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
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H et al.
Journal of Inherited Metabolic Disease, 2021
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
Farolfi M et al.
Bmc Ophthalmology, 2021
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Bian Y et al.
Journal of Human Genetics, 2020
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N et al.
Human Mutation, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
Leroy JG
Pediatric Research, 2006
Metabolic mimics: the disorders of N-linked glycosylation.
Patterson MC
Seminars in Pediatric Neurology, 2005
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.
Sun L et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Congenital disorders involving defective N-glycosylation of proteins.
Schachter H
Cellular and Molecular Life Sciences : Cmls, 2001
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.
Körner C et al.
The Embo Journal, 1999
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