Defective membrane repair in dysferlin-deficient muscular dystrophy

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Spatiotemporal control of necroptotic cell death and plasma membrane recruitment using engineered MLKL domains

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Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function

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Repair and Regeneration of the Wounded Cell Membrane

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Myostatin inhibition promotes fast fibre hypertrophy but causes loss of AMP‐activated protein kinase signalling and poor exercise tolerance in a model of limb‐girdle muscular dystrophy R1/2A

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Electrophysiological analysis of healthy and dystrophic 3-D bioengineered skeletal muscle tissues

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Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

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Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration

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Proteome analysis of a plasma membrane‐enriched fraction at the placental feto‐maternal barrier

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Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

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Integrin Stimulation Favors Uptake of Macromolecules by Cardiomyocytes In Vitro

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Limb-girdle Muscular Dystrophy in Childhood

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Acinar Cell Membrane Disruption Is an Early Event in Experimental Acute Pancreatitis in Rats

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Insufficient Membrane Fusion in Dysferlin-Deficient Muscle Fibers after Heavy-Ion Irradiation

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DYSF expression in clear cell renal cell carcinoma: A retrospective study of 2 independent cohorts

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The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy

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Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy

Paulke, N. J., Fleischhacker, C., Wegener, J. B., Riedemann, G. C., Cretu, C., Mushtaq, M., Zaremba, N., Möbius, W., Zühlke, Y., Wedemeyer, J., et al. (2024) · Circulation Research · doi:10.1161/circresaha.124.324588 · Cited by 13

Muscle-specific Ryanodine receptor 1 properties underlie limb-girdle muscular dystrophy 2B/R2 progression

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Live Imaging Assay for Assessing the Roles of Ca2+ and Sphingomyelinase in the Repair of Pore-forming Toxin Wounds

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Plasma membrane disruption (PMD) formation and repair in mechanosensitive tissues

Hagan, M. L., Balayan, V., & McGee‐Lawrence, M. E. (2021) · Bone · doi:10.1016/j.bone.2021.115970 · Cited by 13

Dominant-negative p53-overexpression in skeletal muscle induces cell death and fiber atrophy in rats

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Dysferlin and Other Non-Red Cell Proteins Accumulate in the Red Cell Membrane of Diamond-Blackfan Anemia Patients

Pesciotta, E. N., Sriswasdi, S., Tang, H., Speicher, D. W., Mason, P. J., & Bessler, M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0085504 · Cited by 13

FER-1/Dysferlin promotes cholinergic signaling at the neuromuscular junction in C. elegans and mice

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Membrane Repair Assay for Human Skeletal Muscle Cells

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Detection of dysferlin gene pathogenic variants in the Indian Population in patients predicted to have a dysferlinopathy using a blood-based monocyte assay and clinical algorithm: A model for accurate and cost-effective diagnosis

Dastur, R., Gaitonde, P., Kachwala, M., Nallamilli, B. R. R., Ankala, A., Khadilkar, S., Nalini, A., Gayathri, N., Meena, A., Rufibach, L., et al. (2017) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_129_17 · Cited by 13

The SLMAP/Striatin complex: An emerging regulator of normal and abnormal cardiac excitation-contraction coupling

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High-Throughput Microplate-Based Assay to Monitor Plasma Membrane Wounding and Repair

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Neuromuscular Disorders in Zebrafish: State of the Art and Future Perspectives

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Cryo-EM structures of the membrane repair protein dysferlin

Huang, H.-L., Grandinetti, G., Heissler, S. M., & Chinthalapudi, K. (2024) · Nature Communications · doi:10.1038/s41467-024-53773-6 · Cited by 12

Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy

Escobar, H., Francescantonio, S. D., Smirnova, J., Graf, R., Müthel, S., Marg, A., Zhogov, A., Krishna, S., Metzler, E., Petkova, M. V., et al. (2025) · Nature Communications · doi:10.1038/s41467-024-55086-0 · Cited by 12

Skeletal muscle disorders as risk factors for type 2 diabetes

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Analysing regenerative potential in zebrafish models of congenital muscular dystrophy

Wood, A. J., & Currie, P. D. (2014) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2014.10.021 · Cited by 12

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

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Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb-Girdle muscular dystrophy type 2B

White, Z. R., Milad, N., Tehrani, A. Y., Chen, W. W., Donen, G., Sellers, S., & Bernatchez, P. N. (2019) · PLoS ONE · doi:10.1371/journal.pone.0220903 · Cited by 12

Elevated Ca2+ at the triad junction underlies dysregulation of Ca2+ signaling in dysferlin-null skeletal muscle

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Novel DYSF mutations in Thai patients with distal myopathy

Liewluck, T., Pongpakdee, S., Witoonpanich, R., Sangruchi, T., Pho‐iam, T., Limwongse, C., Thongnoppakhun, W., Boonyapisit, K., Sopassathit, V., Phudhichareonrat, S., et al. (2009) · Clinical Neurology and Neurosurgery · doi:10.1016/j.clineuro.2009.05.001 · Cited by 12

Ischemia reperfusion injury provokes adverse left ventricular remodeling in dysferlin-deficient hearts through a pathway that involves TIRAP dependent signaling

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Multi-Cellular Functions of MG53 in Muscle Calcium Signaling and Regeneration

Benissan‐Messan, D., Zhu, H., Zhong, W., Tan, T., Ma, J., & Lee, P. H. U. (2020) · Frontiers in Physiology · doi:10.3389/fphys.2020.583393 · Cited by 12

RNA‐Seq identifies genes whose proteins are upregulated during syncytia development in murine C2C12 myoblasts and human BeWo trophoblasts

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Dysferlin deficiency blunts β‐adrenergic‐dependent lusitropic function of mouse heart

Wei, B., Wei, H., & Jin, J. (2015) · The Journal of Physiology · doi:10.1113/jp271225 · Cited by 12

Bone Marrow Transplantation in Dysferlin-Deficient Mice Results in a Mild Functional Improvement

Flix, B., Suárez‐Calvet, X., Díaz‐Manera, J., Santos-Nogueira, E., Mancuso, R., Barquinero, J., Navas‐Madroñal, M., Navarro, X., Illa, I., & Gallardo, E. (2013) · Stem Cells and Development · doi:10.1089/scd.2013.0049 · Cited by 12

Thermoneutral Housing and a Western Diet Combination Exacerbates Dysferlin‐Deficient Muscular Dystrophy

Donen, G., White, Z. R., Sauge, E., Ritso, M., Théret, M., Boyd, J. H., Devlin, A. M., Rossi, F. M. V., & Bernatchez, P. N. (2022) · Muscle & Nerve · doi:10.1002/mus.27680 · Cited by 11

Exercise-Induced Muscle Damage and Protein Intake: A Bibliometric and Visual Analysis

Xu, F., Zeng, J., Liu, X., Lai, J., & Xu, J. (2022) · Nutrients · doi:10.3390/nu14204288 · Cited by 11

Plasma membrane repair empowers the necrotic survivors as innate immune modulators

Xu, S., Yang, T. J., Xu, S., & Gong, Y. (2023) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2023.08.001 · Cited by 13

Modelling the maternal‐fetal interface: An in vitro approach to investigate nutrient and drug transport across the human placenta

Fuenzalida, B., Basler, V., Koechli, N., Nan, Y., Štaud, F., & Albrecht, C. (2024) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.70151 · Cited by 11

Translational Research in Nucleic Acid Therapies for Muscular Dystrophies

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Innovation in culture systems to study muscle complexity

Moyle, L. A., Davoudi, S., & Gilbert, P. M. (2021) · Experimental Cell Research · doi:10.1016/j.yexcr.2021.112966 · Cited by 13

Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins

Lloyd, E. M., Pinniger, G. J., Grounds, M. D., & Murphy, R. M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms24010076 · Cited by 11

Annexin‐A5 and annexin‐A6 silencing prevents metastasis of breast cancer cells in zebrafish

Gounou, C., Bouvet, F., Liet, B., Prouzet‐Mauleon, V., d'Agata, L., Harté, E., Argoul, F., Siegfried, G., Iggo, R. D., Khatib, A., et al. (2023) · Biology of the Cell · doi:10.1111/boc.202200110 · Cited by 11

The Dysferlin C2A Domain Binds PI(4,5)P2 and Penetrates Membranes

Kwok, E., Otto, S. C., Khuu, P. A., Carpenter, A. P., Codding, S. J., Reardon, P. N., Vanegas, J. M., Kumar, T. M., Kuykendall, C. J., Mehl, R. A., et al. (2023) · Journal of Molecular Biology · doi:10.1016/j.jmb.2023.168193 · Cited by 11

Experimental models as a tool for research on sarcopenia: A narrative review

Alonso-Puyo, J., Izagirre-Fernandez, O., Crende, O., Valdivia, A., García-Gallastegui, P., & Sanz, B. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102534 · Cited by 11

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

Begam, M., Collier, A. F., Mueller, A. L., Roche, R., Galen, S. S., & Roche, J. A. (2018) · Physiological Reports · doi:10.14814/phy2.13727 · Cited by 11

Unconventional roles for membrane traffic proteins in response to muscle membrane stress

Vassilopoulos, S. (2020) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2020.02.007 · Cited by 12

Advances in Treatments in Muscular Dystrophies and Motor Neuron Disorders

Roy, B., & Griggs, R. C. (2020) · Neurologic Clinics · doi:10.1016/j.ncl.2020.09.005 · Cited by 11

Yolk granule tethering: a role in cell resealing and identification of several protein components

McNeil, A. K., & McNeil, P. L. (2005) · Journal of Cell Science · doi:10.1242/jcs.02593 · Cited by 11

Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients

de la Torre, C., Illa, I., Faulkner, G., Soria, L., Robles-Cedeño, R., Domínguez‐Perles, R., de Luna, N., & Gallardo, E. (2009) · PROTEOMICS - CLINICAL APPLICATIONS · doi:10.1002/prca.200800087 · Cited by 11

Dysferlinopathie als extrahepatische Ursache von Transaminasenerhöhungen

Brüss, M., Homann, J., & Molderings, G. J. (2004) · Medizinische Klinik - Intensivmedizin und Notfallmedizin · doi:10.1007/s00063-004-1046-1 · Cited by 11

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, R. A., Evesson, F. J., Lek, A., Driemer, B., Sutton, R. B., & Cooper, S. T. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.790014 · Cited by 11

The role of ESCRT-III and Annexin V in the repair of cell membrane permeabilization by the nanosecond pulsed electric field

Muratori, C., Šilkūnienė, G., Mollica, P. A., Pakhomov, A. G., & Pakhomova, O. N. (2021) · Bioelectrochemistry · doi:10.1016/j.bioelechem.2021.107837 · Cited by 11

A new twist on plasma membrane repair

Mellgren, R. L. (2011) · Communicative & Integrative Biology · doi:10.4161/cib.4.2.14384 · Cited by 11

Activation of SIRT1 promotes membrane resealing via cortactin

Iwahara, N., Azekami, K., Hosoda, R., Nojima, I., Hisahara, S., & Kuno, A. (2022) · Scientific Reports · doi:10.1038/s41598-022-19136-1 · Cited by 10

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

Yasa, J., Reed, C. E., Bournazos, A., Evesson, F. J., Pang, C. N. I., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T. A., et al. (2023) · Acta Neuropathologica Communications · doi:10.1186/s40478-022-01473-x · Cited by 10

Macrophage cell therapy enabled by interleukin-4 mRNA-loaded lipid nanoparticles to sustain a pro-reparative phenotype in inflammatory injuries

O'Brien, E. M., Tylek, T., Geisler, H. C., Mukalel, A. J., Whitaker, R. C., Sung, S., Binder‐Markey, B. I., Weissman, D., Mitchell, M. J., & Spiller, K. L. (2025) · Biomaterials · doi:10.1016/j.biomaterials.2025.123869 · Cited by 11

Cloning, expression, and preliminary characterization of the dysferlin tegument protein in Schistosoma japonicum

Xiong, Y., Ai, D., Meng, P., Wei, M., Hong, Y., Zhang, M., Huang, L., Fu, Z., Shi, Y., & Lin, J. (2013) · Parasitology International · doi:10.1016/j.parint.2013.07.008 · Cited by 10

MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B

Aguennouz, M., Giudice, C. L., Licata, N., Rodolico, C., Musumeci, O., Fanin, M., Migliorato, A., Ragusa, M., Macaione, V., Giorgio, R. M. D., et al. (2016) · Cell Biochemistry and Function · doi:10.1002/cbf.3202 · Cited by 10

Distinct amino acid motifs carrying multiple positive charges regulate membrane targeting of dysferlin and MG53

Zhou, L., Middel, V., Reischl, M., Strähle, U., & Nienhaus, G. U. (2018) · PLoS ONE · doi:10.1371/journal.pone.0202052 · Cited by 10

Null variants in DYSF result in earlier symptom onset

Park, H. J., Hong, Y. B., Hong, J., Yun, U., Kim, S. W., Shin, H. Y., Kim, S. M., & Choi, Y. (2020) · Clinical Genetics · doi:10.1111/cge.13887 · Cited by 10

Immunoproteasome Inhibition Ameliorates Aged Dystrophic Mouse Muscle Environment

Tripodi, L., Molinaro, D., Fortunato, F., Mella, C., Cassani, B., Torrente, Y., & Farini, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232314657 · Cited by 10

Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy

Guha, T. K., Pichavant, C., & Calos, M. P. (2019) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2019.10.002 · Cited by 10

Enhancing membrane repair increases regeneration in a sciatic injury model

Paleo, B. J., Madalena, K. M., Mital, R., McElhanon, K. E., Kwiatkowski, T. A., Rose, A., Lerch, J. K., & Weisleder, N. L. (2020) · PLoS ONE · doi:10.1371/journal.pone.0231194 · Cited by 10

In vitro assay for the efficacy assessment of AAV vectors expressing microdystrophin

Danilov, K. A., Vassilieva, S. G., Polikarpova, A. V., Starikova, A. V., Shmidt, A. A., Galkin, I. I., Tsitrina, A. A., Egorova, T. V., Orlov, S. N., & Kotelevtsev, Y. V. (2020) · Experimental Cell Research · doi:10.1016/j.yexcr.2020.112033 · Cited by 10

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

Vernengo, L., Oliveira, J., Krahn, M., Vieira, E., Santos, R., Carrasco, L., Negrão, L., Panuncio, A., Leturcq, F., Labelle, V., et al. (2011) · Neuromuscular Disorders · doi:10.1016/j.nmd.2011.02.003 · Cited by 10

Comparative Gene Expression Analysis in the Skeletal Muscles of Dysferlin-deficient SJL/J and A/J Mice

Kobayashi, K., Izawa, T., Kuwamura, M., & Yamate, J. (2011) · Journal of Toxicologic Pathology · doi:10.1293/tox.24.49 · Cited by 10

Equal Force Recovery in Dysferlin‐Deficient and Wild‐Type Muscles Following Saponin Exposure

Zhao, P., Xu, L. M., Mou, Y. A., de Tombe, P. P., & Han, R. (2011) · BioMed Research International · doi:10.1155/2011/235216 · Cited by 10

An autopsy case of a dysferlinopathy patient with cardiac involvement

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A cytoskeletal tropomyosin can compromise the structural integrity of skeletal muscle

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