Results 151 to 160 of about 9,500,261 (386)

Impact of liver-specific survival motor neuron (SMN) depletion on central nervous system and peripheral tissue pathology

eLife
Spinal muscular atrophy (SMA) is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene. While traditionally viewed as a motor neuron disorder, there is involvement of various peripheral organs in SMA.
Monique Marylin Alves de Almeida, Yves De Repentigny, Sabrina Gagnon, Emma R Sutton, Rashmi Kothary   +4 more
doaj   +1 more source

Pediatric Neuromuscular Diseases [PDF]

, 1980
Emma I. Brett
openalex   +1 more source

Muscle Organoids Reveal Exercise‐Like Contractions Rapidly Promote Muscle Health Via Lamtor1's Signaling to Both AMPK and mTOR

Advanced Science, EarlyView.
This study develops a novel 3D human skeletal muscle organoid platform to study the immediate molecular effects of exercise‐like contractions. The model uncovers rapid proteomic and transcriptomic responses, resolving a fundamental paradox by demonstrating how exercise‐induced Lamtor1 coordinately activates both AMPK and mTORC1. Lamtor1 is a compelling
Ziyue Yao, Zongmin Jiang, Xupeng Liu, Liping Zhang, Siyu Guo, Yu Chen, Lanfang Luo, Shilin Ma, Peng Wang, Ng Shyh‐Chang   +9 more
wiley   +1 more source

Single‐Cell Immune Profiling Reveals Neutrophils Promote Myasthenia Gravis Exacerbation Through BAFF Secretion

Advanced Science, EarlyView.
Single‐cell transcriptomics and clinical data show that during myasthenia gravis (MG) exacerbation, bone marrow mature neutrophils expand and enter blood, with parallel increase of B‐cell activating factor (BAFF)–positive neutrophils. Experimental autoimmune myasthenia gravis (EAMG) confirms a pathogenic interferon‐γ (IFN‐γ)–neutrophil–BAFF axis ...
Zhaoxu Zhang, Jingya Dong, Mengyuan Qiu, Jie Bai, Xufeng Cheng, Xiaodong Song   +5 more
wiley   +1 more source

Respiratory failure and sleep in neuromuscular disease. [PDF]

, 1990
P.T. Bye, Elizabeth R. Ellis, Fuad Issa, PM Donnelly, Colin E. Sullivan   +4 more
openalex   +1 more source

DCAF12 Ubiquitin Ligase Promotes Lung Cancer Metastasis by Modulating the TRiC/CCT Chaperonin Complex

Advanced Science, EarlyView.
This study elucidates how DCAF12 facilitates non‐degradative ubiquitination to stabilize TRiC/CCT, thereby enhancing the folding capacity of chaperonins. This mechanism promotes the maturation of cytoskeletal proteins and activates key oncogenic drivers, including YAP, STAT3, and mTOR, ultimately driving metastatic progression in lung cancer.
Zhenyi Wang, Huanhuan Huang, Kaizong Huang, Xiaowen Cui, Leilei Wu, Renyu Lin, Zhe Zhao, Hua Chen, Cheng Zheng, Weilin Jin, Song Chen, Jiayan Chen, Yaping Xu, Dongping Wei   +13 more
wiley   +1 more source

Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy

Neurobiology of Disease
Charcot-Marie-Tooth disease (CMT) is a genetic peripheral neuropathy caused by mutations in many functionally diverse genes. The aminoacyl-tRNA synthetase (ARS) enzymes, which transfer amino acids to partner tRNAs for protein synthesis, represent the ...
Elena R. Rhymes, Rebecca L. Simkin, Ji Qu, David Villarroel-Campos, Sunaina Surana, Yao Tong, Ryan Shapiro, Robert W. Burgess, Xiang-Lei Yang, Giampietro Schiavo, James N. Sleigh   +10 more
doaj   +1 more source

Procyanidin B3 and Its Derivatives Alleviate Neuronal Injury by Targeting G3BP1 for Ischemic Stroke Therapy

Advanced Science, EarlyView.
Ischemic stroke is a serious disease with high rates of mortality and disability, but there is a lack of novel therapeutic targets and agents for it. Now it is shown that Ras GTPase‐activating protein SH3 domain‐binding protein 1 (G3BP1) has the potential to serve as a therapeutic target for ischemic stroke.
Heyanhao Zhang, Yuyu Zhang, Yibo Chen, Wen Zhong, Subei Tan, Jinghuan Wang, Huanren Yan, Ning Yan, Mengjia Lin, Xinhua Liu, Jun Chang   +10 more
wiley   +1 more source

Sleep Disordered Breathing in Children with Neuromuscular Disease. [PDF]

Children (Basel), 2023
Chidambaram AG, Jhawar S, McDonald CM, Nandalike K.   +3 more
europepmc   +1 more source

Noninvasive Positive Pressure Ventilation in Neuromuscular Disease [PDF]

, 1994
Nicholas S. Hill
openalex   +1 more source