Patient-Specific iPSC Model of a Genetic Vascular Dementia Syndrome Reveals Failure of Mural Cells to Stabilize Capillary Structures
Sign Up to like & getrecommendations! Published in 2019 at "Stem Cell Reports"
DOI: 10.1016/j.stemcr.2019.10.004
Abstract: Summary CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of genetic stroke and vascular dementia syndrome resulting from mutations in NOTCH3. To elucidate molecular mechanisms of the condition… read more here.
Keywords: patient specific; vascular dementia; dementia; ipsc model ... See more keywords
A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.878236
Abstract: Heterozygous pathogenic variants in the STIP1 homologous and U-box containing protein 1 (STUB1) gene have been identified as causes of autosomal dominant inherited spinocerebellar ataxia type 48 (SCA48). SCA48 is characterized by an ataxic movement… read more here.
Keywords: splice; dementia syndrome; stub1; cryptic splice ... See more keywords
Pharmacological Approaches to the Treatment of Dementia in Down Syndrome: A Systematic Review of Randomized Clinical Studies
Sign Up to like & getrecommendations! Published in 2022 at "Molecules"
DOI: 10.3390/molecules27103244
Abstract: Down Syndrome (DS) is considered the most frequent form of Intellectual Disability, with important expressions of cognitive decline and early dementia. Studies on potential treatments for dementia in this population are still scarce. Thus, the… read more here.
Keywords: pharmacological approaches; review; dementia syndrome; dementia ... See more keywords