CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Kelly L. Williams, Simon Topp, Shu Yang, +65

Nature Communications

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy

Albert Lee, Stephanie L. Rayner, Serene S. L. Gwee, +19

Cellular and Molecular Life Sciences

Pathogenic MutationCell AutophagyNeurodegenerative DiseasesAmyotrophic Lateral SclerosisMendelian Disorder +8

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype

Alison Hogan, Emily K. Don, Stephanie L. Rayner, +17

Human Molecular Genetics

Cell DeathCellular NeurobiologyCellular PhysiologySocial SciencesAls/ftd-linked Mutant Ccnf +14

Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF ^{(cyclin F)} complex

Albert Lee, Stephanie L. Rayner, Alana De Luca, +17

Open Biology

ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ

Stephanie L. Rayner, Flora Cheng, Alison Hogan, +13

Human Molecular Genetics

Overall Protein HomeostasisProtein FunctionFunctional GenomicsAmyotrophic Lateral SclerosisMendelian Disorder +11

Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis

Alison Hogan, Natalie Grima, Jennifer A. Fifita, +18

Neuropathology and Applied Neurobiology

TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex

Stephanie L. Rayner, Shu Yang, Natalie E. Farrawell, +13

Neurobiology of Disease

Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations

Flora Cheng, Alana De Luca, Alison Hogan, +21

Frontiers in Molecular Neuroscience

Identification of phosphorylated tau protein interactors in progressive supranuclear palsy (<scp>PSP</scp>) reveals networks involved in protein degradation, stress response, cytoskeletal dynamics, metabolic processes, and neurotransmission

Rowan A. W. Radford, Stephanie L. Rayner, Paulina Szwaja, +8

Journal of Neurochemistry

TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes

Yi Zeng, Anastasiia Lovchykova, Tetsuya Akiyama, +9

Nature Neuroscience