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Items: 1 to 20 of 147

1.

DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B.

Ma J, Pichavant C, du Bois H, Bhakta M, Calos MP.

Mol Ther Methods Clin Dev. 2017 Oct 24;7:123-131. doi: 10.1016/j.omtm.2017.10.005. eCollection 2017 Dec 15.

2.

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P.

Woolger N, Bournazos A, Sophocleous RA, Evesson FJ, Lek A, Driemer B, Sutton RB, Cooper ST.

J Biol Chem. 2017 Nov 10;292(45):18577-18591. doi: 10.1074/jbc.M117.790014. Epub 2017 Sep 13.

PMID:
28904177
3.

Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B.

Gushchina LV, Bhattacharya S, McElhanon KE, Choi JH, Manring H, Beck EX, Alloush J, Weisleder N.

Mol Ther. 2017 Oct 4;25(10):2360-2371. doi: 10.1016/j.ymthe.2017.06.025. Epub 2017 Jul 3.

PMID:
28750735
4.

Muscle cell communication in development and repair.

Demonbreun AR, McNally EM.

Curr Opin Pharmacol. 2017 Jun;34:7-14. doi: 10.1016/j.coph.2017.03.008. Epub 2017 Apr 15. Review.

PMID:
28419894
5.

Estimating the prevalence of functional exonic splice regulatory information.

Savisaar R, Hurst LD.

Hum Genet. 2017 Sep;136(9):1059-1078. doi: 10.1007/s00439-017-1798-3. Epub 2017 Apr 12. Review.

6.

Genetic screen in Drosophila muscle identifies autophagy-mediated T-tubule remodeling and a Rab2 role in autophagy.

Fujita N, Huang W, Lin TH, Groulx JF, Jean S, Nguyen J, Kuchitsu Y, Koyama-Honda I, Mizushima N, Fukuda M, Kiger AA.

Elife. 2017 Jan 7;6. pii: e23367. doi: 10.7554/eLife.23367.

7.
8.

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells.

Barthélémy F, Blouin C, Wein N, Mouly V, Courrier S, Dionnet E, Kergourlay V, Mathieu Y, Garcia L, Butler-Browne G, Lamaze C, Lévy N, Krahn M, Bartoli M.

J Neuromuscul Dis. 2015 Sep 2;2(3):281-290.

9.

Dysferlin mutations and mitochondrial dysfunction.

Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2016 Nov;26(11):782-788. doi: 10.1016/j.nmd.2016.08.008. Epub 2016 Aug 29.

10.

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

Jin SQ, Yu M, Zhang W, Lyu H, Yuan Y, Wang ZX.

Chin Med J (Engl). 2016 Oct 5;129(19):2287-93. doi: 10.4103/0366-6999.190671.

11.

Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.

Middel V, Zhou L, Takamiya M, Beil T, Shahid M, Roostalu U, Grabher C, Rastegar S, Reischl M, Nienhaus GU, Strähle U.

Nat Commun. 2016 Sep 19;7:12875. doi: 10.1038/ncomms12875.

12.

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium.

Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug.

13.

Neuromuscular disorders: genes, genetic counseling and therapeutic trials.

Zatz M, Passos-Bueno MR, Vainzof M.

Genet Mol Biol. 2016 Jul-Sep;39(3):339-48. doi: 10.1590/1678-4685-GMB-2016-0019.

14.

Screening two mutations in the dysferlin gene by exon capture and sequence analysis: A case report.

Wang X, Yang Y, Zhou R.

Exp Ther Med. 2016 Jul;12(1):41-44. Epub 2016 May 11.

15.

The Dysferlin Domain-Only Protein, Spo73, Is Required for Prospore Membrane Extension in Saccharomyces cerevisiae.

Okumura Y, Nakamura TS, Tanaka T, Inoue I, Suda Y, Takahashi T, Nakanishi H, Nakamura S, Gao XD, Tachikawa H.

mSphere. 2015 Dec 16;1(1). pii: e00038-15. doi: 10.1128/mSphere.00038-15. eCollection 2016 Jan-Feb.

16.

An actin-dependent annexin complex mediates plasma membrane repair in muscle.

Demonbreun AR, Quattrocelli M, Barefield DY, Allen MV, Swanson KE, McNally EM.

J Cell Biol. 2016 Jun 20;213(6):705-18. doi: 10.1083/jcb.201512022. Epub 2016 Jun 13.

17.

Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption.

Demonbreun AR, Allen MV, Warner JL, Barefield DY, Krishnan S, Swanson KE, Earley JU, McNally EM.

Am J Pathol. 2016 Jun;186(6):1610-22. doi: 10.1016/j.ajpath.2016.02.005. Epub 2016 Apr 9.

18.

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB.

Muscle Nerve. 2016 Oct;54(4):690-5. doi: 10.1002/mus.25094. Epub 2016 Aug 24.

19.

High expression of myoferlin is associated with poor outcome in oropharyngeal squamous cell carcinoma patients and is inversely associated with HPV-status.

Kumar B, Brown NV, Swanson BJ, Schmitt AC, Old M, Ozer E, Agrawal A, Schuller DE, Teknos TN, Kumar P.

Oncotarget. 2016 Apr 5;7(14):18665-77. doi: 10.18632/oncotarget.7625.

20.

Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient Muscle.

Escobar H, Schöwel V, Spuler S, Marg A, Izsvák Z.

Mol Ther Nucleic Acids. 2016 Jan 19;5:e277. doi: 10.1038/mtna.2015.52.

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