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Items: 14

Select item 87181361.

Secreted acid sphingomyelinase as a potential gene therapy for limb girdle muscular dystrophy 2B

Daniel C. Bittel, Sen Chandra Sreetama, Goutam Chandra, Robin Ziegler, Kanneboyina Nagaraju, Jack H. Van der Meulen, Jyoti K. Jaiswal

J Clin Invest. 2022 Jan 4; 132(1): e141295. Published online 2022 Jan 4. doi: 10.1172/JCI141295

PMCID:: PMC8718136

Abstract Article PDF–10M

Select item 76973842.

Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes

Esther Fernández-Simón, Cinta Lleixà, Xavier Suarez-Calvet, Jordi Diaz-Manera, Isabel Illa, Eduard Gallardo, Noemí de Luna

BMC Musculoskelet Disord. 2020; 21: 784. Published online 2020 Nov 27. doi: 10.1186/s12891-020-03756-7

PMCID:: PMC7697384

Abstract Article PDF–3.5M

Select item 58015533.

Effect of Ibuprofen on Skeletal Muscle of Dysferlin-Null Mice

Alyssa F. Collier, Jessica Gumerson, Kimmo Lehtimäki, Jukka Puoliväli, Jace W. Jones, Maureen A. Kane, Sankeerth Manne, Andrea O’Neill, Hillarie P. Windish, Toni Ahtoniemi, Bradley A. Williams, Douglas E. Albrecht, Robert J. Bloch

J Pharmacol Exp Ther. 2018 Mar; 364(3): 409–419. Published online 2018 Mar. doi: 10.1124/jpet.117.244244

PMCID:: PMC5801553

Abstract Article PDF–1.2M

Select item 55382274.

Coupling of excitation to Ca²⁺ release is modulated by dysferlin

Valeriy Lukyanenko, Joaquin M. Muriel, Robert J. Bloch

J Physiol. 2017 Aug 1; 595(15): 5191–5207. Published online 2017 Jun 26. doi: 10.1113/JP274515

PMCID:: PMC5538227

Abstract Article PDF–1.3M

Select item 49011365.

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

Alexis R. Demonbreun, Madison V. Allen, James L. Warner, David Y. Barefield, Swathi Krishnan, Kaitlin E. Swanson, Judy U. Earley, Elizabeth M. McNally

Am J Pathol. 2016 Jun; 186(6): 1610–1622. doi: 10.1016/j.ajpath.2016.02.005

PMCID:: PMC4901136

Abstract Article PDF–3.2M

Select item 48962636.

The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes

Luis A. Cea, Jorge A. Bevilacqua, Christian Arriagada, Ana María Cárdenas, Anne Bigot, Vincent Mouly, Juan C. Sáez, Pablo Caviedes

BMC Cell Biol. 2016; 17(Suppl 1): 15. Published online 2016 May 24. doi: 10.1186/s12860-016-0096-6

PMCID:: PMC4896263

Abstract Article PDF–2.0M

Select item 40190557.

Na⁺ Dysregulation Coupled with Ca²⁺ Entry through NCX1 Promotes Muscular Dystrophy in Mice

Adam R. Burr, Douglas P. Millay, Sanjeewa A. Goonasekera, Ki Ho Park, Michelle A. Sargent, James Collins, Francisco Altamirano, Kenneth D. Philipson, Paul D. Allen, Jianjie Ma, José Rafael López, Jeffery D. Molkentin

Mol Cell Biol. 2014 Jun; 34(11): 1991–2002. doi: 10.1128/MCB.00339-14

PMCID:: PMC4019055

Abstract Article PDF–3.3M

Select item 38707218.

Dysferlin stabilizes stress-induced Ca²⁺ signaling in the transverse tubule membrane

Jaclyn P. Kerr, Andrew P. Ziman, Amber L. Mueller, Joaquin M. Muriel, Emily Kleinhans-Welte, Jessica D. Gumerson, Steven S. Vogel, Christopher W. Ward, Joseph A. Roche, Robert J. Bloch

Proc Natl Acad Sci U S A. 2013 Dec 17; 110(51): 20831–20836. Published online 2013 Dec 3. doi: 10.1073/pnas.1307960110

PMCID:: PMC3870721

Abstract Article PDF–1.1M

Select item 33230389.

Proteasomal Inhibition Restores Biological Function of Mis-sense Mutated Dysferlin in Patient-derived Muscle Cells

Bilal A. Azakir, Sabrina Di Fulvio, Jochen Kinter, Michael Sinnreich

J Biol Chem. 2012 Mar 23; 287(13): 10344–10354. Published online 2012 Feb 8. doi: 10.1074/jbc.M111.329078

Retraction in:: J Biol Chem. 2017 Jul 28; 292(30): 12542.

PMCID:: PMC3323038

Abstract Article

Select item 713263110.

AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy

Hiroya Ono, Naoki Suzuki, Shin-ichiro Kanno, Genri Kawahara, Rumiko Izumi, Toshiaki Takahashi, Yasuo Kitajima, Shion Osana, Naoko Nakamura, Tetsuya Akiyama, Kensuke Ikeda, Tomomi Shijo, Shio Mitsuzawa, Ryoichi Nagatomi, Nobukazu Araki, Akira Yasui, Hitoshi Warita, Yukiko K. Hayashi, Katsuya Miyake, Masashi Aoki

Mol Ther. 2020 Apr 8; 28(4): 1133–1153. Published online 2020 Feb 12. doi: 10.1016/j.ymthe.2020.02.006

PMCID:: PMC7132631

Abstract Article PDF–4.8M

Select item 599531411.

Diltiazem improves contractile properties of skeletal muscle in dysferlin‐deficient BLAJ mice, but does not reduce contraction‐induced muscle damage

Morium Begam, Alyssa F. Collier, Amber L. Mueller, Renuka Roche, Sujay S. Galen, Joseph A. Roche

Physiol Rep. 2018 Jun; 6(11): e13727. Published online 2018 Jun 10. doi: 10.14814/phy2.13727

PMCID:: PMC5995314

Abstract Article PDF–2.4M

Select item 506258112.

Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy

Danielle A. Griffin, Ryan W. Johnson, Jarred M. Whitlock, Eric R. Pozsgai, Kristin N. Heller, William E. Grose, W. David Arnold, Zarife Sahenk, H. Criss Hartzell, Louise R. Rodino-Klapac

Hum Mol Genet. 2016 May 15; 25(10): 1900–1911. Published online 2016 Feb 23. doi: 10.1093/hmg/ddw063

PMCID:: PMC5062581

Abstract Article PDF–1.1M

Select item 294531513.

Characterization of Dysferlin Deficient SJL/J Mice to Assess Preclinical Drug Efficacy: Fasudil Exacerbates Muscle Disease Phenotype

Sree Rayavarapu, Jack H. Van der meulen, Heather Gordish-Dressman, Eric P. Hoffman, Kanneboyina Nagaraju, Susan M. Knoblach

PLoS One. 2010; 5(9): e12981. Published online 2010 Sep 24. doi: 10.1371/journal.pone.0012981

PMCID:: PMC2945315

Abstract Article PDF–703K

Select item 267892914.

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

Yen-Hui Chiu, Mark A. Hornsey, Lars Klinge, Louise H. Jørgensen, Steven H. Laval, Richard Charlton, Rita Barresi, Volker Straub, Hanns Lochmüller, Kate Bushby

Hum Mol Genet. 2009 Jun 1; 18(11): 1976–1989. Published online 2009 Mar 13. doi: 10.1093/hmg/ddp121

PMCID:: PMC2678929

Abstract Article PDF–792K

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PMC Articles for MedGen (Select 868238) (14)
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GEO DataSets
GSM464702[Accession] (4)
GEO DataSets
Homo sapiens zinc finger protein 615, mRNA (cDNA clone MGC:176954 IMAGE:9051937)...
Homo sapiens zinc finger protein 615, mRNA (cDNA clone MGC:176954 IMAGE:9051937), complete cds
gi|219518809|gb|BC143429.1|

Nucleotide
Homeo box A2b [Danio rerio]
Homeo box A2b [Danio rerio]
gi|190339418|gb|AAI62328.1|

Protein

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