Results 71 to 80 of about 127,703 (256)

PolyG Fibrils Coalesce Into Nuclear Ribbons That Engage Proteostasis Machinery in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
In NIID, expanded NOTCH2NLC repeats give rise to nuclear polyG inclusions. Tracer‐guided in situ cryo‐electron tomography enables cross‐scale structural analysis from mouse brain to native neuronal nuclei, revealing dense‐core/peripheral‐halo inclusions built from compact polyG ribbons.
Hui Dong, Yongcheng Pan, Zhiyao Tang, Yuxuan Yao, Guicong Zhang, Junpu Wang, Haonan Xiao, Yun Tian, Beisha Tang, Dan Li, Qiang Guo, Ruijun Tian, Qiong Liu, Cong Liu   +13 more
wiley   +1 more source

A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
This study reveals that NOTCH2NLC transcript variant 2 generates PolyGN2C‐iso2, an aggregating protein present within intranuclear inclusions of NIID patient tissues. A novel mouse model expressing PolyGN2C‐iso2 recapitulates white matter abnormalities and cognitive deficits, mechanistically linked to mitochondrial dysfunction. These findings support a
Kang Zhang, Wenhao Ma, Yi Zhou, Zhijie Wu, Pan Gao, Hongze Niu, Hongfei Tai, Tianyi Zhao, Zheyue Dong, Li Li, Yan Zhang, An Wang, Si Shen, Yueyang Li, Sifei Yu, Yan Peng, Wang Sheng, Xiaoyan Dong, Hua Pan, Kaibin Shi, Magdalena J. Koziol, Xiaobing Wu, Zaiqiang Zhang   +22 more
wiley   +1 more source

Statin-Associated Autoimmune Myopathy: Current Perspectives

, 2020
Eleni Tiniakou Johns Hopkins University School of Medicine, Department of Medicine, Division of Rheumatology, Baltimore, MD, USACorrespondence: Eleni TiniakouJohns Hopkins University School of Medicine, 5200 Eastern Avenue, Mason Lord, Center Tower ...
Tiniakou E
core  

Loss of LCN2 Function Ameliorates Glucocorticoid‐Induced Muscle Atrophy via Remodeling the Extracellular Matrix

Advanced Science, EarlyView.
Glucocorticoids transcriptionally activate LCN2 expression via GR nuclear translocation. Secreted LCN2 binds MMP9 to degrade skeletal muscle ECM collagen, blocks integrin‐mediated mechanotransduction, bidirectionally disrupts muscle protein homeostasis, and reveals a novel target for steroid‐induced muscle atrophy.
Hongwei Shi, Xiaojing Hao, Yi Yan, Fengyang Li, Yaru Zhang, Zixin Li, Wenjuan Xie, Jiayin Lu, Xiaomao Luo, Yanjun Dong, Haidong Wang, Juan Wang   +11 more
wiley   +1 more source

Single‐Nucleus Atlas of Spinal Sarcopenia Patients Reveals Disruption of Quiescent and Regenerative Satellite Cell Niches in Fatty‐Infiltrated Muscle

Advanced Science, EarlyView.
Mechanisms of Fatty Infiltration and Muscle Degeneration. Clinical metadata identified intramuscular fat accumulation as an independent driver of muscle mass decline. Single‐nucleus RNA sequencing of spinal sarcopenia muscle revealed adipogenic reprogramming of fibro‐adipogenic progenitors, satellite‐cell niche disruption, and elevated levels of the ...
Wenkai Wu, Renxian Wang, Dingding Wang, Quanzhong Ren, Ling Wang, Fangfang Duan, Guihe Yang, Ruixuan Yu, Yi Wang, Yingyu Zhang, Zetong Zang, Chuqi Li, Weijia Liu, Wenshuang Zhang, Yi Yuan, Zitong Cheng, Xiaoguang Cheng, Junbo Liang, Yajun Liu   +18 more
wiley   +1 more source

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.

PLoS ONE
ObjectivesPrevious muscle imaging studies of GNE myopathy are limited to the lower extremities. This study aimed to use whole-body MRI to differentiate between GNE myopathy and other young adult-onset hereditary myopathies.Materials and methodsThis ...
Pattira Boonsri, Suppakorn Yamutai, Pramot Tanutit, Jirakit Sattayapornpipat, Chariyawan Charalsawadi, Prut Koonalintip, Pornchai Sathirapanya, Suwanna Setthawatcharawanich, Rattana Leelawattana, Pat Korathanakhun   +9 more
doaj   +1 more source

Mitochondria‐Targeted Nanotherapeutics: A Promising Strategy in Modulating Mitochondrial Function, Transfer, and Transplantation

Advanced Science, EarlyView.
This review summarizes the pathogenic role of mitochondria in diseases and highlights mitochondrial transfer and transplantation as emerging therapeutic strategies. It systematically discusses how nanomaterials are engineered to facilitate these processes, and critically examines the current challenges and future perspectives for their clinical ...
Yuanyuan Su, Zhiyan Gong, Jiao Mu, Lili Huang, Pengfei Yang, Chenli Zhang, Lingshan Zhao, Liling Yang, Jun Deng, Xiaohui Liao   +9 more
wiley   +1 more source

Mechanically Regulated Secretion: How Physical Forces Instruct the Secretory Pathway and Remodel the Secretome

Advanced Science, EarlyView.
Mechanical cues, including ECM stiffness, stretch, compression, shear stress, and traction forces, remodel trafficking across the secretory pathway, from the ER and Golgi to endolysosomal compartments and the plasma membrane. The resulting secretome reshapes ECM composition and tissue mechanics, establishing feedback loops that support homeostasis or ...
Domenico Russo, Seetharaman Parashuraman, Maria Luigia Maresca, Angela Francesca Dinoi, Alessia Calcagnì, Riccardo Rizzo   +5 more
wiley   +1 more source

Myopathy in acute hypothyroidism [PDF]

, 1987
Hypothyroid myopathy has so far been reported in long standing cases of hypothyroidism. We describe two adult patients with myopathy associated with acute transient hypothyroidism. Both presented with severe muscle aches and cramps, stiffness and spasms.
Ma, JTC, Kung, AWC, Yu, YL
core   +1 more source

Ultrafast Micrometric Laser Structuring of Polymer Surfaces for Highly Organized Skeletal Muscle Tissue Modeling

Advanced Science, EarlyView.
Standard cell culture supports were functionalized by laser‐structuring to generate advanced topographies tailored to skeletal muscle tissue. The physicochemical modifications of the polymeric surfaces and their interactions with cells were thoroughly investigated, confirming both safety and effectiveness in guiding muscle cell organization.
Lucas Duvert, Lorena Garcia‐Castillo, Clarissa Murru, Adrien Casanova, Daniel Ferry, Pierre Perrin, Solene Coste, Anne Bigot, Anne‐Patricia Alloncle, Frederique Magdinier, Stefano Testa   +10 more
wiley   +1 more source