Associated Papers
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová J et al.
American Journal of Medical Genetics. Part A, 2021
34467644 (PubMed )
Supplement: AJMG-185-3494-s003.xlsx › FINAL
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L et al.
Glycoconjugate Journal, 2019
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
Kranz C et al.
American Journal of Medical Genetics. Part A, 2007
Protein glycosylation, conserved from yeast to man: a model organism helps elucidate congenital human diseases.
Lehle L et al.
Angewandte Chemie (international Ed. in English), 2006
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.
Eklund EA et al.
Molecular Genetics and Metabolism, 2005
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature.
Di Rocco M et al.
Journal of Inherited Metabolic Disease, 2005
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.
Thiel C et al.
The Biochemical Journal, 2002
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