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MicroRNAs (miRNAs) are single-stranded non-coding RNAs that negatively regulate target gene expression through mRNA cleavage or translational repression. There is mounting evidence that they play critical roles in heart disease. The expression of known miRNAs in the heart has been studied at length ...
ORGANISM(S): Rattus norvegicus 
The sorting nexin SNX17 controls endosome-to-cell surface recycling of diverse transmembrane cargo proteins including integrins, the amyloid precursor protein and lipoprotein receptors. This requires association with the multi-subunit Commander trafficking complex, which depends on the C-terminus of...
ORGANISM(S): Homo sapiens (Human) 
2022-11-07 | PXD036424 | Pride
The exocyst is an octameric protein complex and an essential component of the membrane transport machinery required for tethering vesicles at the plasma membrane prior to fusion. Here we report on pathogenic variants in one of the exocyst subunits, EXOC2 (Sec5), in unrelated families. Analysis of pa...
ORGANISM(S): Homo sapiens (Human) 
2020-06-29 | PXD017107 | Pride
The metabolic reprogramming associated with characteristic increases in glucose and glutamine metabolism common in advanced cancer is often ascribed to answering a higher demand for metabolic intermediates required for rapid tumor cell growth. Instead, recent discoveries have pointed to an alternati...
ORGANISM(S): Homo sapiens (Human) 
2019-04-30 | PXD010820 | Pride
Genetic variants in RBMX may cause X-linked neurodevelopmental syndromes, but their pathogenicity and mechanisms remain unclear. Here, we provide definitive evidence from nine unrelated families that RBMX variants lead to neurodevelopmental disorders characterised by intellectual disability, brain m...
ORGANISM(S): Homo sapiens (Human) 
2026-07-28 | PXD066823 | Pride
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