Synergism of IP3R and Parkin mutants identifies mitochondrial stress as an early feature of Parkinson's Disease [0.03%]
IP3受体和Parkin突变的协同作用揭示线粒体应激是帕金森病的一个早期特征
Mrudula Dileep,Anamika Sharma,Nandashree Kasturacharya et al.
Mrudula Dileep et al.
Our understanding of mechanisms underlying familial Parkinson's Disease (PD) have benefitted from studies in Drosophila models of PD. However, in a majority of PD patients the disease occurs sporadically and cellular phenotypes that arise e...
Physical and functional interaction of Lrrc56 and Odad3 is required for deployment of axonemal dyneins in vertebrate multiciliated cells [0.03%]
Lrrc56和Odad3的物理和功能相互作用要求在脊椎动物多纤毛细胞中部署轴突内动力蛋白
Nayeli G Reyes-Nava,Chanjae Lee,Ophelia Papoulas et al.
Nayeli G Reyes-Nava et al.
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous motile ciliopathy characterized by chronic respiratory disease, laterality defects, hydrocephalus, and infertility, caused by impaired function of motile cilia. LRRC56 has rece...
Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN Hamartoma Tumour Syndrome [0.03%]
PTEN功能受损诱发赖氏综合征患者的巨颅，淋巴结病和晚期癌症
Priyanka Tibarewal,Victoria Rathbone,Sarah E Conduit et al.
Priyanka Tibarewal et al.
PTEN Hamartoma Tumour Syndrome (PHTS), a rare disease caused by germline heterozygous PTEN mutations, is associated with multi-organ/tissue overgrowth, autism spectrum disorder and increased cancer risk. Phenotypic variability in PHTS is pa...
Recovery of α-L-Fucosidase in Fucosidosis nonsense variants by readthrough stimulation and release factor degradation [0.03%]
无意义突变型α-L-岩藻糖苷酶的读码框转移恢复及释放因子降解研究
Hannah Bäumges,Dennis Lebeda,Philip Deppe et al.
Hannah Bäumges et al.
Fucosidosis is an ultra-rare and fatal lysosomal storage disorder caused by the impaired lysosomal degradation of fucosylated glycoconjugates due to a deficiency in the lysosomal tissue α-L-fucosidase (FUCA1). The accumulation of fucosylat...
Decanoic acid extends lifespan and modulates metabolism in drosophila models of PLA2G6-associated neurodegeneration [0.03%]
癸酸盐通过调节溶血磷脂水平延缓PLA2G6神经退行性疾病的果蝇模型寿命及相关表型缺陷
Biqin Zhang,Ella Dunn,Robin S B Williams et al.
Biqin Zhang et al.
PLA2G6-associated neurodegeneration (PLAN) is a group of rare genetic disorders characterised by progressive neurodegeneration resulting from mutations in the PLA2G6 gene, encoding a calcium-independent phospholipase enzyme. Here, we explor...
Establishment of a second-generation transgenic marmoset with germline transmission that models polyglutamine disease [0.03%]
建立第二代可遗传的人类致病突变恒河猴模型
Eiko N Minakawa,Kensuke Owari,Naotake Nogami et al.
Eiko N Minakawa et al.
Neurodegenerative diseases, including polyglutamine diseases, remain a clinical challenge, partly because of limited animal models that recapitulate human disease. Here, we describe a second-generation transgenic marmoset model of spinocere...
Chaitali Khan,Nasser M Rusan
Chaitali Khan
Drosophila has long been a powerful model for cancer research, yet the development of robust metastatic tumor models remains a challenge. While allograft transplantation offers a promising approach, its use has been limited by technical con...
Advocating for automation in animal research: using home cage monitoring to advance welfare, reproducibility and scientific openness [0.03%]
在动物研究中倡导自动化：利用笼养监测技术提高福利、可重复性和科学开放性
COST Action TEATIME CA welfare group
COST Action TEATIME CA welfare group
Brain organoid models of Huntington's disease shift the focus towards neurodevelopment [0.03%]
亨廷顿舞蹈病脑类器官模型使研究焦点转向神经发育
Wenqing Xu,Alessandro Prigione
Wenqing Xu
Huntington's disease (HD) is traditionally viewed as an age-related disorder. Emerging evidence suggests that mutant huntingtin (mHTT) disrupts early neurodevelopment, although the contribution of developmental alterations to the late disea...
Mapping lung cancer ventilation dynamics: A pilot mouse study using functional imaging and lung mechanics [0.03%]
肺癌通气动力学的功能性成像和肺力学的鼠科动物研究
Ronan Smith,Nicole Reyne,Daniel Batey et al.
Ronan Smith et al.
In vivo models that replicate and reproduce human lung cancer and its response to therapy are necessary for the development of new therapeutic strategies and understanding drug resistance. Imaging lung tumors in live animals to monitor tumo...