Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
This study aims to analyze the genetic and clinical charact... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 7, 2024 Category: Internal Medicine Authors: Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong, Yan Chen, Lijun Luo, Xueli Chang, Junhong Guo, Yiqi Wang, Hui Xiong, Rongrong Liu, Changxia Liu, Jibao Wu, Jie Lin, Jianying Xi & hellip; Tags: Research Source Type: research
Generalizable anchor aptamer strategy for loading nucleic acid therapeutics on exosomes
EMBO Mol Med. 2024 Mar 6. doi: 10.1038/s44321-024-00049-7. Online ahead of print.ABSTRACTClinical deployment of oligonucleotides requires delivery technologies that improve stability, target tissue accumulation and cellular internalization. Exosomes show potential as ideal delivery vehicles. However, an affordable generalizable system for efficient loading of oligonucleotides on exosomes remain lacking. Here, we identified an Exosomal Anchor DNA Aptamer (EAA) via SELEX against exosomes immobilized with our proprietary CP05 peptides. EAA shows high binding affinity to different exosomes and enables efficient loading of nucl...
Source: Molecular Medicine - March 6, 2024 Category: Molecular Biology Authors: Gang Han Yao Zhang Li Zhong Biaobiao Wang Shuai Qiu Jun Song Caorui Lin Fangdi Zou Jingqiao Wu Huanan Yu Chao Liang Ke Wen Yiqi Seow HaiFang Yin Source Type: research
Generalizable anchor aptamer strategy for loading nucleic acid therapeutics on exosomes
EMBO Mol Med. 2024 Mar 6. doi: 10.1038/s44321-024-00049-7. Online ahead of print.ABSTRACTClinical deployment of oligonucleotides requires delivery technologies that improve stability, target tissue accumulation and cellular internalization. Exosomes show potential as ideal delivery vehicles. However, an affordable generalizable system for efficient loading of oligonucleotides on exosomes remain lacking. Here, we identified an Exosomal Anchor DNA Aptamer (EAA) via SELEX against exosomes immobilized with our proprietary CP05 peptides. EAA shows high binding affinity to different exosomes and enables efficient loading of nucl...
Source: Molecular Medicine - March 6, 2024 Category: Molecular Biology Authors: Gang Han Yao Zhang Li Zhong Biaobiao Wang Shuai Qiu Jun Song Caorui Lin Fangdi Zou Jingqiao Wu Huanan Yu Chao Liang Ke Wen Yiqi Seow HaiFang Yin Source Type: research
Economic Evaluations of Treatments for Duchenne Muscular Dystrophy: The Caregiver QALY Trap
(Source: PharmacoEconomics)
Source: PharmacoEconomics - March 5, 2024 Category: Health Management Source Type: research
Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy
EMBO Mol Med. 2024 Mar 4. doi: 10.1038/s44321-024-00031-3. Online ahead of print.ABSTRACTCell therapy for muscular dystrophy has met with limited success, mainly due to the poor engraftment of donor cells, especially in fibrotic muscle at an advanced stage of the disease. We developed a cell-mediated exon skipping that exploits the multinucleated nature of myofibers to achieve cross-correction of resident, dystrophic nuclei by the U7 small nuclear RNA engineered to skip exon 51 of the dystrophin gene. We observed that co-culture of genetically corrected human DMD myogenic cells (but not of WT cells) with their dystrophic c...
Source: Molecular Medicine - March 4, 2024 Category: Molecular Biology Authors: Francesco Galli Laricia Bragg Maira Rossi Daisy Proietti Laura Perani Marco Bagicaluppi Rossana Tonlorenzi Tendai Sibanda Miriam Caffarini Avraneel Talapatra Sabrina Santoleri Mirella Meregalli Beatriz Bano-Otalora Anne Bigot Irene Bozzoni Chiara Bonini V Source Type: research
A case of Duchenne muscular dystrophy recovered from prolonged ischemic kidney injury which emerged with a normal creatinine level
AbstractDuchenne muscular dystrophy (DMD) is an inherited disease characterized by progressive degeneration of the skeletal muscles. Renal dysfunction in patients with DMD has recently become more apparent as life expectancy has increased owing to advances in respiratory devices and heart failure therapies. A 23-year-old man with DMD who required nasal tube feeding was referred to our hospital with a 4-month history of renal dysfunction and anemia. The patient ’s serum creatinine (sCr) level was within the normal range (0.84 mg/dL), but his serum cystatin C level and estimated glomerular filtration rate calculated by cy...
Source: CEN Case Reports - March 4, 2024 Category: Urology & Nephrology Source Type: research
Trunk-oriented Exercises Versus Whole-body Vibration on Abdominal Thickness and Balance in Children with Duchene Muscular Dystrophy
CONCLUSIONS: Trunk-oriented exercises can improve abdominal thickness and balance more effectively than whole-body vibration in children with DMD.CLINICALTRIALS: gov ID: NCT05688072.PMID:38427368 (Source: Journal of Musculoskeletal Neuronal Interactions)
Source: Journal of Musculoskeletal Neuronal Interactions - March 1, 2024 Category: Neurology Authors: Mostafa S Ali Marwa S Saleh Source Type: research
A review on mechanistic insights into structure and function of dystrophin protein in pathophysiology and therapeutic targeting of Duchenne muscular dystrophy
We present an in-depth analysis of promising therapeutic approaches targeting dystrophin and their implications for the therapeutic management of DMD. Several therapies aiming to restore dystrophin protein or address secondary pathology have obtained regulatory approval, and numerous others are ongoing clinical development. Notably, recent advancements in genetic approaches have demonstrated the potential to restore partially functional dystrophin forms. The review also includes a comprehensive overview of the status of clinical trials for major therapeutic genetic approaches for DMD. We have further summarized the ongoing...
Source: International Journal of Biological Macromolecules - March 1, 2024 Category: Biochemistry Authors: Abdelbaset Mohamed Elasbali Waleed Abu Al-Soud Saleha Anwar Hassan H Alhassan Mohd Adnan Md Imtaiyaz Hassan Source Type: research
Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing
In this study, we used adenine base editing to generate a human embryonic stem cell line with splice-site mutations to mimic exon deletion variants in clinical Duchenne muscular dystrophy patients. This cell line has differentiation potential and a normal karyotypic.PMID:38428348 | DOI:10.1016/j.scr.2024.103343 (Source: Cell Research)
Source: Cell Research - March 1, 2024 Category: Cytology Authors: Hui Jin Hong Fu Jingjing Wang Zhongming Wang Jing Liu Fengjie Han Haijun Zheng Youxu Jiang Source Type: research
Trunk-oriented Exercises Versus Whole-body Vibration on Abdominal Thickness and Balance in Children with Duchene Muscular Dystrophy
CONCLUSIONS: Trunk-oriented exercises can improve abdominal thickness and balance more effectively than whole-body vibration in children with DMD.CLINICALTRIALS: gov ID: NCT05688072.PMID:38427368 (Source: Journal of Musculoskeletal Neuronal Interactions)
Source: Journal of Musculoskeletal Neuronal Interactions - March 1, 2024 Category: Neurology Authors: Mostafa S Ali Marwa S Saleh Source Type: research
Trunk-oriented Exercises Versus Whole-body Vibration on Abdominal Thickness and Balance in Children with Duchene Muscular Dystrophy
CONCLUSIONS: Trunk-oriented exercises can improve abdominal thickness and balance more effectively than whole-body vibration in children with DMD.CLINICALTRIALS: gov ID: NCT05688072.PMID:38427368 | PMC:PMC10910192 (Source: Journal of Musculoskeletal Neuronal Interactions)
Source: Journal of Musculoskeletal Neuronal Interactions - March 1, 2024 Category: Neurology Authors: Mostafa S Ali Marwa S Saleh Source Type: research
