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Dysregulation of Caveolin-1 (CAV1), a key component of caveolae, leads to pleiotropic disorders; yet, the mechanisms controlling its trafficking remain unclear. Here, we show that the lipid droplet (LD) biogenesis factor seipin controls CAV1 localization. Seipin deficiency in mice and HeLa cells ...

2025-07-22 | MTBLS12759 | MetaboLights
Schizophrenia (SCZ) is a common, disabling mental illness with high heritability but complex, poorly understood genetic etiology. As the first phase of a genomic convergence analysis of SCZ, we generated 16.7 billion nucleotides of short read, shotgun sequences of cDNA from post-mortem cerebellar c...
ORGANISM(S): Homo sapiens 
Mutations in LZTR1, an adaptor for cullin 3 (CUL3) ubiquitin ligase complex, are associated with glioma, hepatocarcinoma, paediatric cancers, Schwannomatosis, and Noonan syndrome (NS). NS is a poorly understood and complex disease. The variety of NS phenotypes makes it challenging to elucidate the m...
ORGANISM(S): Homo sapiens (Human) 
2020-10-14 | PXD011926 | Pride
During development the fetal heart undergoes a rapid and dramatic transition to adult function through transcriptional and post-transcriptional mechanisms, including alternative splicing (AS). We performed deep RNA-sequencing for high-resolution analysis of transcriptome changes during postnatal mou...
ORGANISM(S): Mus musculus 
KATNAL2 mutation cause hydrocephalus by impairing vesicular trafficking and ependymal cell polarity in ASD
The ability to survive stress conditions is important for every living cell. Some stresses can affect not only current cell well-being, but may have far-reaching consequences. Uncurbed oxidative stress can cause DNA damage and the decrease in cell survival and/or increase in mutation rate. Some subs...
ORGANISM(S): Saccharomyces cerevisiae 
2015-03-16 | GSE59193 | GEO
Autism spectrum disorders (ASD) are characterized by intricate neurodevelopmental abnormalities, yet the molecular underpinnings remain elusive for many high-risk genes, including KATNAL2. Here, we identify KATNAL2 as a key regulator of the intracellular vesicular system in the ependymal epithelium,...
ORGANISM(S): Mus musculus 
2025-05-01 | GSE278728 | GEO
Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1 (REP-1), an escort protein involved in the prenylation of Rabs. Under-prenylation of certain Rabs, as a result of loss of function mutations in REP-1, could affect vesicu...
ORGANISM(S): Homo sapiens 
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