Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Histopathology of Skeletal Muscle in a Distal Motor Neuropathy Associated with a Mutant CCT5 Subunit: Clues for Future Developments to Improve Differential Diagnosis and Personalized Therapy.
Scalia F et al.
Biology, 2023
Structural and Dynamic Disturbances Revealed by Molecular Dynamics Simulations Predict the Impact on Function of CCT5 Chaperonin Mutations Associated with Rare Severe Distal Neuropathies.
Scalia F et al.
International Journal of Molecular Sciences, 2023
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.
Antona V et al.
International Journal of Molecular Sciences, 2020
Molecular mechanisms in chaperonopathies: clues to understanding the histopathological abnormalities and developing novel therapies.
Macario AJ et al.
The Journal of Pathology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.
Yin J et al.
Frontiers in Genetics, 2019
Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis.
Minegishi Y et al.
Investigative Ophthalmology & Visual Science, 2018
Quantitative analysis of the impact of a human pathogenic mutation on the CCT5 chaperonin subunit using a proxy archaeal ortholog.
Spigolon D et al.
Biochemistry and Biophysics Reports, 2017
Structure of the human TRiC/CCT Subunit 5 associated with hereditary sensory neuropathy.
Pereira JH et al.
Scientific Reports, 2017
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.
Minegishi Y et al.
Scientific Reports, 2016
A human CCT5 gene mutation causing distal neuropathy impairs hexadecamer assembly in an archaeal model.
Min W et al.
Scientific Reports, 2014
Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy.
Sergeeva OA et al.
The Journal of Biological Chemistry, 2014
Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.
Bouhouche A et al.
Journal of Medical Genetics, 2006