Australian Brain Bee Challenge WA 2022
St Mary’s Anglican Girls’ School has taken out top prize in the Australian Brain Bee Challenge held at The University...
Continue reading
Research groups:
Dr Abigail Pfaff
BSc, PhD Postdoctoral ScientistDr Abigail Pfaff has a first-class degree in Anatomy and Human Biology and in 2013 completed a PhD through the Department of Molecular and Cellular Pharmacology at the University of Liverpool. Dr Pfaff is a post-doctoral researcher in the Genetic Epidemiology group led by Sulev Kõks at the Perron Institute and CMMIT. She is currently investigating the role of retrotransposons, a type of mobile DNA, in neurodegenerative disease focusing on Parkinson’s and motor neurone disease.
Publications
At the dawn of the transcriptomic medicine (2021)
Experimental Biology and Medicine. 246(3):286-292. DOI: 10.1177/1535370220954788
Transcript variants of genes involved in neurodegeneration are differentially regulated by the apoe and mapt haplotypes (2021)
Genes. 12(3) DOI: 10.3390/genes12030423
Variable number tandem repeats – Their emerging role in sickness and health (2021)
Experimental Biology and Medicine. 246(12):1368-1376. DOI: 10.1177/15353702211003511
Expression quantitative trait loci (eQTLs) associated with retrotransposons demonstrate their modulatory effect on the transcriptome (2021)
International Journal of Molecular Sciences. 22(12) DOI: 10.3390/ijms22126319
The TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease (2021)
Scientific Reports. 11(1) DOI: 10.1038/s41598-021-85510-0
Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression (2021)
npj Parkinson's Disease. 7(1) DOI: 10.1038/s41531-021-00189-4
TOMM40 ‘523’ poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson’s disease (2021)
npj Parkinson's Disease. 7(1) DOI: 10.1038/s41531-021-00200-y
Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis (2020)
Molecular brain. 13(1) DOI: 10.1186/s13041-020-00694-2
Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort (2020)
Neurology: Genetics. 6(4) DOI: 10.1212/NXG.0000000000000470
An increased burden of highly active retrotransposition competent l1s is associated with parkinson’s disease risk and progression in the PPMI cohort (2020)
International Journal of Molecular Sciences. 21(18):1-13. DOI: 10.3390/ijms21186562
Single Nucleotide Polymorphisms Associated With Gut Homeostasis Influence Risk and Age-at-Onset of Parkinson’s Disease (2020)
Frontiers in Aging Neuroscience. 12 DOI: 10.3389/fnagi.2020.603849
Retrotransposons in the development and progression of amyotrophic lateral sclerosis (2019)
Journal of Neurology, Neurosurgery and Psychiatry. 90(3):284-293. DOI: 10.1136/jnnp-2018-319210
Non-coding genetic variation shaping mental health (2019)
Current Opinion in Psychology. 27:18-24. DOI: 10.1016/j.copsyc.2018.07.006
The role of SINE-VNTR-Alu (SVA) retrotransposons in shaping the human genome (2019)
International Journal of Molecular Sciences. 20(23) DOI: 10.3390/ijms20235977
Potential impact of primate-specific SVA retrotransposons during the evolution of human cognitive function (2017)
Trends in Evolutionary Biology. 6(1) DOI: 10.4081/ni.2017.6514
The RNA processing factors THRAP3 and BCLAF1 promote the DNA damage response through selective mRNA splicing and nuclear export (2017)
Nucleic Acids Research. 45(22):12816-12833. DOI: 10.1093/nar/gkx1046
Molecular signatures of mood stabilisers highlight the role of the transcription factor REST/NRSF (2015)
Journal of Affective Disorders. 172:63-73. DOI: 10.1016/j.jad.2014.09.024
Latest news
Keep informed with our latest updates.