Associated Papers
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Cavestro C et al.
Annals of Clinical and Translational Neurology, 2024
COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy.
Zheng Y et al.
Cell Discovery, 2024
A Mild Form of Neurodegeneration with Brain Iron Accumulation attributed to Coenzyme A Synthase Mutation.
Hashemi N et al.
Movement Disorders Clinical Practice, 2023
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
van Dijk T et al.
European Journal of Human Genetics : Ejhg, 2018
CoA synthase regulates mitotic fidelity via CBP-mediated acetylation.
Lin CC et al.
Nature Communications, 2018
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers C et al.
Molecular Genetics and Metabolism, 2017
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Evers C et al.
American Journal of Medical Genetics. Part A, 2017
Mutational analysis of COASY in an Italian patient with NBIA.
Annesi G et al.
Parkinsonism & Related Disorders, 2016
Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.
Kinghorn KJ et al.
Rare Diseases (austin, Tex.), 2016
Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.
Ceccatelli Berti C et al.
Microbial Cell (graz, Austria), 2015
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Dusi S et al.
American Journal of Human Genetics, 2014
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