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

[1]  Christian Gilissen,et al.  Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. , 2012, Human molecular genetics.

[2]  R. Rossi,et al.  Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. , 2012, Molecular genetics and metabolism.

[3]  E. Morava,et al.  Congenital disorders of glycosylation: sweet news , 2011, Current opinion in pediatrics.

[4]  J. Schuurs-Hoeijmakers,et al.  Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation , 2011, PLoS genetics.

[5]  E. Morava,et al.  How to find and diagnose a CDG due to defective N-glycosylation , 2011, Journal of Inherited Metabolic Disease.

[6]  J. Jaeken,et al.  Congenital disorders of glycosylation , 2010, Annals of the New York Academy of Sciences.

[7]  Christian Gilissen,et al.  Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. , 2010, American journal of human genetics.

[8]  M. Kukuruzinska,et al.  N-Glycosylation Gene DPAGT1 Is a Target of the Wnt/β-Catenin Signaling Pathway* , 2010, The Journal of Biological Chemistry.

[9]  Christian Gilissen,et al.  Massively parallel sequencing of ataxia genes after array‐based enrichment , 2010, Human mutation.

[10]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[11]  J. Fernández-Recio,et al.  Helix propensities of conformationally restricted amino acids. Non-natural substitutes for helix breaking proline and helix forming alanine. , 2010, Organic & biomolecular chemistry.

[12]  E. Capriotti,et al.  Functional annotations improve the predictive score of human disease‐related mutations in proteins , 2009, Human mutation.

[13]  J. Hofsteenge,et al.  Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. , 2009, American journal of human genetics.

[14]  J. Gécz,et al.  Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. , 2008, American journal of human genetics.

[15]  G. Matthijs,et al.  Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening , 2007, Journal of Neurology.

[16]  D. Appleton,et al.  Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype , 2007, Journal of Clinical Neuroscience.

[17]  Shigeru Chiba,et al.  A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. , 2005, Cancer research.

[18]  S. Vuillaumier-Barrot Diagnostic moléculaire des anomalies congénitales de la glycosylation , 2005 .

[19]  H. Freeze,et al.  Deficiency of UDP‐GlcNAc:Dolichol Phosphate N‐Acetylglucosamine‐1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij , 2003, Human mutation.

[20]  Steven Henikoff,et al.  SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..

[21]  H. Freeze Human disorders in N-glycosylation and animal models. , 2002, Biochimica et biophysica acta.

[22]  J. Marth,et al.  A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality. , 1999, Glycobiology.

[23]  A. Eisenberg,et al.  A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. , 1989, Nucleic acids research.

[24]  D. Babovic‐Vuksanovic,et al.  Laboratory Diagnosis of Congenital Disorders of Glycosylation Type I by Analysis of Transferrin Glycoforms , 2012, Molecular Diagnosis & Therapy.

[25]  Z. Al-Hassnan,et al.  Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping. , 2012, JIMD reports.

[26]  S. Vuillaumier‐Barrot [Molecular diagnosis of congenital disorders of glycosylation]. , 2005, Annales de Biologie Clinique.

[27]  S Rozen,et al.  Primer3 on the WWW for general users and for biologist programmers. , 2000, Methods in molecular biology.

[28]  H. G. Eijk,et al.  Optimized separation and quantitation of serum and cerebrospinal fluid transferrin subfractions defined by differences in iron saturation or glycan composition. , 1994 .