Results 61 to 70 of about 2,422 (183)

High‐throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin‐deficient limb girdle muscular dystrophy

British Journal of Pharmacology, Volume 182, Issue 13, Page 2930-2949, July 2025.
Abstract Background and Purpose Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles.
Celine Bruge, Nathalie Bourg, Emilie Pellier, Johana Tournois, Jerome Polentes, Manon Benabides, Noella Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, Xavier Nissan   +10 more
wiley   +1 more source

miRegulome: a knowledge-base of miRNA regulomics and analysis [PDF]

, 2015
miRNAs regulate post transcriptional gene expression by targeting multiple mRNAs and hence can modulate multiple signalling pathways, biological processes, and patho-physiologies.
Azevedo, Vasco, Barh, Debmalya, Barve, Neha, Bhattacharya, Antaripa, Blum, Kenneth, Ghosh, Preetam, Jain, Neha, Juneja, Lucky, Kamapantula, Bhanu, Kumar, Anil, Miyoshi, Anderson, Nalluri, Joseph, Silva, Artur, Tiwari, Sandeep   +13 more
core   +3 more sources

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. [PDF]

, 2018
Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal ...
Coppola, Giovanni, Dokuru, Deepika, Farmer, Jennifer, Gao, Fuying, Isaacs, Charles, Lynch, David R, Nachun, Daniel, Perlman, Susan, Sears, Renee, Strawser, Cassandra, Van Berlo, Victoria, Yang, Zhongan   +11 more
core   +1 more source

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy.

PLoS ONE, 2012
Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea that the pathophysiology of dysferlin deficiencies is ...
William Lostal, Marc Bartoli, Carinne Roudaut, Nathalie Bourg, Martin Krahn, Marina Pryadkina, Perrine Borel, Laurence Suel, Joseph A Roche, Daniel Stockholm, Robert J Bloch, Nicolas Levy, Rumaisa Bashir, Isabelle Richard   +13 more
doaj   +1 more source

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

Archives of Neurology, 2004
Miyoshi distal myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) were found to map to the same mutant gene encoding for dysferlin on chromosome 2p13. Most reported cases were large inbred kindreds whose members demonstrated both MM and LGMD2B phenotypes.To investigate the clinical, neurophysiological, histopathological, and genetic ...
Long-Sun, Ro, Guey-Jen, Lee-Chen, Tzu-Ching, Lin, Yih-Ru, Wu, Chiung-Mei, Chen, Cheng-Yueh, Lin, Sien-Tsong, Chen   +6 more
openaire   +2 more sources

Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression

CNS Neuroscience &Therapeutics, Volume 30, Issue 10, October 2024.
The current study is the first to utilize tandem mass tag (TMT)‐labeled liquid chromatography‐mass spectrometry (LC–MS/MS)‐based proteomics in dysferlinopathy research. The study aimed to explore the proteomic landscape and disease‐related alterations in the muscle tissue proteome of 15 patients with dysferlinopathy with varying degrees of dystrophic ...
Di Wang, Xin‐yi Liu, Qi‐Fang He, Fu‐ze Zheng, Long Chen, Ying Zheng, Ming‐hui Zeng, Yu‐hua Lin, Xin Lin, Hai‐zhu Chen, Min‐ting Lin, Ning Wang, Zhi‐qiang Wang, Feng Lin   +13 more
wiley   +1 more source

Noncoding RNAs and Duchenne muscular dystrophy [PDF]

, 2016
Noncoding RNAs (ncRNAs) such as miRNAs and long noncoding RNAs modulate gene transcription in response to environmental stressors and other stimuli. A role for ncRNAs in muscle pathologies has been demonstrated and further evidence suggests that ncRNAs ...
Austin PJ, Butchart LC, Francesco Muntoni, Mark M Perry, Perry MM, Valeria De A   +5 more
core   +1 more source

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

Advanced Science, Volume 11, Issue 31, August 21, 2024.
In this study, a hiPSC‐derived 3D tissue‐engineered model of LGMD2B skeletal muscle is developed and applied to show that calcium handling abnormalities drive multiple contractile and metabolic deficits in dysferlinopathy. This human in vitro model replicates transcriptional signatures and drug responses of diseased muscles from patients and small ...
Alastair Khodabukus, Neel K. Prabhu, Taylor Roberts, Meghan Buldo, Amber Detwiler, Zachary D. Fralish, Megan E. Kondash, George A. Truskey, Timothy R. Koves, Nenad Bursac   +9 more
wiley   +1 more source

Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy. [PDF]

, 2015
The use of adult myogenic stem cells as a cell therapy for skeletal muscle regeneration has been attempted for decades, with only moderate success. Myogenic progenitors (MP) made from induced pluripotent stem cells (iPSCs) are promising candidates for ...
Alvarez Palomo, Ana Belen, Edel, Michael John, Requena Osete, Jordi, Roca, Isart   +3 more
core   +3 more sources

Patients with a Non‐dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect [PDF]

Traffic, 2006
Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene. These mutations result in poor ability to repair cell membrane damage, which is suggested to be the cause for this disease.
Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LVB, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R   +13 more
openaire   +3 more sources