A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease

(2012) A.E. Würde et al.   MOLECULAR GENETICS AND METABOLISM

Congenital disorders of glycosylation

(2011) Miranda Theodore et al.   CURRENT OPINION IN PEDIATRICS

How to find and diagnose a CDG due to defective N-glycosylation

(2011) Dirk J. Lefeber et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

(2011) Dirk J. Lefeber et al.   PLoS Genetics

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital disorders of glycosylation

(2010) Jaak Jaeken   Annals of the New York Academy of Sciences

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

N-Glycosylation GeneDPAGT1Is a Target of the Wnt/β-Catenin Signaling Pathway

(2010) Pritam K. Sengupta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Helix propensities of conformationally restricted amino acids. Non-natural substitutes for helix breaking proline and helix forming alanine

(2010) Miriam Alías et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional annotations improve the predictive score of human disease-related mutations in proteins

(2009) Remo Calabrese et al.   HUMAN MUTATION

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

(2008) Florence Molinari et al.   AMERICAN JOURNAL OF HUMAN GENETICS