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Статті в журналах з теми "LGMDR8"
Alonso-Pérez, Jorge, Lidia González-Quereda, Luca Bello, Michela Guglieri, Volker Straub, Pia Gallano, Claudio Semplicini, et al. "New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy." Brain 143, no. 9 (September 1, 2020): 2696–708. http://dx.doi.org/10.1093/brain/awaa228.
Повний текст джерелаLasa-Elgarresta, Jaione, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain, and Ainara Vallejo-Illarramendi. "Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations." International Journal of Molecular Sciences 20, no. 18 (September 13, 2019): 4548. http://dx.doi.org/10.3390/ijms20184548.
Повний текст джерелаTasca, Giorgio, Mauro Monforte, Jordi Díaz-Manera, Giacomo Brisca, Claudio Semplicini, Adele D’Amico, Fabiana Fattori, et al. "MRI in sarcoglycanopathies: a large international cohort study." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 1 (September 9, 2017): 72–77. http://dx.doi.org/10.1136/jnnp-2017-316736.
Повний текст джерелаKhadilkar, Satish V., Bhagyadhan A. Patel, and Jamshed A. Lalkaka. "Making sense of the clinical spectrum of limb girdle muscular dystrophies." Practical Neurology 18, no. 3 (February 22, 2018): 201–10. http://dx.doi.org/10.1136/practneurol-2017-001799.
Повний текст джерелаHadj Salem, Ikhlass, Fatma Kamoun, Nacim Louhichi, Souad Rouis, Mariam Mziou, Nourhene Fendri-Kriaa, Fatma Makni-Ayadi, Chahnez Triki, and Faiza Fakhfakh. "Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies." Bioscience Reports 31, no. 2 (November 23, 2010): 125–35. http://dx.doi.org/10.1042/bsr20100026.
Повний текст джерелаCozma, Liviu, Maria Barsevschi, Cristina Mitu, Alexandra Bastian, and Bogdan Ovidiu Popescu. "SURPRISING GENOTYPE EXPRESSED AS A COMMON LIMB-GIRDLE MUSCULAR DYSTROPHY." Romanian Journal of Neurology 16, no. 2 (June 30, 2017): 71–73. http://dx.doi.org/10.37897/rjn.2017.2.6.
Повний текст джерелаMarchuk, Margarita, Tetiana Dovbonos, Halyna Makukh, Orest Semeryak, and Yevheniya Sharhorodska. "Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis." Brain Sciences 11, no. 8 (July 31, 2021): 1020. http://dx.doi.org/10.3390/brainsci11081020.
Повний текст джерелаPathak, Pankaj, Mehar Chand Sharma, Pankaj Jha, Chitra Sarkar, Mohammed Faruq, Prerana Jha, Vaishali Suri, et al. "Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India." Journal of Neuromuscular Diseases 8, no. 1 (January 1, 2021): 125–36. http://dx.doi.org/10.3233/jnd-200547.
Повний текст джерелаWillis, Erin, Steven A. Moore, Mary O. Cox, Vikki Stefans, Akilandeswari Aravindhan, Murat Gokden, and Aravindhan Veerapandiyan. "Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene." Child Neurology Open 9 (January 2022): 2329048X2210975. http://dx.doi.org/10.1177/2329048x221097518.
Повний текст джерелаAngelini, C., L. Nardetto, C. Borsato, R. Padoan, M. Fanin, A. C. Nascimbeni, and E. Tasca. "The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)." Neurological Research 32, no. 1 (February 2010): 41–46. http://dx.doi.org/10.1179/174313209x380847.
Повний текст джерелаДисертації з теми "LGMDR8"
Kirk, Calum Norman Robert. "Pathophysiology of anoctaminopathy (LGMD2L)." Thesis, University of Newcastle upon Tyne, 2017. http://hdl.handle.net/10443/3861.
Повний текст джерелаBritton, Stephen Andrew. "Characterisation of expressed sequences from LGMD2B region of chromosome 2p13." Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311106.
Повний текст джерелаRichard, Isabelle. "Etiologie moleculaire de la dystrophie musculaire des ceintures type 2a (lgmd2a)." Paris 7, 1996. http://www.theses.fr/1996PA077273.
Повний текст джерелаBawa, Simranjot. "Exploring the molecular mechanisms of Drosophila dTRIM32 implicated in pathogenesis of Limb-Girdle Muscular Dystrophy 2H." Thesis, Kansas State University, 2017. http://hdl.handle.net/2097/38243.
Повний текст джерелаBiochemistry and Molecular Biophysics Interdepartmental Program
Erika Rae Geisbrecht
The E3 ubiquitin ligase TRIM32 is a member of tripartite motif (TRIM) family of proteins involved in various processes including differentiation, cell growth, muscle regeneration and cancer. TRIM32 is conserved between vertebrates (humans, mouse) and invertebrates (Drosophila). The N-terminus of this protein is characterized by a RING domain, B-box domain, and Coiled-Coil region, while the C-terminus contains six NHL repeats. In humans, mutations that cluster in the NHL domains of TRIM32 result in the muscle disorders Limb-Girdle Muscular Dystrophy type 2H (LGMD2H) and Sarcotubular Myopathy (STM). Mutations in the B-box region cause Bardet-Biedl Syndrome (BBS), a clinically separate disorder that affects multiple parts of the body. A comprehensive genetic analysis in vertebrate models is complicated by the ubiquitous expression of TRIM32 and neurogenic defects in TRIM32-/- mutant mice that are independent of the muscle pathology associated with LGMD2H. The model organism Drosophila melanogaster possesses a TRIM32 [dTRIM32/Thin (Tn)/Abba] homolog highly expressed in muscle tissue. We previously showed that dTRIM32 is localized to Z-disk of the sarcomere and is required for myofibril stability. Muscles form correctly in Drosophila tn mutants, but exhibit a degenerative muscle phenotype once contraction ensues. Mutant or RNAi knockdown larvae are also defective in locomotion, which mimics clinical features associated with loss of TRIM32 in LGMD2H patients. It is predicted that mutations in the NHL domain either affect protein structure or are involved in protein-protein interactions. However, the molecular mechanism by which these mutations affect the interaction properties of dTRIM32 is not understood. Biochemical pulldown assays using the bait fusion protein GST-dTRIM32-NHL identified numerous dTRIM32 binding proteins in larval muscle tissue. Many key glycolytic enzymes were present in the dTRIM32 pulldowns and not in control experiments. Glycolytic genes are expressed in the developing Drosophila musculature and are required for myoblast fusion. Strikingly, many glycolytic proteins are also found at the Z-disk, consistent with dTRIM32 localization. Our biochemical and genetic studies provide evidence that there is direct interaction between dTRIM32 and glycolytic proteins (Aldolase and PGLYM). dTRIM32 also regulates glycolytic enzyme levels and protein localization at their sites of action. These data together suggest a role for dTRIM32 in coordinating glycolytic enzyme function, possibly for localized ATP production or to maintain muscle mass via glycolytic intermediates.
Rathgeber, Matthew F. "Galectin-1 Improves Sarcolemma Repair and Decreases the Inflammatory Response in LGMD2B Models." BYU ScholarsArchive, 2020. https://scholarsarchive.byu.edu/etd/8723.
Повний текст джерелаTaveau, Mathieu. "Caractérisation de la fonction et du mécanisme d'activation de la calpaïne 3, une protéase musculaire déficiente dans la dystrophie des ceintures de type 2A." Paris 6, 2003. http://www.theses.fr/2003PA066315.
Повний текст джерелаFOUGEROUSSE, FRANCOISE. "Cartographie d'une region genetique impliquee dans la dystrophie musculaire des ceintures (lgmd2)." Paris 7, 1994. http://www.theses.fr/1994PA077140.
Повний текст джерелаMonjaret, François. "Evaluation de trois approches de thérapie génique pour le traitement des dysferlinopathies : miniprotéine, compensation et trans-épissage." Thesis, Evry-Val d'Essonne, 2012. http://www.theses.fr/2012EVRY0035/document.
Повний текст джерелаDysferlinopathies are muscular diseases due to mutations in DYSF gene, inducing dysferlin protein deficiency. In this thesis, three therapeutic approaches have been investigated for these pathologies, on cell or mice models. A short transcriptional dysferlin variant has been injected into Bla/J dysferlin deficient mouse model, using AAV8r vector. Muscle fibers of treated animals displayed an increased resistance to mechanical stress without therapeutic benefit. These experiments also pointed out the toxicity of this strategy. A protein compensation approach has been tested using anoctamin 5, known to be involved in pathologies and activities similar to dysferlin’s ones. AAVr mediated Anoctamin 5 overexpression in Bla/J model does not rescue their muscle phenotype. Overexpression of ANO5 does not seem to be a valuable therapeutic strategy for dysferlin deficiency. Dysferlin RNA surgery was evaluated as a possible genetic therapy using Spliceosome-Mediated RNA Trans-splicing (SMaRT). On a Minigene target, SMaRT is able to induce RNA reprogramming by trans-splicing, and produce the corresponding protein. But efficiency is by far decreased in endogenous context and not good enough to restore functional dysferlin in human myoblasts. Moreover, we described proteins resulting from RNA-trans-splicing molecule (RTM) self-expression, limiting the value of SMaRT as therapeutic strategy, especially for dysferlinopathies
Broux, Odile. "Localisation, identification et etude d'un gene responsable d'une forme autosomique recessive de dystrophie musculaire de ceintures (lgmd2e)." Littoral, 1997. http://www.theses.fr/1997DUNK0008.
Повний текст джерелаAllamand, Valérie. "Cartographie genetique fine de la region impliquee dans une forme autosomique recessive de dystrophie musculaire des ceintures (lgmd2a)." Paris 7, 1995. http://www.theses.fr/1995PA077002.
Повний текст джерелаЧастини книг з теми "LGMDR8"
Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 1A." In Encyclopedia of Molecular Mechanisms of Disease, 1167. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6089.
Повний текст джерелаLeung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 1B." In Encyclopedia of Molecular Mechanisms of Disease, 1167. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6091.
Повний текст джерелаLeung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 1C." In Encyclopedia of Molecular Mechanisms of Disease, 1167. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6092.
Повний текст джерелаLeung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 2A." In Encyclopedia of Molecular Mechanisms of Disease, 1167. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6094.
Повний текст джерелаLeung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 2B." In Encyclopedia of Molecular Mechanisms of Disease, 1167–68. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6095.
Повний текст джерелаLeung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 2H." In Encyclopedia of Molecular Mechanisms of Disease, 1168. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6097.
Повний текст джерелаLeung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 2I." In Encyclopedia of Molecular Mechanisms of Disease, 1168. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6100.
Повний текст джерелаDella Marina, A., U. Schara, and B. Schrank. "Kongenitale Muskeldystrophie Typ 1 C (MDC 1C) und Gliedergürtel-Muskeldystrophie 21 (LGMD2I)." In Klinik und Transition neuromuskulärer Erkrankungen, 171–78. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-662-44239-5_25.
Повний текст джерелаZhang, Yicheng, Jiannan Zhao, Mu Hua, Hao Luan, Mei Liu, Fang Lei, Heriberto Cuayahuitl, and Shigang Yue. "O-LGMD: An Opponent Colour LGMD-Based Model for Collision Detection with Thermal Images at Night." In Lecture Notes in Computer Science, 249–60. Cham: Springer Nature Switzerland, 2022. http://dx.doi.org/10.1007/978-3-031-15934-3_21.
Повний текст джерелаMorie, Maho Wielfrid, Iza Marfisi-Schottman, and Bi Tra Goore. "LGMD: Optimal Lightweight Metadata Model for Indexing Learning Games." In Communications in Computer and Information Science, 3–16. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-45183-7_1.
Повний текст джерелаТези доповідей конференцій з теми "LGMDR8"
Farias, Igor Braga, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, Roberta Ismael Lacerda Machado, Carolina Maria Marin, Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "Clinical and genetic profile of Brazilian patients with dysferlinopathies – A retrospective study." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.054.
Повний текст джерелаFu, Qinbing, and Shigang Yue. "Modelling LGMD2 visual neuron system." In 2015 IEEE 25th International Workshop on Machine Learning for Signal Processing (MLSP). IEEE, 2015. http://dx.doi.org/10.1109/mlsp.2015.7324313.
Повний текст джерела"LGMD based Neural Network for Automatic Collision Detection." In 9th International Conference on Informatics in Control, Automation and Robotics. SciTePress - Science and and Technology Publications, 2012. http://dx.doi.org/10.5220/0004044201320140.
Повний текст джерелаFu, Qinbing, Cheng Hu, Tian Liu, and Shigang Yue. "Collision selective LGMDs neuron models research benefits from a vision-based autonomous micro robot." In 2017 IEEE/RSJ International Conference on Intelligent Robots and Systems (IROS). IEEE, 2017. http://dx.doi.org/10.1109/iros.2017.8206254.
Повний текст джерелаShigang Yue and F. Claire Rind. "Near range path navigation using LGMD visual neural networks." In 2009 2nd IEEE International Conference on Computer Science and Information Technology. IEEE, 2009. http://dx.doi.org/10.1109/iccsit.2009.5234439.
Повний текст джерелаGuopeng Zhang, Chun Zhang, and Shigang Yue. "LGMD and DSNs neural networks integration for collision predication." In 2016 International Joint Conference on Neural Networks (IJCNN). IEEE, 2016. http://dx.doi.org/10.1109/ijcnn.2016.7727330.
Повний текст джерелаRodino-Klapac, L. R., E. R. Pozsgai, S. Lewis, D. A. Griffin, A. S. Meadows, K. J. Lehman, K. Church та ін. "Safety, β-Sarcoglycan Expression, and Functional Outcomes from Systemic Gene Transfer of rAAVrh74.MHCK7.hSGCB in LGMD2E/R4". У Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739648.
Повний текст джерелаHu, Bin, Zhuhong Zhang, and Lun Li. "LGMD-BASED VISUAL NEURAL NETWORK FOR DETECTING CROWD ESCAPE BEHAVIOR." In 2018 5th IEEE International Conference on Cloud Computing and Intelligence Systems (CCIS). IEEE, 2018. http://dx.doi.org/10.1109/ccis.2018.8691354.
Повний текст джерелаSilva, A., and C. Santos. "Computational model of the LGMD neuron for automatic collision detection." In 2013 IEEE 3rd Portuguese Meeting in Bioengineering (ENBENG). IEEE, 2013. http://dx.doi.org/10.1109/enbeng.2013.6518420.
Повний текст джерелаSilva, Ana, and Cristina P. Santos. "Modeling disinhibition within a layered structure of the LGMD neuron." In 2013 International Joint Conference on Neural Networks (IJCNN 2013 - Dallas). IEEE, 2013. http://dx.doi.org/10.1109/ijcnn.2013.6707010.
Повний текст джерела