Author

Sandrine Chan Moi Fat

Macquarie UniversityORCID 0000-0002-6304-0283Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Organism:mouse· 1 Assay:proteomics· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ian P. BlairiD· 3 shared Jennifer A. FifitaiD· 2 shared Kelly L. WilliamsiD· 2 shared Lyndal HendeniD· 2 shared Natalie GrimaiD· 2 shared Sharlynn WuiD· 2 shared Albert LeeiD· 1 shared Alison L. HoganiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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3 shared papersNeuroscience

Ian P. BlairORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 13, 2026

Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis

Zoe N. Zussa, Andrew Smith, Joke J.F.A. van Vugt…·Lyndal Henden

This study examines ZFHX3 GGC repeat expansions in ALS and finds no association with disease risk, but identifies diverse repeat motif compositions.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

NeurosciencebioRxivPreprintOct 29, 2024

Impaired maturation of wild-type superoxide dismutase 1 associated with neurodegeneration in Parkinson disease brain and a novel murine model

Amr H. Abdeen, Benjamin Guy Trist, Sara Nikseresht…·Kay L. Double

The paper investigates wild-type SOD1 misfolding in Parkinson's disease using proteomics and a novel mouse model, showing mismetallation and altered post-translational modifications contribute to pathology and dopamine neuron degeneration.

DOI 10.1101/2024.10.29.620972

mouseproteomics

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NeuroscienceNeuropathology and Applied NeurobiologyPeer-reviewedJul 21, 2021

SFPQ intron retention, reduced expression and aggregate formation in central nervous system tissue are pathological features of amyotrophic lateral sclerosis

Alison L. Hogan, Natalie Grima, Jennifer A. Fifita…·Ian P. Blair

This study examines SFPQ dysregulation in ALS patients, finding increased intron retention, reduced mRNA expression in motor cortex, and cytoplasmic aggregates.

25 citations

humanbulk RNA-seq

𝕏 PostBluesky