Cited by 1,022Muscle Physiology and DisordersMuscle and Compartmental DisordersCellular transport and secretion

The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.

Defective membrane repair in dysferlin-deficient muscular dystrophy

Bansal, Dimple, Miyake, Katsuya, Vogel, Steven S., Groh, Séverine, Chen, Chien-Chang, Williamson, Roger, McNeil, Paul L., Campbell, Kevin P.·2003·Nature

DOI 10.1038/nature01573

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Abstract

Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle. Mutations in dysferlin are linked to two clinically distinct muscle diseases, limb-girdle muscular dystrophy type 2B and Miyoshi myopathy, but the mechanism that leads to muscle degeneration is unknown. Dysferlin is a homologue of the Caenorhabditis elegans fer-1 gene, which mediates vesicle fusion to the plasma membrane in spermatids. Here we show that dysferlin-null mice maintain a functional dystrophin-glycoprotein complex but nevertheless develop a progressive muscular dystrophy. In normal muscle, membrane patches enriched in dysferlin can be detected in response to sarcolemma injuries. In contrast, there are sub-sarcolemmal accumulations of vesicles in dysferlin-null muscle. Membrane repair assays with a two-photon laser-scanning microscope demonstrated that wild-type muscle fibres efficiently reseal their sarcolemma in the presence of Ca2+. Interestingly, dysferlin-deficient muscle fibres are defective in Ca2+-dependent sarcolemma resealing. Membrane repair is therefore an active process in skeletal muscle fibres, and dysferlin has an essential role in this process. Our findings show that disruption of the muscle membrane repair machinery is responsible for dysferlin-deficient muscle degeneration, and highlight the importance of this basic cellular mechanism of membrane resealing in human disease.

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Dystrophin protects the sarcolemma from stresses developed during muscle contraction
Petrof, B. J., Shrager, J. B., Stedman, H. H., Kelly, A. M., & Sweeney, H. L. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.8.3710 · Cited by 1,526
Plasma Membrane Repair Is Mediated by Ca2+-Regulated Exocytosis of Lysosomes
Reddy, A. J., Caler, E. V., & Andrews, N. W. (2001) · Cell · doi:10.1016/s0092-8674(01)00421-4 · Cited by 1,060
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
Ervasti, J. M., Ohlendieck, K., Kahl, S. D., Gaver, M. G., & Campbell, K. P. (1990) · Nature · doi:10.1038/345315a0 · Cited by 1,033
Self-citation
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
Liu, J., Aoki, M., Illa, I., Wu, C., Fardeau, M., Angelini, C. I., Serrano, C., Urtizberea, J. A., Hentati, F., Hamida, M. B., et al. (1998) · Nature Genetics · doi:10.1038/1682 · Cited by 919
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
Bashir, R., Britton, S., Strachan, T., Keers, S. M., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., et al. (1998) · Nature Genetics · doi:10.1038/1689 · Cited by 685
The Laminin α Chains: Expression, Developmental Transitions, and Chromosomal Locations of α1-5, Identification of Heterotrimeric Laminins 8–11, and Cloning of a Novel α3 Isoform
Miner, J. H., Patton, B. L., Lentz, S. I., Gilbert, D. J., Snider, W. D., Jenkins, N. A., Copeland, N. G., & Sanes, J. R. (1997) · The Journal of Cell Biology · doi:10.1083/jcb.137.3.685 · Cited by 650
Molecular basis of muscular dystrophies
Cohn, R. D., & Campbell, K. P. (2000) · Muscle & Nerve · doi:10.1002/1097-4598(200010)23:10 · Cited by 538
Self-citation
Cell Membrane Resealing by a Vesicular Mechanism Similar to Neurotransmitter Release
Steinhardt, R. A., Bi, G., & Alderton, J. M. (1994) · Science · doi:10.1126/science.7904084 · Cited by 530
Animal models for muscular dystrophy show different patterns of sarcolemmal disruption
Straub, V., Rafael, J. A., Chamberlain, J. S., & Campbell, K. P. (1997) · The Journal of Cell Biology · doi:10.1083/jcb.139.2.375 · Cited by 488
Self-citation
Muscular dystrophies involving the dystrophin–glycoprotein complex: an overview of current mouse models
Durbeej, M., & Campbell, K. P. (2002) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(02)00309-x · Cited by 434
Self-citation

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Items 901–1,000 of 1,000

Molecular and Pathological Diagnosis of Muscular Dystrophies
Choi, Y. (2006) · Hanyang Medical Reviews
Stem Cell Therapy in Muscle Degeneration
Duelen, R., Costamagna, D., & Sampaolesi, M. (2017) · Springer eBooks · doi:10.1007/978-981-10-3292-9_3
Expressão gênica de proteínas associadas ao reparo de membrana e dinâmica do citoesqueleto de actina em mioblastos infectados pelo Trypanosoma cruzi
Tavares, P. C. B. (2016) · doi:10.14393/ufu.di.2016.52
Identification of a Dysferlin Gene Mutation in One Patient Showing Clinical Manifestation of Miyoshi Myopathy
지명구, Kim, N., Kim, D., & Choi, Y. (2009)
The occurrence of contraction-induced lesions in the sarcolemma of skeletal muscles: Insights from a micro-sized whole muscle model
Ng, R. (2008) · Deep Blue (University of Michigan)
Degeneração e regeneração muscular em modelos murinos com deficiência de disferlina
Ishiba, R. (2017) · doi:10.11606/d.41.2017.tde-26062017-103440
O uso da PCR em tempo real para o estudo da carga parasitária e dos níveis transcricionais durante a infecção experimental por Trypanosoma cruzi
Brígido, R. T. E. S. (2016) · doi:10.14393/ufu.te.2016.73
Análise da via autofágica no músculo distrófico
Fernandes, S. (2017) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2017.tde-17102017-161008
Caracterização da força e da função muscular nas disferlinopatias em amostra brasileira
Leite, I. P. A. (2018) · doi:10.11606/d.5.2018.tde-30012018-110816
Limb girdle muscular dystrophy in the Hutterite population of North America
Frosk, P. (2005) · Mspace (University of Manitoba)
Splice‐Switching Oligonucleotides
Gazzoli, I., & Aartsma-Rus, A. M. (2018) · Wiley eBooks · doi:10.1002/9781119070153.ch17
Muscle Cell Membrane Repair and Therapeutic Implications
Han, R. (2019) · Springer eBooks · doi:10.1007/978-3-030-03095-7_26
The Rho-GAP GRAF1 Regulates Skeletal Muscle Maturation and Repair
Lenhart, K. C. (2019) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/pa13-f021
Distribuição da fraqueza na Distrofia Muscular de Cinturas 2B com ênfase nos membros superiores
Bordini, E. C. (2019) · doi:10.11606/d.17.2019.tde-12072019-095149
Physiotherapy and Rehabilitation in Dysferlinopathy
(2018) · International Journal of Musculoskeletal Disorders · doi:10.29011/2690-0149.000013
Stem Cells in Dystrophic Animal Models: From Preclinical to Clinical Studies
Sitzia, C., Erratico, S., Farini, A., Torrente, Y., & Meregalli, M. (2014) · Stem cell biology and regenerative medicine · doi:10.1007/978-3-319-03572-7_1
Zebrafish as a Model to Understand the Impact of Inactivity and Neuromuscular Electrical Stimulation on Duchenne Muscular Dystrophy
Kilroy, E. A. (2020) · DigitalCommons (California Polytechnic State University)
Dissecting Complex Mechanisms of Calcium Influx in a Simple Wound System
Shannon, E. K. (2017)
[Sudden death of a 22-month-old infant due to hyperglycemic accident].
Cau, G., Yacoub, M., Faure, H., & Faure, J. (1968) · PubMed
Role of molecular and metabolic defects in impaired performance of dystrophic skeletal muscles
Bhullar, S. K., Nusier, M. K., Shah, A. K., & Dhalla, N. S. (2021) · Journal of Molecular and Clinical Medicine · doi:10.31083/j.jmcm0402005
Aplicación de técnicas de proteómica para el estudio de enfermedades neuromusculares
Gómez, T., & de la, C. (2012) · Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona)
Treatment and Management of Muscular Dystrophies
Rocha, C. T., & Escolar, D. M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-71317-7.00020-2
Neuromuscular System
Vogel, P., Janke, L. J., & Sheppard, H. W. (2021) · Wiley eBooks · doi:10.1002/9781119624608.ch16
Untersuchungen zum Einfluss der Dysferlindefizienz auf den speichergesteuerten, transsarkolemmalen Kalziumstrom und triadenassoziierte Proteine im murinen Skelettmuskel
Büssenschütt, R. (2021) · doi:10.53846/goediss-8961
Analysis of Brain Structure and Neural Organization in Dystrophin-Deficient Model Mice with Magnetic Resonance Imaging at 7 T
Rikitake, M., Hata, J., Iida, M., Seki, F., Ito, R., Komaki, Y., Yamada, C., Yoshimaru, D., Okano, H. J., & Shirakawa, T. (2022) · The Open Neuroimaging Journal · doi:10.2174/18744400-v15-e2202040
Faculty Opinions recommendation of MG53 nucleates assembly of cell membrane repair machinery.
Longacre, L. S. (2009) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.1157657.617860
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy
Weiler, T., Frosk, P., Wrogemann, K., & Greenberg, C. R. (2009) · Springer eBooks · doi:10.1007/978-3-540-29676-8_1054
Neuromuscular Pathology Case
Nguyen, L., & Lacomis, D. (2014) · Journal of Clinical Neuromuscular Disease · doi:10.1097/cnd.0000000000000043
Normal Muscle
Vedanarayanan, V., & Evans, O. B. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0435-8.00098-6
Comparative characteristics of Chinese silk breed chickens and broilers
Patieva, S. V., Patieva, A. M., Rak, D. V., & Зыкова, А. В. (2022) · Proceedings of the Voronezh State University of Engineering Technologies · doi:10.20914/2310-1202-2022-1-82-85
Conventional and Secretory Lysosomes
Shrestha, R., Kaplan, J., & Ward, D. M. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-821618-7.20019-9
Novel homozygous mutation in DYSF gene with limb-girdle muscular dystrophy type 2B through whole exome sequencing in IranPreprint
Rastegar, M., Shadmehri, A. A., Firoozabadi, M. D., Sorosh, Z., Dehghani, H., & Parsamanesh, N. (2023) · Research Square · doi:10.21203/rs.3.rs-3281826/v1
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
Hesami, H., Ghasemi, S., Houshmand, G., Nilipour, Y., Hesami, M., Biglari, A., Nafissi, S., Maleki, M., & Kalayinia, S. (2024) · BMC Musculoskeletal Disorders · doi:10.1186/s12891-024-07354-9
Additional file 4 of Long noncoding RNA and messenger RNA abnormalities in pediatric sepsis: a preliminary study
Bai, Z., Li, Y., Li, Y., Pan, J., Wang, J., & Fang, F. (2020) · Figshare · doi:10.6084/m9.figshare.11959989
Additional file 3 of Long noncoding RNA and messenger RNA abnormalities in pediatric sepsis: a preliminary study
Bai, Z., Li, Y., Li, Y., Pan, J., Wang, J., & Fang, F. (2020) · Figshare · doi:10.6084/m9.figshare.11959983
Additional file 6 of Long noncoding RNA and messenger RNA abnormalities in pediatric sepsis: a preliminary study
Bai, Z., Li, Y., Li, Y., Pan, J., Wang, J., & Fang, F. (2020) · Figshare · doi:10.6084/m9.figshare.11959995
Additional file 2 of Enhancer-promoter interaction maps provide insights into skeletal muscle-related traits in pig genome
Li, J., Xiang, Y., Zhang, L., Qi, X., Zheng, Z., Zhou, P., Tang, Z., Jin, Y., Zhao, Q., Fu, Y., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20047163
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d'Agata, L., Rassinoux, P., Gounou, C., Bouvet, F., Bouragba, D., Mamchaoui, K., & Bouter, A. (2024) · Journal of Cellular Biochemistry · doi:10.1002/jcb.30662 · Cited by 1
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Tomaskova, Z. S., & Macková, K. (2025) · Frontiers in Physiology · doi:10.3389/fphys.2025.1576133
Congenital, Limb-Girdle, and Other Muscular Dystrophies
McAnally, M., Mohassel, P., & Bönnemann, C. G. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00168-2
Hearing Impairment
Avan, P., Petit, C., & Deltenre, P. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00007-x
Targeting membrane fragility in LGMD R2 through pharmacological autophagy inductionPreprint
Grossi, N., Pellier, E., Miagoux, Q., Benabidès, M., Polentes, J., Leteur, C., Bruge, C., & Nissan, X. (2025) · Research Square · doi:10.21203/rs.3.rs-6671973/v1
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Soulages, A., Flabeau, O., Duval, F., Martin‐Négrier, M., Cossée, M., & Solé, G. (2025) · EMC - Neurologia · doi:10.1016/s1634-7072(25)50693-1
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Barthélémy, F., Courrier, S., & Bartoli, M. (2025) · Methods in molecular biology · doi:10.1007/978-1-0716-4730-1_30
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Quang, M. L., Bouter, A., & Martin‐Négrier, M. (2025) · Morphologie · doi:10.1016/j.morpho.2025.101052
Additional file 1 of Long noncoding RNA and messenger RNA abnormalities in pediatric sepsis: a preliminary study
Bai, Z., Li, Y., Li, Y., Pan, J., Wang, J., & Fang, F. (2020) · Figshare · doi:10.6084/m9.figshare.11959956
Additional file 5 of Long noncoding RNA and messenger RNA abnormalities in pediatric sepsis: a preliminary study
Bai, Z., Li, Y., Li, Y., Pan, J., Wang, J., & Fang, F. (2020) · Figshare · doi:10.6084/m9.figshare.11959992
Additional file 3 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562328
Additional file 9 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562349
Additional file 11 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562355
Additional file 5 of 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. R., Théret, M., & Bernatchez, P. N. (2024) · Figshare · doi:10.6084/m9.figshare.26759660
Additional file 2 of A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
Hesami, H., Ghasemi, S., Houshmand, G., Nilipour, Y., Hesami, M., Biglari, A., Nafissi, S., Maleki, M., & Kalayinia, S. (2024) · Figshare · doi:10.6084/m9.figshare.25495245
Additional file 17 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562373
Additional file 6 of 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. R., Théret, M., & Bernatchez, P. N. (2024) · Figshare · doi:10.6084/m9.figshare.26759663
Additional file 1 of Enhancer-promoter interaction maps provide insights into skeletal muscle-related traits in pig genome
Li, J., Xiang, Y., Zhang, L., Qi, X., Zheng, Z., Zhou, P., Tang, Z., Jin, Y., Zhao, Q., Fu, Y., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20047160
Additional file 10 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562352
Additional file 14 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562364
Additional file 8 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562346
Additional file 2 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562325
Additional file 15 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562367
Additional file 13 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562361
Additional file 3 of 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. R., Théret, M., & Bernatchez, P. N. (2024) · Figshare · doi:10.6084/m9.figshare.26759654
Additional file 18 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562376
Additional file 3 of A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
Hesami, H., Ghasemi, S., Houshmand, G., Nilipour, Y., Hesami, M., Biglari, A., Nafissi, S., Maleki, M., & Kalayinia, S. (2024) · Figshare · doi:10.6084/m9.figshare.26698541
Additional file 12 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562358
Additional file 2 of Long noncoding RNA and messenger RNA abnormalities in pediatric sepsis: a preliminary study
Bai, Z., Li, Y., Li, Y., Pan, J., Wang, J., & Fang, F. (2020) · Figshare · doi:10.6084/m9.figshare.11959968
Additional file 1 of 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. R., Théret, M., & Bernatchez, P. N. (2024) · Figshare · doi:10.6084/m9.figshare.26629098
Additional file 6 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562340
Additional file 1 of The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
Wang, N., Han, X., Hao, S., HAN, J., Zhou, X., Sun, S., Tang, J., Lu, Y., 吴红然, Ma, S., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21456037
Additional file 16 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562370
Additional file 5 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562337
Additional file 1 of A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
Hesami, H., Ghasemi, S., Houshmand, G., Nilipour, Y., Hesami, M., Biglari, A., Nafissi, S., Maleki, M., & Kalayinia, S. (2024) · Figshare · doi:10.6084/m9.figshare.25495162
Additional file 4 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562331
Additional file 4 of 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. R., Théret, M., & Bernatchez, P. N. (2024) · Figshare · doi:10.6084/m9.figshare.26759657
Additional file 7 of 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, I. M. A., Graham, M. E., Wark, J. R., Nijagal, B., Kwan, K. H., Kwiatkowski, T., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26562343
Additional file 2 of 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. R., Théret, M., & Bernatchez, P. N. (2024) · Figshare · doi:10.6084/m9.figshare.26629968
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Authors: Bansal, D., Miyake, K., Vogel, S. S., Groh, S., Chen, C.-C., Williamson, R., McNeil, P. L., & Campbell, K. P.
Affiliations: University of Iowa (US)
Augusta University (US)
National Institutes of Health (US)
Corresponding author: Campbell, Kevin P.
ORCID: Miyake, Katsuya
Vogel, Steven S.
Chen, Chien-Chang
Campbell, Kevin P.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2003-05
Volume: 423
Issue: 6936
Pages: 168-172
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature01573
OpenAlex: W2047136624
Cited by: 1,022
References: 27
Citations by year: 2026: 22 · 2025: 35 · 2024: 47 · 2023: 35 · 2022: 53 · 2021: 42 · 2020: 64 · 2019: 41 · 2018: 36 · 2017: 38 · 2016: 56 · 2015: 55 · 2014: 55 · 2013: 48 · 2012: 51
FWCI: 12.30
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Funders: Howard Hughes Medical Institute
National Aeronautics and Space Administration
Muscular Dystrophy Association
National Institutes of Health
Roy J. and Lucille A. Carver College of Medicine, University of Iowa
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
Health Sciences › Medicine › Surgery › Muscle and Compartmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
Keywords: dysferlin, limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, membrane repair, dystrophin-glycoprotein complex, muscle degeneration
MeSH terms: Dysferlin, Animals, Calcium, Cell Membrane, Membrane Fusion, Membrane Proteins, Muscle Proteins, Muscular Dystrophies, Regeneration, Stress, Mechanical, Dystrophin, Gene Deletion, Mice, Knockout, Muscle, Skeletal, Muscle Fibers, Skeletal, Mice

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Defective membrane repair in dysferlin-deficient muscular dystrophy

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