Emma Jones
Papers
2
Total Citations
125
H-Index
2
About
Dr. Emma Jones is a molecular geneticist whose research bridges neurobiology and developmental disease, with a primary focus on the genetic underpinnings of cerebellar degeneration. Her seminal work centers on the *robotic* mouse, a mutant model for adult-onset cerebellar ataxia and cataracts. In her landmark 2003 study (72 citations), Dr. Jones identified a mutation in the *Af4* gene as the causal factor, demonstrating a striking, region-specific loss of Purkinje cells that mirrors human neurodegenerative conditions. This discovery was pivotal, as it linked *AF4*—a gene previously known only for its role in childhood leukemia—to central nervous system function. Expanding on this, her 2004 work (53 citations) elucidated the molecular pathway, revealing that Siah proteins mediate Af4’s function in the cerebellum. By connecting a leukemia-associated gene to neuronal survival, Dr. Jones has opened new avenues for understanding both ataxia and the pleiotropic roles of chromatin-regulating factors. Her work remains a cornerstone for researchers studying genetic models of neurodegeneration and the molecular mechanisms of Purkinje cell vulnerability.
Research Focus
Key Achievements
Top Papers
- 1
- 2Mediation of Af4 protein function in the cerebellum by Siah proteins53 citations · 2004