Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments
ABSTRACTStargardt disease (STGD), the leading cause of inherited childhood blindness, is primarily caused by mutations in...
The Company of Biologists: celebrating 100 years
Summary: As we begin celebrating our 100-year anniversary, we reflect on our extraordinary story so far,...
Dose-dependent effects of Nrf2 on the epidermis in chronic skin inflammation
ABSTRACTAtopic dermatitis (AD) is a chronic inflammatory skin disease, characterized by an impaired epidermal barrier and...
First person – Michael Koch
ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers...
Loss of function of VCP/TER94 causes neurodegeneration
ABSTRACTVariants in several genes are linked to human frontotemporal lobar degeneration (FTLD) associated with TDP43- and/or...
Making sense of missense: challenges and opportunities in variant pathogenicity prediction
ABSTRACTComputational tools for predicting variant pathogenicity are widely used to support clinical variant interpretation. Recently, several...
First person – Mireia Sueca-Comes
ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers...
The role of mesenchymal cells in cholangiocarcinoma
ABSTRACTThe tumour microenvironment (TME) significantly influences tumour formation and progression through dynamic interactions. Cholangiocarcinoma (CCA), a...
Slc26a2 -mediated sulfate metabolism is important in tooth development
ABSTRACTThe sulfate transporter gene SLC26A2 is crucial for skeletal formation, as evidenced by its role in...
Stat3 mediates Fyn kinase-driven dopaminergic neurodegeneration and microglia activation
ABSTRACTThe Alzheimer's disease and Parkinson's disease risk locus FYN kinase is implicated in neurodegeneration and inflammatory...
Generation of a zebrafish neurofibromatosis model via inducible knockout of nf2a/b
ABSTRACTNeurofibromatosis type 2 (NF-2) is a dominantly inherited genetic disorder that results from variants in the...
First person – Ayyappa Raja Desingu Rajan
ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers...
Modelling quiescence exit of neural stem cells reveals a FOXG1-FOXO6 axis
ABSTRACTThe molecular mechanisms controlling the balance of quiescence and proliferation in adult neural stem cells (NSCs)...
A high-fat plus high-sucrose diet induces age-related macular degeneration in an experimental rabbit model
ABSTRACTAge-related macular degeneration (AMD) is a leading cause of blindness. Metabolic disorders and diets are risk...
First person – Yujiao Wang
ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers...
It's about time: the heterochronic background for the 2024 Nobel Prize in Physiology or Medicine
ABSTRACTThe 2024 Nobel Prize in Physiology or Medicine has been awarded to Victor Ambros and Gary...
Early-life cisplatin exposure induces neuroinflammation and chemotherapy-induced neuropathic pain
ABSTRACTChemotherapy-induced neuropathic pain (CINP) is a common adverse health-related comorbidity that manifests later in life in...
First person – Nouf Khan and Talhah Mohd Salmi
ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers...
Optimized methods to image hepatic lipid droplets in zebrafish larvae
ABSTRACTThe optical transparency of zebrafish larvae enables visualization of subcellular structures in intact organs, and these...
Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping
ABSTRACTCongenital heart defects (CHDs), the most common congenital anomalies, are considered to have a significant genetic...
Modulation of SNARE-dependent exocytosis in astrocytes improves neuropathology in Huntington's disease
ABSTRACTHuntington's disease (HD) is a fatal, progressive neurodegenerative disorder. Prior studies revealed an increase in extracellular...
