LncRNAs regulate cell drug resistance through competing with miRNAs or targeting genes, or mediating related signal pathways.

EM study of peripheral lymphocytes of autosomal dominant neuronal ceroid lipofuscinosis (ADNCL) patient's storage inclusions granular osmophilic deposits (GROD) on the left, and GROD and rectilinear body (RB) mixed type on the right. CSPα^−/− primary mouse cortical neurons were lentivirally infected with myc-tagged CSPα^WT, CSPα^L115R, CSPα^L116Δ, or empty lentivirus (control) on 7 days in vitro (DIV) and examined on 17 DIV. CSPα variants were visualized by immunofluorescence against myc (green); somatodendrites were visualized by anti-MAP2 (red); nuclei were stained by DAPI (blue). CSPα^WT formed distinct puncta, indicating presynapses, along dendrites, while mutant CSPα aggregates showed largely diffuse staining in the soma away from presynapses.

Huntington's disease is a autosomal dominant trinucleotide repeat disorder that results in motor, behavioral and cognitive dysfunction. Onset is usually in midlife but symptoms may start in childhood or late in life. Age of onset in relation to behavioral presentations were explored using a large manifest cohort. An inverse relationship was noted between age of onset and behavioral symptom presentations, highlighting an age associated difference in phenotypic presentations of Huntington's disease.

This study is the first exploration of genotype-phenotype relationships for 13 recurrent variants in CDKL5. We also re-examined the historic variant groupings previously used to investigate variants for the CDKL5 deficiency disorder. By applying two recently developed measures, we demonstrated that p.Arg178Trp, p.Arg559* and p.Arg178Gln variants produce severe phenotypes while variants producing milder phenotypes included p.Arg134*, p.Arg550* and p.Glu55Argfs*20. Our novel findings highlight the need for continued international collaboration between research groups to facilitate large study sizes and meaningful results for rare genetic conditions like the CDKL5 deficiency disorder.

The Ververi-Brady syndrome is a rare developmental disorder with a lot of hallmarks that are rather unspecific. We tried to further delineate the symptoms in this this study. Speech delay and notable social behaviour deficits seem to be the key symptoms. Our patients, as well as those described in the literature, all show mutations in the QRICH1 gene. We found three new variants that have not yet been described as well as one that has already been identified.