Associated Papers
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
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.
Rayner SL et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS
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
Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.
Zhao B et al.
Molecular Neurobiology, 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
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
ALS-linked loss of Cyclin-F function affects HSP90.
Siebert A et al.
Life Science Alliance, 2022
Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum.
Tábuas-Pereira M et al.
Frontiers in Neurology, 2022
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
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
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Williams KL et al.
Nature Communications, 2016
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