Varaico: Literature-Extracted Genetic Variants

Gene:CCNF
Variant:p.S509P
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CCNF

NM_001761.3:p.S509P

Associated Papers

Exploring the Role of CCNF Variants in Italian ALS Patients.

Bisogni G et al.

Genes, 2024

Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.

Rayner SL et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2024

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

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."