A5021702533- Microtubule and mitosis dynamics
- Sperm and Testicular Function
- Hereditary Neurological Disorders
- Reproductive Biology and Fertility
- Endoplasmic Reticulum Stress and Disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Renal and related cancers
- DNA Repair Mechanisms
- Skin and Cellular Biology Research
- Cellular transport and secretion
- Lysosomal Storage Disorders Research
University of Cambridge
2024
The University of Melbourne
2022-2023
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining genetic basis NOA has proven challenging, advanced classification subforms not based on genetics, but simple description testis histology. In this study, we exome-sequenced over 1000 clinically diagnosed cases identified a plausible recessive Mendelian cause in 20%. We find further support for 21 genes 2-stage burden test with 2072 11,587 fertile controls. The disrupted are...
The development and function of male gametes is dependent on a dynamic microtubule network, yet how this regulated remains poorly understood. We have recently shown that severing, via the action meiotic AAA ATPase protein clade, plays crucial role in process. Here, we sought to elucidate roles spastin, an as-yet-unexplored member clade spermatogenesis. Using SpastKO/KO mouse model, reveal spastin loss resulted complete functional germ cells. Spastin assembly spindle. Consistent with failure,...
Mutation of the ATL1 gene is one most common causes hereditary spastic paraplegia (HSP), a group genetic neurodegenerative conditions characterised by distal axonal degeneration corticospinal tract axons. Atlastin-1, protein encoded ATL1, three mammalian atlastins, which are homologous dynamin-like GTPases that control endoplasmic reticulum (ER) morphology fusing tubules to form three-way junctions characterise ER networks. However, it not clear whether atlastin-1 required for correct in...
Abstract Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable with current medicine. Due to biological complexity sperm production, defining genetic basis NOA has proven challenging, date, advanced classification subforms based on simple description testis histology. In this study, we exome-sequenced over 1,000 clinically diagnosed cases identified a plausible recessive Mendelian cause in 20%. Population-based testing against fertile controls...
Abstract The development and function of male gametes is critically dependent on a dynamic microtubule network, yet how this regulated remains poorly understood. We have recently shown that severing, via the action meiotic AAA ATPase protein clade, plays critical role in process. Here, we sought to elucidate roles spastin, an as unexplored member clade spermatogenesis. Using Spast KO/KO mouse model, reveal spastin loss resulted complete functional germ cells. Spastin assembly spindle, its...