Results 61 to 70 of about 206,878 (242)

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Arquivos de Neuro-Psiquiatria, 2014
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier Neto, Reinaldo Issao Takata, Antonio Pedro Vargas   +10 more
doaj   +1 more source

Early Retinal UCHL1 Dysregulation Coupled With Synaptic Loss Reflects Alzheimer's Disease Severity

Advanced Science, EarlyView.
This study identifies synapse‐enriched deubiquitinase UCHL1 as an early Aβ‐responsive regulator of retinal synaptopathy in Alzheimer's disease. Retinal UCHL1 loss accompanies excitatory synapse degeneration, p75NTR activation, and neuroinflammation, and predicts Braak stage and cognitive decline. Aβ42 fibrils trigger synaptic and UCHL1 depletion before
Altan Rentsendorj, Jean‐Philippe Vit, Alexandre Hutton, Yosef Koronyo, Saba Shahin, Edward Robinson, Ernesto Barron, Anthony Rodriguez, Ousman Jallow, Julia Sheyn, Bhakta Prasad Gaire, Lalita Subedi, Miyah R. Davis, Barathan Gnanabharathi, Alexander V. Ljubimov, Stuart L. Graham, Vivek K. Gupta, Mehdi Mirzaei, Debra Hawes, Katlin Silm, Keith L. Black, Lon S. Schneider, Alfredo A. Sadun, Jesse G. Meyer, Dieu‐Trang Fuchs, Maya Koronyo‐Hamaoui   +25 more
wiley   +1 more source

HMGCR‐Driven Cholesterol Metabolism Promotes Osteoarthritis Progression by Accelerating Synovial Fibroblast Senescence

Advanced Science, EarlyView.
In the pathological context of osteoarthritis (OA), the phosphorylation of AKT1 at Ser473 enhances its binding to Lys140 of Insig1, which facilitates the formation of AKT1–Insig1 complex. Subsequently, the activation of AKT1 promotes the phosphorylation of Insig1 at Ser189, potentially enhancing the dissociation of Insig1 from sterol regulatory element‑
Xiaoqi Zhang, Siru Zhou, Xi Liu, Wei Xiang, Xiuqin Peng, Yu Tian, Song Li, Hailin Wang, Bo Liao, Shunzheng Fang, Runze Jin, Jinhui Wu, Chuanqing Bai, Wei Zhang, Bo Huang, Bingfei Li, Lifeng Chen, Lin Chen, Bin Zhang, Zhenhong Ni   +19 more
wiley   +1 more source

Maternal Exercise Rescues Embryonic Osteogenesis Impaired due to POLG Mutation Through a Potential Apelin‐ATF4 Axis

Advanced Science, EarlyView.
Maternal exercise (ME) increases apelin abundance across maternal and fetal tissues and is associated with improved fetal osteogenesis under POLG mutation‐induced mitochondrial dysfunction. Apelin‐APJ signaling is linked to enhanced mitochondrial function, Akt phosphorylation, and ATF4‐RUNX2 association, supporting coordinated fetal bone remodeling ...
Song Ah Chae, Ryan C. Riddle, Zhihua Jiang, Chaeyoung Shin, Min Du, Jun Seok Son   +5 more
wiley   +1 more source

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

RNA Biology, 2022
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M. Spyrou, Leonidas A. Phylactou   +17 more
doaj   +1 more source

Glucocorticoid Receptor Signaling in Myeloid Cells Orchestrates Inflammation Resolution and Muscle Repair

Advanced Science, EarlyView.
Glucocorticoids (GC) are widely used to reduce inflammation. We show that the glucocorticoid receptor in myeloid cells regulates macrophage cell cycle and genome integrity during muscle regeneration. We demonstrate that dexamethasone administration during the early inflammatory phase delays muscle repair by increasing macrophage proliferation ...
Sirine Souali‐Crespo, Joe G. Rizk, Emilia Calvano, Rajesh Sahu, Emina Colovic, Imane Chabba, Valentine Gilbart, Erwan Grandgirard, Bastien Morlet, Qingshuang Cai, Daniel Metzger, Delphine Duteil   +11 more
wiley   +1 more source

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

Recent advances in paediatric muscular dystrophies

The inherited muscle diseases of childhood remain a significant cause of disability. Enormous progress in determining the underlying genetic causes of these disorders has led to much greater precision in diagnosis and better guidance about prognosis for ...
Bushby K
core   +5 more sources

Diagnostic approach to the congenital muscular dystrophies

, 2014
International audienceCongenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity
Bönnemann, Carsten, Deconinck, Nicolas, Béroud, Christophe, Moore, Steven A, Mathews, Katherine D, North, Kathryn N., Muntoni, Francesco, Wang, Ching H, Bertini, Enrico, Wang, Ching H., For Congenital Muscular Dystrophies, Members of International Standard of Care Committee, Mathews, Katherine D., Quijano-Roy, Susana, Rutkowski, Anne, North, Kathryn N, Moore, Steven A., Ferreiro, Ana, Bellini, Jonathan, Sewry, Caroline   +18 more
core   +1 more source