Results 71 to 80 of about 13,168 (270)

Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor [PDF]

, 1994
The receptor for the inhibitory neurotransmitter glycine is a member of the ligand gated ion channel recep tor superfamily. Point mutations in the gene encoding the alpha 1 subunit of the glycine receptor channel complex (GlyR) have recently been ...
Rajendra, Sundran, Lynch, Joseph W., Barry, Peter H., French, Chris R., Schofield, Peter R., Pierce, Kerrie D.   +5 more
core  

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

, 1994
Startle disease, or hyperekplexia, is characterized by an exaggerated startle reflex and neonatal hypertonia. An autosomal dominant form of the disorder is associated with mutations in the same codon of the alpha 1 subunit of the inhibitory glycine ...
Andrew, M., Jawad, S., Rees, M. I., Owen, Michael John   +3 more
core   +1 more source

Recent Advances in Laser‐Induced Graphene‐Based Gas Sensors: From Sensing Mechanisms to Biomedical Applications

Advanced Science, EarlyView.
Laser‐induced graphene (LIG) provides a scalable, laser‐direct‐written route to porous graphene architecture with tunable chemistry and defect density. Through heterojunction engineering, catalytic functionalization, and intrinsic self‐heating, LIG achieves highly sensitive and selective detection of NOX, NH3, H2, and humidity, supporting next ...
Md Abu Sayeed Biswas, Ankan Dutta, Shuvendu Das, Abu Musa Abdullah, Wanqing Zhang, Fatema Tuz Zohra, Huanyu Cheng   +6 more
wiley   +1 more source

A critical role for glycine transporters in hyperexcitability disorders

Frontiers in Molecular Neuroscience, 2008
Defects in mammalian glycinergic neurotransmission result in a complex motor disorder characterized by neonatal hypertonia and an exaggerated startle refl ex, known as hyperekplexia (OMIM 149400).
Robert J Harvey, Eloisa Carta, Brian R Pearce, Seo-Kyung Chung, Stéphane Supplisson, Mark I Rees, Mark I Rees, Kirsten Harvey   +7 more
doaj   +1 more source

Integrated Opto–Biomechatronics For Single Muscle Fibre Structure‐Function Assessment: The MyoRobot 3.0

Advanced Science, EarlyView.
We present the MyoRobot 3.0, an advanced platform that combines high‐resolution imaging with automated mechanical testing to improve the accuracy of single muscle fibre analysis. The system tracks fibre diameter changes during stretch, preventing major stress miscalculations.
Michael Haug, Moritz Hellmann, Larysa Kovbasyuk, Maria Eleni Vazakidou, Milena Theis, Oliver Friedrich   +5 more
wiley   +1 more source

SuFEx‐Enabled Reprogramming of Flavonoids for Selective α‐Glucosidase Covalent Inhibition

Advanced Science, EarlyView.
Selective inhibition of intestinal α‐glucosidase remains limited by poor enzyme specificity and off‐target metabolic effects. Here, SuFEx click chemistry is used to reprogram natural flavonoids into covalent inhibitors with enhanced α‐glucosidase selectivity and controlled reactivity. This strategy enables effective regulation of carbohydrate digestion
Fengyu Guo, Liwei Zhang, Minlong Wang, Yanjin Du, Tianyu Zhang, Hao Chen, Jiazeng Sun, Yang Yu, Zude He, Jie An, Xiaoxu Zhang, Weilin Lin, Fazheng Ren, Pengjie Wang, Ping Liu   +14 more
wiley   +1 more source

A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination

Disease Models & Mechanisms, 2014
Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. This gene encodes the enzyme that converts N-acetylaspartate into acetate and aspartic acid.
Marina R. Carpinelli, Anne K. Voss, Michael G. Manning, Ashwyn A. Perera, Anne A. Cooray, Benjamin T. Kile, Rachel A. Burt   +6 more
doaj   +1 more source

Lesion Site‐Targeted Microspheres Modulate Nav1.7‐Related Signaling for Osteoarthritis Treatment

Advanced Science, EarlyView.
Cartilage‐targeted carbamazepine‐loaded WYRGRL‐modified composite microspheres (CBZ/WCOM) anchor to exposed type II collagen in osteoarthritic lesions and release carbamazepine under acidic conditions. This bind‐then‐release platform modulates Nav1.7‐related sodium signaling, Na⁺/Ca²⁺ exchanger‐associated Ca2+ dynamics, and heat shock protein 70 ...
Cheng Chen, Jiaying Li, Jinjin Ma, Xiaonan Yuan, Yao Xiao, Yang Zhang, Yuan Chen, Hao Jiang, Hui He, Jie Hu, Qianglong Chen, Jinniu Zhang, Bin Li, Yun Zhou, Fengxuan Han, Yong Wang   +15 more
wiley   +1 more source

PRMT9 Aggravated Dopaminergic Neurodegeneration in Parkinson's Disease Model by Facilitating the Degradation of DUSP26 and Inducing Mitochondrial Dysfunction

Advanced Science, EarlyView.
In the pathological state of PD induced by MPP+, the upregulated PRMT9 in dopaminergic neurons translocates into mitochondrion and interacts with DUSP26 and catalyzes its arginine methylation, leading to the ubiquitin‐proteasomal degradation of DUSP26 mediated by Trim32.
Tengfei Liu, Xiaomeng Song, Xin Guo, Rui Xiao, Ru Sun, Qiuran Ji, Lu Yu, Yiquan Li, Qingyi Fu, Qidi Xue, Lingjun Kong, Lin Chen, Chengjiang Gao, Huiqing Liu   +13 more
wiley   +1 more source

Sporadic hyperekplexia due to self-limiting brainstem encephalopathy

Neuropsychiatric Disease and Treatment, 2017
Dilek Yilmaz,1 Bülent Cengiz2 1Department of Neurology, Konya Numune State Hospital, Konya, 2Department of Neurology, Gazi University Faculty of Medicine, Ankara, Turkey Abstract: Hyperekplexia is a rare movement disorder characterized by ...
Yilmaz D, Cengiz B
doaj