DYSFERLIN BACKGROUND

Dysferlin Publications

DYSFERLIN BACKGROUND

Dysferlin Publications

Home  ❯  Research  ❯  Dysferlin Background  ❯  Dysferlin Publications

Dysferlin Publications

Below is a bibliography of dysferlin and dysferlinopathy research, published over the last 5 years, that we feel would be helpful to researchers studying dysferlinopathy. This is not an exhaustive list of dysferlin-related papers.

To read the papers, select to expand the category below and then click on the title of the paper listed. Note: Papers in orange are part of the Jain Foundation’s research program – either fully or partially funded by the Jain Foundation or co-authored by Jain Foundation staff.

“Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy,” Rufibach L, Berger K, Chakravorty S, Emmons S, Long L, Gibson G, Hegde M. J Pers Med. 2023 Mar 13;13(3):520.

“Identification of a novel heterozygous DYSF variant in a large family with a dominantly inherited dysferlinopathy,” Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, et al., Neuropathol Appl Neurobiol. 2022 Aug 12:e12846.

“Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients,” Charnay T, Blanck V, Cerino M, Bartoli M, Riccardi F, Bonello-Palot N, et al.; Genet Med. 2021 Aug;23(8):1574-1577.

“A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film.” Cox D, Henderson M, Straub V, Barresi R., Neuromuscul Disord. 2019 Nov;29(11):874-880.

“Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.” Liu W, Pajusalu S, Lake NJ, Zhou G, Ioannidis N, et al. Genet Med. 2019 Nov;21(11):2512-2520.

“Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy.” Borland H, Moore U, Dressman HG, Human A, Mayhew AG, Hilsden H, Rufibach LE, Duong T, Maron E, DeWolf B, Rose K, Siener C, Thiele S, Práxedes NS, Canal A, Holsten S, Sakamoto C, Pedrosa-Hernández I, Bello L, Alfano LN, Lowes LP The Jain COS Consortium, James MK, Straub V. Neuromuscul Disord. 2024 Oct;43:20-28. doi: 10.1016/j.nmd.2024.08.003. Epub 2024 Aug 14. PMID: 39178649..

“Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases,”Bolano-Diaz C, Verdú-Díaz J, Gonzalez-Chamorro A, Fitzsimmons S, Veeranki G, Straub V, Diaz-Manera J. Neuromuscul Disord. 2024 Jan;34:54-60.

“Water T2 could predict functional decline in patients with dysferlinopathy,” Moore U, Caldas de Almeida Araújo E, Reyngoudt H, Gordish-Dressman H, Smith FE, et al., J Cachexia Sarcopenia Muscle. 2022 Dec;13(6):2888-2897.

“Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies,” James MK, Alfano LN, Muni-Lofra R, Reash NF, Sodhi J, et al., Phys Ther. 2022 Aug 6:pzac113.

“Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale,” Jacobs MB, James MK, Lowes LP, Alfano LN, Eagle M,, et al., Ann Neurol. 2021 Feb 11. doi: 10.1002/ana.26044.

“Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy,” Reyngoudt H, Smith FE, Caldas de Almeida Araújo E, Wilson I, Fernández-Torrón R, et al., J Cachexia Sarcopenia Muscle. 2022 Jun;13(3):1850-1863.

“Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study,” Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, et al., Muscle Nerve. 2022 May;65(5):531-540.

 “Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease,” Moore U, Gordish H, Diaz-Manera J, James M, et al., Neuromuscul Disord. 2021 Apr;31(4):265-280.

“Cryo-EM structures of the membrane repair protein.” Huang HL, Grandinetti G, Heissler SM, Chinthalapudi K. Nat Commun. 2024 Nov 7:15(1):9650.doi:10.1038/841467-024-53773-6. PMID: 39511170; PMCID: PMC 11544258

“The Dysferlin C2A Domain Binds PI(4,5)P2 and Penetrates Membranes,” Kwok E, Otto SC, Khuu P, Carpenter AP, Codding SJ, Reardon PN, Vanegas J, Kumar TM, Kuykendall CJ, Mehl RA, Baio J, Johnson CP.J Mol Biol. 2023 Sep 1;435(17):168193.

“Orientation of the Dysferlin C2A Domain is Responsive to the Composition of Lipid Membranes,” Carpenter AP, Khuu P, Weidner T, Johnson CP, Roeters SJ, Baio JE., J Phys Chem B. 2023 Jan 19;127(2):577-589. doi: 10.1021/acs.jpcb.2c06716.

“Redefining the architecture of ferlin proteins: Insights into multi-domain protein structure and function,” Dominguez MJ, McCord JJ, Sutton RB., PLoS One. 2022 Jul 28;17(7):e0270188.

“Calcium binds and rigidifies the dysferlin C2A domain in a tightly coupled manner.” Wang Y, Tadayon R, Santamaria L, Mercier P, Forristal CJ, Shaw GS, Biochem J. 2021 Jan 15;478(1):197-215.

“Direct Evidence That Mutations within Dysferlin’s C2A Domain Inhibit Lipid Clustering,” Golbek TW, Otto SC, Roeters SJ, Weidner T, Johnson CP, Baio JE, J Phys Chem B. 2021 Jan 14;125(1):148-157.

“Apolipoprotein E knockout, but not cholesteryl ester transfer protein (CETP)-associated high-density lipoprotein cholesterol (HDL-C) lowering, exacerbates muscle wasting in dysferlin-null mice.” Sun Z, White Z, Theret M, Bernatchez P. Lipids Health Dis. 2024 Aug 13;23(1):247. doi: 10.1186/s12944-024-02227-5. PMID: 39138561; PMCID: PMC11321019..

“Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice,” White Z, Sun Z, Sauge E, Cox D, Donen G, Pechkovsky D, Straub V, Francis GA, Bernatchez P., Skelet Muscle. 2022 Nov 29;12(1):25.

“Effect of Dysferlin Deficiency on Atherosclerosis and Plasma Lipoprotein Composition Under Normal and Hyperlipidemic Conditions,” White Z, Milad N, Sellers SL, Bernatchez P; Front Physiol. 2021 Jul 22;12:675322.

“Insights into lipid accumulation in skeletal muscle in dysferlin-deficient mice.” Agarwal AK, Tunison K, Mitsche MA, McDonald JG, Garg A., J Lipid Res. 2019 Dec;60(12):2057-2073.

“Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice,” Haynes VR, Keenan SN, Bayliss J, Lloyd EM, Meikle PJ, Grounds MD, Watt MJ, J Lipid Res. 2019 Aug;60(8):1350-1364.

“Multimodal three-dimensional characterization of murine skeletal muscle micro-scale elasticity, structure and composition: Impact of dysferlinopathy, Duchenne muscular dystrophy and age on three hind-limb muscles.” Lloyd EM, Hepburn MS, Li J, Mowla A, Jeong JH, Hwang Y, Choi YS, Jackaman C, Kennedy BF, Grounds MD. J Mech Behav Biomed Mater. 2024 Dec;160:10675.doi: 10.1016/j.jmbbm.2024.106751.Epub 2024 Sep 17. PMID 39326249.

“Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy,” Khodabukus A, Prabhu NK, Roberts T, Buldo M, Detwiler A, Fralish ZD, Kondash ME, Truskey GA, Koves TR, Bursac N. Adv Sci (Weinh). 2024 Jun 17:e2400188.

“Single-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle,” Uapinyoying P, Hogarth M, Battacharya S, Mázala DAG, Panchapakesan K, Bönnemann CG, Jaiswal JK. iScience. 2023 Jul 23;26(8):107479.

“Analysis of Dysferlin Direct Interactions with Putative Repair Proteins Links Apoptotic Signaling to Ca(2+) Elevation via PDCD6 and FKBP8,” Drescher DG, Drescher MJ, Selvakumar D, Annam NP., Int J Mol Sci. 2023 Feb 28;24(5):4707.

“Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins,” Lloyd EM, Pinniger GJ, Grounds MD, Murphy RM., Int J Mol Sci. 2022 Dec 21;24(1):76.

 “Elevated Ca(2+) at the triad junction underlies dysregulation of Ca(2+) signaling in dysferlin-null skeletal muscle,” Lukyanenko V, Muriel J, Garman D, Breydo L, Bloch RJ., Front Physiol. 2022 Nov 3;13:1032447.

 “The C2 domains of dysferlin: roles in membrane localization, Ca2+ signalling and sarcolemmal repair,” Muriel J, Lukyanenko V, Kwiatkowski T, Bhattacharya S, Garman D, Weisleder N, Bloch RJ; J Physiol. 2022 Apr;600(8):1953-1968.

“Loss of dysferlin or myoferlin results in differential defects in excitation-contraction coupling in mouse skeletal muscle,” Barefield DY, Sell JJ, Tahtah I, Kearns SD, McNally EM, Demonbreun AR; Sci Rep. 2021 Aug 5;11(1):15865.

“Ribozyme-activated mRNA tran-ligation enables large gene delivery to treat muscular dystrophies.” Lindley SR, Subbaiah KCV, Priyanka F, Poosala P, Ma Y, Jalinous L, West JA, Richardson WA, Thomas TN, Anderson DM. Science.  2024. Nov 15;386(6723):762-767. doi:10.1126/science.adp8179. Epub 2-24 Nov 14. PMID: 39541470.

“Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy.” Lloyd EM, Crew RC, Haynes VR, White RB, Mark PJ, Jackaman C, Papadimitriou JM, Pinniger GJ, Murphy RM, Watt MJ, Grounds MD. Skelet Muscle. 2024 Aug 9;14(1):19. doi: 10.1186/s13395-024-00350-6. PMID: 39123261; PMCID: PMC11312411.

“Gene-edited primary muscle stem cells rescue dysferlin-deficient muscular dystrophy.” Helena Escobar, Silvia di Francescantonio, Andreas Marg, Alexej Zhogov, Supriya Krishna, Eric Metzler, Mina Petkova, Oliver Daumke, Ralf Kühn, Simone Spuler. bioRxiv 2024.02.12.579813.

“Identification of bazedoxifene for the treatment of LGMD R2 by high throughput screening.” Celine Bruge, Nathalie Bourg, Emilie Pellier, Johana Tournois, Jerome Polentes, Manon Benabides, Noella Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, Xavier Nissan. bioRxiv 2024.02.28.582550.

“The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility.” Long AM, Kwon JM, Lee G, Reiser NL, Vaught LA, O’Brien JG, Page PGT, Hadhazy M, Reynolds JC, Crosbie RH, Demonbreun AR, McNally EM. Matrix Biol. 2024 May;129:44-58.

“Nanodysferlins support membrane repair and binding to TRIM72/MG53 but do not localize to t-tubules or stabilize Ca2+ signaling.” Muriel J, Lukyanenko V, Kwiatkowski TA, Li Y, Bhattacharya S, Banford KK, Garman D, Bulgart HR, Sutton RB, Weisleder N, Bloch RJ. Mol Ther Methods Clin Dev. 2024 Apr 26;32(2):101257.

“Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice,” Yasa J, Reed CE, Bournazos AM, Evesson FJ, Pang I, Graham ME, Wark JR, Nijagal B, Kwan KH, Kwiatkowski T, Jung R, Weisleder N, Cooper ST, Lemckert FA., Acta Neuropathol Commun. 2023 Jan 18;11(1):15.

“Evaluating Therapeutic Activity of Galectin-1 in Sarcolemma Repair of Skeletal Muscle,” Vallecillo-Zúniga ML, Rathgeber M, Poulson D, Kartchner B, Luddington J, et al., Methods Mol Biol. 2022;2442:663-683.

“Cholesterol absorption blocker ezetimibe prevents muscle wasting in severe dysferlin-deficient and mdx mice, White Z, Theret M, Milad N, Tung LW, Chen WW, et al., J Cachexia Sarcopenia Muscle. 2022 Feb;13(1):544-560.

“Secreted acid sphingomyelinase as a potential gene therapy for limb girdle muscular dystrophy 2B,” Bittel DC, Sreetama SC, Chandra G, Ziegler R, Nagaraju K, et al.; J Clin Invest. 2022 Jan 4;132(1):e141295.

“4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations,” Tominaga K, Tominaga N, Williams EO, Rufibach L, Schöwel V, et al., iScience. 2021 Dec 20;25(1):103667.

“The effects of concentric and eccentric training in murine models of dysferlin-associated muscular dystrophy,” Begam M, Roche R, Hass JJ, Basel CA, Blackmer JM, et al., Muscle Nerve. 2020 Sep;62(3):393-403. doi: 10.1002/mus.26906. Epub 2020 Jul 8.

“229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.” Straub V, Murphy A, Udd B; LGMD workshop study group. Neuromuscul Disord. 2018 Aug;28(8):702-710.

“Hip region muscular dystrophy and emergence of motor deficits in dysferlin-deficient Bla/J mice.” Nagy N, Nonneman RJ, Llanga T, Dial CF, Riddick NV, et al., Physiol Rep. 2017.