Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology [0.03%]
模式构建法布雷病肾损害：从实验系统到精确肾脏病医学的见解
Hassan Elsaid,Jessica Furriol,Øystein Eikrem et al.
Hassan Elsaid et al.
Fabry nephropathy is a major cause of kidney failure in Fabry disease, caused by pathogenic GLA variants that reduce α-galactosidase A activity and lead to globotriaosylceramide (Gb3) accumulation. In recent years, rapid advances in experi...
Correction: Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion [0.03%]
纠正：硼替佐米诱导的人类神经元神经毒性是烟酰胺腺嘌呤二核苷酸耗竭的结果
Andrew R Snavely,Keunjung Heo,Veselina Petrova et al.
Andrew R Snavely et al.
Published Erratum
Disease models & mechanisms. 2026 May 1;19(5):dmm052989. DOI:10.1242/dmm.052989 2026
A mouse model of free sialic acid storage disorder: Hypomyelinating leukodystrophy and Purkinje cell degeneration [0.03%]
一种自由型岩藻糖神经节苷脂贮积症小鼠模型：脱髓鞘和浦肯野细胞变性
Mary E Hackbarth,Mahin S Hossain,Marya S Sabir et al.
Mary E Hackbarth et al.
Free sialic acid storage disorder (FSASD) is a rare, neurodegenerative, lysosomal storage disease caused by biallelic variants in SLC17A5, which encodes the lysosomal sialic acid exporter, sialin. While clinical severity varies, all affecte...
Anastasiia Kolesnikova,Kirupa Sathasivam,Solaleh Khoramian Tusi et al.
Anastasiia Kolesnikova et al.
Huntington's disease is caused by a CAG expansion in the HTT gene, leading to somatic repeat instability, alternative processing of HTT pre-mRNA, and mutant huntingtin protein production. To model these features, we generated a knock-in min...
Functional characterization of Furin-mediated lipoprotein lipase cleavage [0.03%]
关于Furin介导的脂蛋白脂肪酶切割的功能表征
Ming Jing Wu,Chelsea Yang,Sirui Wu et al.
Ming Jing Wu et al.
Lipoprotein lipase (LPL) is the rate-limiting enzyme that hydrolyzes triglycerides within circulating lipoproteins. LPL dysfunction leads to familial LPL deficiency, which is characterized by chylomicronemia and high risk for acute pancreat...
Chloe Kan,Lu Liu,Rio Sugimura
Chloe Kan
Organoids are 3D systems derived from stem cells that recapitulate human tissue microenvironments, offering a useful tool for a wide range of investigations, including developmental biology, drug screening and disease modelling. As the vasc...
Knockin expression of human ADAMTS5 impairs cardiovascular development and aggravates CCM formation in mice [0.03%]
人ADAMTS5的敲入表达会损害小鼠的心血管发育并加重CCM病变恶化
Xi Yang,Jieying Zhang,Zifeng Dai et al.
Xi Yang et al.
ADAMTS5 cleaves chondroitin sulfate proteoglycans such as versican and aggrecan. Adamts5-/- mouse model exhibited aortic anomalies, and increased expression of Adamts4/5 led to excessive versican degradation and reduced cardiac jelly. In ze...
The N-terminal region of malaria vaccine candidate Plasmodium falciparum asparagine-rich merozoite antigen is immunodominant and targeted by polyreactive antibodies [0.03%]
疟原虫天冬酰胺丰富配子体抗原的N端区域是免疫优势位点并可诱导广谱抗体产生
Rolando Garza,Jeffrey M Marchioni,Jared D Honeycutt et al.
Rolando Garza et al.
The development of malaria blood-stage vaccines has been hampered by sequence variation in many Plasmodium falciparum proteins involved in erythrocyte invasion. In the past few years, asparagine-rich merozoite antigen (PfARMA) has emerged a...
Leveraging organoid models to understand mechanisms of viral infections and immunity in bats [0.03%]
利用器官芯片模型了解蝙蝠病毒感染和免疫机制
Shelby R Madden,Agnieszka Rynda-Apple,Diane Bimczok
Shelby R Madden
Bats are important reservoir hosts for zoonotic viruses owing to their unusual ability to avoid development of clinical disease and pathological lesions upon viral infection. Research efforts to understand the unique responses of bats to vi...
Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes [0.03%]
亨廷顿舞蹈病转基因迷你猪的诱导多能干细胞显示早期代谢变化
Irena Rysankova,David Sekac,Hana Hansikova et al.
Irena Rysankova et al.
Huntington's disease (HD) is a neurodegenerative autosomal dominant hereditary disease caused by a CAG triplet repeat expansion mutation in the gene encoding the huntingtin (HTT) protein. The main feature of HD is the loss of striatal neuro...