Associated Papers
Inborn errors of canonical autophagy in neurodegenerative diseases.
Freisem D et al.
Human Molecular Genetics, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Beckers J et al.
Autophagy Reports, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Exploring the Role of CCNF Variants in Italian ALS Patients.
Bisogni G et al.
Genes, 2024
High-content analysis of proteostasis capacity in cellular models of amyotrophic lateral sclerosis (ALS).
Lambert-Smith IA et al.
Scientific Reports, 2024
Zebrafish CCNF and FUS Mediate Stress-Specific Motor Responses.
Aksoy YA et al.
Cells, 2024
ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation.
Ragagnin AMG et al.
Scientific Reports, 2023
The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis.
Davidson JM et al.
Molecular Neurobiology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.
Farrawell NE et al.
Human Molecular Genetics, 2023
Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.
Zhao B et al.
Molecular Neurobiology, 2023
TDP-43 pathology and functional deficits in wild-type and ALS/FTD mutant cyclin F mouse models.
van Hummel A et al.
Neuropathology and Applied Neurobiology, 2023
Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1.
Haouari S et al.
International Journal of Molecular Sciences, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
ALS-linked loss of Cyclin-F function affects HSP90.
Siebert A et al.
Life Science Alliance, 2022
Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Kirola L et al.
Molecular Neurobiology, 2022
TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex.
Rayner SL et al.
Neurobiology of Disease, 2022
The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Davidson JM et al.
Neurobiology of Disease, 2022
ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ.
Rayner SL et al.
Human Molecular Genetics, 2021
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.
Cheng F et al.
Frontiers in Molecular Neuroscience, 2021
Theme 3 In vitro experimental models.
Yang S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity.
Yu Y et al.
Human Molecular Genetics, 2019
Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNFS621G familial amyotrophic lateral sclerosis patient using mRNA reprogramming.
Bax M et al.
Stem Cell Research, 2019
Using proteomics to identify ubiquitin ligase-substrate pairs: how novel methods may unveil therapeutic targets for neurodegenerative diseases.
Rayner SL et al.
Cellular and Molecular Life Sciences : Cmls, 2019
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.
Tsai PC et al.
Neurobiology of Aging, 2018
Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.
Lee A et al.
Cellular and Molecular Life Sciences : Cmls, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Screening for CCNF Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort.
Tian D et al.
Frontiers in Aging Neuroscience, 2018
Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex.
Lee A et al.
Open Biology, 2017
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.
McCann EP et al.
Clinical Genetics, 2017
Cyclin F: A component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer.
Galper J et al.
The International Journal of Biochemistry & Cell Biology, 2017
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.
Hogan AL et al.
Human Molecular Genetics, 2017
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Williams KL et al.
Nature Communications, 2016