Tatiana Orme
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View article: A deletion of <scp><i>IDUA</i></scp> exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I
A deletion of <span><i>IDUA</i></span> exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I Open
Background Mucopolysaccharidosis type I (MPS‐I) is a lysosomal storage disorder caused by a deficiency of the enzyme α‐ l ‐iduronidase, leading to accumulation of undegraded dermatan and heparan sulfates in the cells and secondary multiorg…
View article: Heritability and genetic variance of dementia with Lewy bodies
Heritability and genetic variance of dementia with Lewy bodies Open
Recent large-scale genetic studies have allowed for the first glimpse of the effects of common genetic variability in dementia with Lewy bodies (DLB), identifying risk variants with appreciable effect sizes. However, it is currently well e…
View article: Is <i><scp>APOE</scp></i> ε4 required for Alzheimer's disease to develop in <i><scp>TREM</scp>2</i> p.R47H variant carriers?
Is <i><span>APOE</span></i> ε4 required for Alzheimer's disease to develop in <i><span>TREM</span>2</i> p.R47H variant carriers? Open
Murray and colleagues [1] reported the occurrence of pathologically-confirmed Alzheimer's disease (AD) in cases harbouring the TREM2 p.R47H variant only when APOE ε4 alleles were also present. They suggested that the presence of an ε4 APOE…
View article: The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions
The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions Open
DLB shares risk loci with AD, in the APOE E4 allele, and with PD, in variation at GBA and SNCA. Interestingly, the GWAS suggested that DLB may also have genetic risk factors that are distinct from those in AD and PD. Although off to a slow…