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X-linked retinoschisis (XLRS) is among the most common inherited degenerative retinopathies. Functional impairment of RS1 protein is the cause of XLRS, which presents childhood onset with typical structural and functional alterations. However, the molecular mechanisms underlying RS1 malfunction rema...
ORGANISM(S): Mus Musculus 
2022-02-27 | PXD031901 |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder in which patients carry premutation alleles of 55-200 CGG repeats on the FMR1 gene. To date, whether alterations in epigenetic regulation modulate FXTAS has gone unexplored. 5-hydroxymethylcytosine (5hmC) ...
ORGANISM(S): Mus musculus 
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