Impairment of neuronal activity occurs at the early stages of the aggregation cascade of Aβ1-42 and mutant Tau [0.03%]
淀粉样蛋白Aβ1-42和突变Tau聚集级联的早期阶段即会出现神经元活性损伤
Franziska Hirsch,Nino Läubli,Anushree Kelkar et al.
Franziska Hirsch et al.
Alzheimer's disease (AD) is a progressive neurodegenerative disease that is characterized by the accumulation of amyloid-β (Aβ) plaques and neurofibrillary Tau tangles, ultimately leading to brain atrophy and death. To elucidate the relat...
The ALX1 transcription factor acts in the early cranial mesoderm to specify extraocular muscle formation [0.03%]
转录因子ALX1通过作用于早期颅中胚层来决定眼外肌的形成
Paul P R Iyyanar,Nirpesh Adhikari,Yu Lan et al.
Paul P R Iyyanar et al.
Loss of ALX1 gene function causes severe facial clefting and extreme microphthalmia. Previous studies suggest that ALX1 protein function is crucial for patterning the cranial neural crest cell (CNCC)-derived frontonasal mesenchyme, but how ...
Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes [0.03%]
多组学分析识别了CHD7的作用分子靶点以贡献于CHD综合征模型表型
Melody B Hancock,Dana R Ruby,Rachael A Bieler et al.
Melody B Hancock et al.
CHARGE syndrome is a developmental disorder that affects 1 in 10,000 births, and patients exhibit both physical and behavioral characteristics. De novo mutations in CHD7 (chromodomain helicase DNA binding protein 7) cause 67% of CHARGE synd...
Rachel Hackett,E Elizabeth Patton
Rachel Hackett
A 3D lymph node model for chronic lymphocytic leukaemia recapitulates microenvironmental features and drug response in vitro [0.03%]
一种慢性淋巴细胞白血病的3D淋巴结模型在体外再现了微环境特征和药物反应
Daniela Belloni,Dafne Barozzi,Giulia Milani et al.
Daniela Belloni et al.
Chronic lymphocytic leukaemia (CLL) cells circulate between the blood, bone marrow (BM), and lymphoid organs, where interactions with the lymph node (LN) microenvironment enhance their survival, proliferation, and drug resistance. Most in v...
Long-chain polyphosphates induce glomerular microthrombi and exacerbate LPS-induced acute kidney injury in mouse [0.03%]
长链多聚磷酸盐可诱导肾小球微血栓并加重脂多糖致急性肾脏损伤(小鼠)
Anniina Pirttiniemi,Hanne Salmenkari,Krishna Adeshara et al.
Anniina Pirttiniemi et al.
Polyphosphates are evolutionarily conserved anionic polymers mediating pleiotropic functions in eukaryotes and prokaryotes, depending on their chain-length. Bacteria typically synthetize long-chains, while human platelets harbour exclusivel...
Mutant huntingtin expression in somatostatin-positive interneurons contributes to neurophysiological and behavioral phenotypes in BACHD mice [0.03%]
突变型亨廷顿蛋白在分泌素阳性中间神经元中的表达对BACHD小鼠的神经生理学和行为表型产生影响
Jahmel A Fowler,Mariangela Scarduzio,Cayla Pool et al.
Jahmel A Fowler et al.
Huntington's Disease (HD) is caused by expansion of the polyglutamine stretch in the widely expressed Huntingtin (HTT) protein. HD patients have motor, psychiatric, and cognitive changes due to changes in a variety of neural circuits. Somat...
Intersections between proteostasis and immunity: insights from Caenorhabditis elegans [0.03%]
蛋白质稳态和免疫的交叉点——来自秀丽隐杆线虫的启示
Emily R Troemel,Patricija van Oosten-Hawle,Michalis Barkoulas
Emily R Troemel
Cells must properly synthesize, fold and degrade proteins to maintain protein homeostasis, or proteostasis. Studies in the model nematode host Caenorhabditis elegans have illuminated different ways in which proteostasis intersects with immu...
The Drosophila wing is a high-throughput and versatile screening tool for Tau-mediated disease mechanisms and drug discovery [0.03%]
果蝇翅膀是一种高效的tau介导的疾病机制和药物发现筛选工具
Miguel Ramirez-Moreno,Amber S Cooper,Tianshun Lian et al.
Miguel Ramirez-Moreno et al.
Tau protein contributes to microtubule stability, which is disrupted in Alzheimer's disease and other Tauopathies. In these diseases, Tau molecules become hyperphosphorylated, misfolded and aggregated, propagating pathology across the brain...
Longitudinal characterization of Gaac.1826dupA mouse reveals cardiac, myopathic, biochemical phenotypes of Pompe disease [0.03%]
纵向表征Gaac.1826dupA小鼠揭示Pompe病的的心脏、肌病和生化特征
Jerry F Harb,Shih-Hsin Kan,Chloe L Christensen et al.
Jerry F Harb et al.
Pompe disease (PD) is a rare autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, leading to lysosomal glycogen accumulation. Pathogenic GAA variants result in enzyme dysfunction and glycogen storage in cardiac, skel...