

Science. 2018 Aug 30. pii: eaau1549. doi: 10.1126/science.aau1549. [Epub ahead of print]

PMID:
30166439
2.

Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy.

Amoasii L, Long C, Li H, Mireault AA, Shelton JM, Sanchez-Ortiz E, McAnally JR, Bhattacharyya S, Schmidt F, Grimm D, Hauschka SD, Bassel-Duby R, Olson EN.

Sci Transl Med. 2017 Nov 29;9(418). pii: eaan8081. doi: 10.1126/scitranslmed.aan8081. Erratum in: Sci Transl Med. 2018 Jan 24;10 (425):.

3.

Control of Muscle Metabolism by the Mediator Complex.

Amoasii L, Olson EN, Bassel-Duby R.

Cold Spring Harb Perspect Med. 2018 Feb 1;8(2). pii: a029843. doi: 10.1101/cshperspect.a029843. Review.

4.

Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review.

Long C, Amoasii L, Bassel-Duby R, Olson EN.

JAMA Neurol. 2016 Nov 1;73(11):1349-1355. doi: 10.1001/jamaneurol.2016.3388. Review.

5.

MED12 Regulates HSC-Specific Enhancers Independently of Mediator Kinase Activity to Control Hematopoiesis.

Aranda-Orgilles B, Saldaña-Meyer R, Wang E, Trompouki E, Fassl A, Lau S, Mullenders J, Rocha PP, Raviram R, Guillamot M, Sánchez-Díaz M, Wang K, Kayembe C, Zhang N, Amoasii L, Choudhuri A, Skok JA, Schober M, Reinberg D, Sicinski P, Schrewe H, Tsirigos A, Zon LI, Aifantis I.

Cell Stem Cell. 2016 Dec 1;19(6):784-799. doi: 10.1016/j.stem.2016.08.004. Epub 2016 Aug 25.

6.

A MED13-dependent skeletal muscle gene program controls systemic glucose homeostasis and hepatic metabolism.

Amoasii L, Holland W, Sanchez-Ortiz E, Baskin KK, Pearson M, Burgess SC, Nelson BR, Bassel-Duby R, Olson EN.

Genes Dev. 2016 Feb 15;30(4):434-46. doi: 10.1101/gad.273128.115.

7.

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy.

Long C, Amoasii L, Mireault AA, McAnally JR, Li H, Sanchez-Ortiz E, Bhattacharyya S, Shelton JM, Bassel-Duby R, Olson EN.

Science. 2016 Jan 22;351(6271):400-3. doi: 10.1126/science.aad5725. Epub 2015 Dec 31.

8.

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH.

PLoS Genet. 2013 Jun;9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20.

9.

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.

Al-Qusairi L, Prokic I, Amoasii L, Kretz C, Messaddeq N, Mandel JL, Laporte J.

FASEB J. 2013 Aug;27(8):3384-94. doi: 10.1096/fj.12-220947. Epub 2013 May 21.

PMID:
23695157
10.

Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.

Amoasii L, Hnia K, Chicanne G, Brech A, Cowling BS, Müller MM, Schwab Y, Koebel P, Ferry A, Payrastre B, Laporte J.

J Cell Sci. 2013 Apr 15;126(Pt 8):1806-19. doi: 10.1242/jcs.118505. Epub 2013 Feb 26.

11.

Myotubularin phosphoinositide phosphatases in human diseases.

Amoasii L, Hnia K, Laporte J.

Curr Top Microbiol Immunol. 2012;362:209-33. doi: 10.1007/978-94-007-5025-8_10. Review.

PMID:
23086420
12.

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S.

PLoS Genet. 2012;8(10):e1002965. doi: 10.1371/journal.pgen.1002965. Epub 2012 Oct 11.

13.

Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle.

Hnia K, Kretz C, Amoasii L, Böhm J, Liu X, Messaddeq N, Qu CK, Laporte J.

Adv Biol Regul. 2012 Jan;52(1):98-107. No abstract available.

PMID:
21930146
14.

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.

Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J.

Am J Pathol. 2011 May;178(5):2224-35. doi: 10.1016/j.ajpath.2011.01.054.

15.

Receptor activator of NF-kappaB (RANK) stimulates the proliferation of epithelial cells of the epidermo-pilosebaceous unit.

Duheron V, Hess E, Duval M, Decossas M, Castaneda B, Klöpper JE, Amoasii L, Barbaroux JB, Williams IR, Yagita H, Penninger J, Choi Y, Lézot F, Groves R, Paus R, Mueller CG.

Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5342-7. doi: 10.1073/pnas.1013054108. Epub 2011 Mar 14.

16.

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J.

J Clin Invest. 2011 Jan;121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6.

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