Associated Papers
Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1].
Liu Y et al.
Molecular Genetics and Metabolism, 2025
Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature.
Geerts CJ et al.
Molecular Genetics and Metabolism, 2025
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C et al.
Clinical Genetics, 2019
CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Girard M et al.
Molecular Genetics and Metabolism, 2018
Modifier locus mapping of a transgenic F2 mouse population identifies CCDC115 as a novel aggressive prostate cancer modifier gene in humans.
Winter JM et al.
Bmc Genomics, 2018
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC et al.
American Journal of Human Genetics, 2016
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