Defective membrane repair in dysferlin-deficient muscular dystrophy

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Calf-Head Sign in Miyoshi Myopathy

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Dysferlinopathy Promotes an Intramuscle Expansion of Macrophages with a Cyto-Destructive Phenotype

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Exon Skipping in a Dysf-Missense Mutant Mouse Model

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Defects in sarcolemma repair and skeletal muscle function after injury in a mouse model of Niemann-Pick type A/B disease

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Aging as a consequence of misrepair -- A novel theory of agingPreprint

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Mechanisms of Endothelial Cell Membrane Repair: Progress and Perspectives

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Skeletal Myogenesis in the Zebrafish and Its Implications for Muscle Disease Modelling

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Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation

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Impaired muscle spindle function in murine models of muscular dystrophy

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Inhibition of the membrane repair protein annexin-A2 prevents tumor invasion and metastasis

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In silico discovery and experimental validation of new protein–protein interactions

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Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations inALMS1andDYSF

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Affixin activates Rac1 via βPIX in C2C12 myoblast

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Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy

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Dysferlin deficiency confers increased susceptibility to coxsackievirus-induced cardiomyopathy

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Placental Proteomics: A Shortcut to Biological Insight

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Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle

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Dysferlinopathies: Clinical and genetic variability

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Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

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GREG cells, a dysferlin-deficient myogenic mouse cell line

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Sarcomere Disruptions of Slow Fiber Resulting From Mountain Ultramarathon

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Autoantibodies targeting TRIM72 compromise membrane repair and contribute to inflammatory myopathy

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Blockade of Hemichannels Normalizes the Differentiation Fate of Myoblasts and Features of Skeletal Muscles from Dysferlin-Deficient Mice

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Transglutaminase 2 activity promotes membrane resealing after mechanical damage in the lung cancer cell line A549

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Placental Dysferlin Expression is Reduced in Severe Preeclampsia

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Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies

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Distinct Effects of Contraction-Induced InjuryIn Vivoon Four Different Murine Models of Dysferlinopathy

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Continuous administration of poloxamer 188 reduces overload-induced muscular atrophy in dysferlin-deficient SJL mice

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Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy

Park, Y. E., Kim, H.-S., Lee, C., Nam, T., Choi, Y., & Kim, D. (2012) · Neuromuscular Disorders · doi:10.1016/j.nmd.2011.12.007 · Cited by 21

Cell repair: Revisiting the patch hypothesis

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Mechanisms of Myofibre Death in Muscular Dystrophies: The Emergence of the Regulated Forms of Necrosis in Myology

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Physical Intracellular Delivery Based on Microfluidic Technology

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Single Cell ADNP Predictive of Human Muscle Disorders: Mouse Knockdown Results in Muscle Wasting

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Recruitment of Tetraspanin TSP-15 Regulates Plasma Membrane Repair in C. elegans Epidermis

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Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice

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Role of calcium-sensor proteins in cell membrane repair

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Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies

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Anti-TNF therapy using etanercept suppresses degenerative and inflammatory changes in skeletal muscle of older SJL/J mice

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Miyoshi-like distal myopathy with mutations in anoctamin 5 gene

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Histological assessment of SJL/J mice treated with the antioxidants coenzyme Q10 and resveratrol

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Structural Basis for the Distinct Membrane Binding Activity of the Homologous C2A Domains of Myoferlin and Dysferlin

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SIRT1 deficiency interferes with membrane resealing after cell membrane injury

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Ca2+–Calmodulin Dependent Wound Repair in Dictyostelium Cell Membrane

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Treatment with galectin-1 improves myogenic potential and membrane repair in dysferlin-deficient models

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Calcium binds and rigidifies the dysferlin C2A domain in a tightly coupled manner

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Aberrant NLRP3 Inflammasome Activation Ignites the Fire of Inflammation in Neuromuscular Diseases

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Diagnostic immunohistochemistry in neuromuscular disorders

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Distal anterior compartment myopathy with early ankle contractures

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Loss of Podocyte Dysferlin Expression Is Associated With Minimal Change Nephropathy

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Early pathological signs in young dysf mice are improved by halofuginone

Barzilai-Tutsch, H., Genin, O., Pines, M., & Halevy, O. (2020) · Neuromuscular Disorders · doi:10.1016/j.nmd.2020.04.001 · Cited by 19

On the role of dysferlin in striated muscle: membrane repair, t‐tubules and Ca2+ handling

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Visualization of MG53-mediated Cell Membrane Repair Using in vivo and in vitro Systems

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Diagnostic overview of blood‐based dysferlin protein assay for dysferlinopathies

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AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy

Ono, H., Suzuki, N., Kanno, S., Kawahara, G., Izumi, R., Takahashi, T., Kitajima, Y., Osana, S., Nakamura, N., Akiyama, T., et al. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.02.006 · Cited by 19

Suppression of Vps13 adaptor protein mutants reveals a central role for PI4P in regulating prospore membrane extension

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Ca2+ roles in electroporation-induced changes of cancer cell physiology: From membrane repair to cell death

Navickaitė, D., Ruzgys, P., Maciulevičius, M., Dijk, G., O'Connor, R. P., & Šatkauskas, S. (2021) · Bioelectrochemistry · doi:10.1016/j.bioelechem.2021.107927 · Cited by 19

A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

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Phenotypic Features and Genetic Findings in 2 Chinese Families With Miyoshi Distal Myopathy

Ro, L., Lee‐Chen, G., Lin, T.-C., Wu, Y., Chen, C., Lin, C.-Y., & Chen, S. (2004) · Archives of Neurology · doi:10.1001/archneur.61.10.1594 · Cited by 19

Trafficking of Annexins during Membrane Repair in Human Skeletal Muscle Cells

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Wrangling Actin Assemblies: Actin Ring Dynamics during Cell Wound Repair

Hui, J., Stjepić, V., Nakamura, M., & Parkhurst, S. M. (2022) · Cells · doi:10.3390/cells11182777 · Cited by 18

Dynamics of Actin Cytoskeleton and Their Signaling Pathways during Cellular Wound Repair

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The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Anwar, S., & Yokota, T. (2024) · Biomolecules · doi:10.3390/biom14030256 · Cited by 18

Ex Vivo Stretch Reveals Altered Mechanical Properties of Isolated Dystrophin-Deficient Hearts

Barnabei, M. S., & Metzger, J. M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032880 · Cited by 18

Assessment of disease activity in muscular dystrophies by noninvasive imaging

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Annexin A1 is a biomarker of T‐tubular repair in skeletal muscle of nonmyopathic patients undergoing statin therapy

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Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems

Walmsley, G., Blot, S., Venner, K., Sewry, C. A., Laporte, J., Blondelle, J., Barthélémy, I., Maurer, M., Blanchard‐Gutton, N., Pilot‐Storck, F., et al. (2016) · American Journal Of Pathology · doi:10.1016/j.ajpath.2016.10.002 · Cited by 19

Torn apart: membrane rupture in muscular dystrophies and associated cardiomyopathies

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Therapeutic Benefit of Galectin-1: Beyond Membrane Repair, a Multifaceted Approach to LGMD2B

Vallecillo-Zúniga, M. L., Poulson, P. D., Luddington, J. S., Arnold, C. J., Rathgeber, M. F., Kartchner, B. C., Hayes, S., Gill, H., Valdoz, J. C., Spallino, J. L., et al. (2021) · Cells · doi:10.3390/cells10113210 · Cited by 17

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Ballouhey, O., Courrier, S., Kergourlay, V., Gorokhova, S., Cérino, M., Krahn, M., Lévy, N., & Bartoli, M. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.754555 · Cited by 17

Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy

Khodabukus, A., Prabhu, N. K., Roberts, T., Buldo, M., Detwiler, A., Fralish, Z., Kondash, M. E., Truskey, G. A., Koves, T. R., & Bursac, N. (2024) · Advanced Science · doi:10.1002/advs.202400188 · Cited by 17

Dysferlin-Peptides Reallocate Mutated Dysferlin Thereby Restoring Function

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Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.

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Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling

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Long noncoding RNA and messenger RNA abnormalities in pediatric sepsis: a preliminary study

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Generation of desminopathy in rats using CRISPR‐Cas9

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Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review

Contreras-Cubas, C., Barajas-Olmos, F. M., Frayre-Martínez, M. I., Siordia-Reyes, A. G., Guízar-Sánchez, C. C., Garcia‐Ortíz, H., Orozco, L., & Baca, V. (2022) · BMC Medical Genomics · doi:10.1186/s12920-022-01284-y · Cited by 17

The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5

Monjaret, F., Suel, L., Bourg, N., Vihola, A., Marchand, S., Roudaut, C., Gicquel, E., Udd, B., Richard, I., & Charton, K. (2013) · Human Gene Therapy Clinical Development · doi:10.1089/humc.2012.217 · Cited by 17

GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice

Lenhart, K. C., O’Neill, T. J., Cheng, Z., Dee, R., Demonbreun, A. R., Li, J., Xiao, X., McNally, E. M., Mack, C. P., & Taylor, J. M. (2015) · Skeletal Muscle · doi:10.1186/s13395-015-0054-6 · Cited by 17

The Popeye Domain Containing Genes and Their Function in Striated Muscle

Schindler, R. F. R., Scotton, C., French, V. M., Ferlini, A., & Brand, T. (2016) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd3020022 · Cited by 17

Altered membrane integrity in the progression of muscle diseases

McElhanon, K. E., & Bhattacharya, S. (2017) · Life Sciences · doi:10.1016/j.lfs.2017.11.035 · Cited by 17

Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation

Fernández, G., Arias-Bravo, G., Bevilacqua, J. A., Castillo–Ruiz, M., Caviedes, P. A., Sáez, J. C., & Cea, L. A. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.165800 · Cited by 16

Endophilin-A2 dependent tubular endocytosis promotes plasma membrane repair and parasite invasion

Corrotte, M., Cerasoli, M., Maeda, F. Y., & Andrews, N. W. (2020) · Journal of Cell Science · doi:10.1242/jcs.249524 · Cited by 16

Timescale of hole closure during plasma membrane repair estimated by calcium imaging and numerical modeling

Klenow, M. B., Heitmann, A. S. B., Nylandsted, J., & Simonsen, A. C. (2021) · Scientific Reports · doi:10.1038/s41598-021-82926-6 · Cited by 16

Sex similarities and differences in the reverse and anti-remodeling effect of pressure unloading therapy in a rat model of aortic banding and debanding

Ruppert, M., Barta, B. A., Korkmaz‐Icöz, S., Loganathan, S., Oláh, A., Sayour, A. A., Benke, K., Nagy, D., Bálint, T., Karck, M., et al. (2022) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00654.2021 · Cited by 16

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

Folland, C., Johnsen, R. D., Gomez, A. B., Trajanoski, D., Davis, M. R., Moore, U., Straub, V. W., Barresi, R., Guglieri, M., Hayhurst, H., et al. (2022) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12846 · Cited by 16

Clinical and magnetic resonance imaging features of ′diamond on quadriceps′ sign in dysferlinopathy

Pradhan, S. (2009) · Neurology India · doi:10.4103/0028-3886.51287 · Cited by 16

Full‐length dysferlin expression driven by engineered human dystrophic blood derived CD 133+ stem cells

Meregalli, M., Navarro, C. L., Sitzia, C., Farini, A., Montani, E., Wein, N., Razini, P., Beley, C., Cassinelli, L., Parolini, D., et al. (2013) · FEBS Journal · doi:10.1111/febs.12523 · Cited by 16

Capsule endoscopy examination of patients with obscure gastrointestinal bleeding: evaluation of clinical impact.

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Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.

Mahmood, O. A., Jiang, X., & Zhang, Q. (2013) · PubMed Central · doi:10.3969/j.issn.1673-5374.2013.20.010 · Cited by 15

Dysferlin-deficient Muscular Dystrophy: Gadofluorine M Suitability at MR Imaging in a Mouse Model

Schmidt, S., Vieweger, A., Obst, M., Mueller, S. G., Groß, V., Gutberlet, M., Steinbrink, J. M., Taubert, S., Misselwitz, B., Lüdemann, L., et al. (2008) · Radiology · doi:10.1148/radiol.2501080180 · Cited by 15

A promotive effect for halofuginone on membrane repair and synaptotagmin-7 levels in muscle cells of dysferlin-null mice

Barzilai-Tutsch, H., Dewulf, M., Lamaze, C., Butler-Browne, G. S., Pines, M., & Halevy, O. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy185 · Cited by 15

Vitamin E can promote spermatogenesis by regulating the expression of proteins associated with the plasma membranes and protamine biosynthesis

Gao, Y., Jian, L., Lu, W. D., Xue, Y., Macháty, Z., & Luo, H. (2021) · Gene · doi:10.1016/j.gene.2020.145364 · Cited by 15

The Role of POPDC Proteins in Cardiac Pacemaking and Conduction

Gruscheski, L., & Brand, T. (2021) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd8120160 · Cited by 15

4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations

Tominaga, K., Tominaga, N., Williams, E. O., Rufibach, L., Schoewel, V., Spuler, S., Viswanathan, M., & Guarente, L. (2021) · iScience · doi:10.1016/j.isci.2021.103667 · Cited by 15

Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair

Matsuda, C., Kiyosue, K., Nishino, I., Goto, Y., & Hayashi, Y. K. (2015) · PLoS Currents · doi:10.1371/currents.md.5865add2d766f39a0e0411d38a7ba09c · Cited by 15

Emerging Functional Differences between the Synaptotagmin and Ferlin Calcium Sensor Families

Johnson, C. P. (2017) · Biochemistry · doi:10.1021/acs.biochem.7b00928 · Cited by 15

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

Santos, R., Oliveira, J., Vieira, E., Coelho, T., Carneiro, A. L., Evangelista, T., Dias, C., Fortuna, A. M., Geraldo, A., Negrão, L., et al. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.60 · Cited by 15

The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complex

Brunn, A., Schröder, R., & Deckert, M. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0113-5 · Cited by 15

Disorders of Skeletal Muscle

Amato, A. A., & Brooke, M. H. (2008) · Elsevier eBooks · doi:10.1016/b978-0-7506-7525-3.50121-7 · Cited by 15

Wrecking Repair

(2003) · Science · doi:10.1126/science.300.5624.1343a

Patching Things Up

(2003) · Science Signaling · doi:10.1126/scisignal.1822003tw184 · Cited by 1

Repairing the tears: dysferlin in muscle membrane repair.

Doherty, K. R., & McNally, E. (2003) · Trends in Molecular Medicine · doi:10.1016/s1471-4914(03)00136-9 · Cited by 81

Dysferlin and the plasma membrane repair in muscular dystrophy

Bansal, D., & Campbell, K. P. (2004) · Trends in Cell Biology · doi:10.1016/j.tcb.2004.03.001 · Cited by 333

Dysferlin in Membrane Trafficking and Patch Repair

Glover, L. E., & Brown, R. H. (2007) · Traffic · doi:10.1111/j.1600-0854.2007.00573.x · Cited by 170