| scholarly article | Q13442814 |
| P2093 | author name string | Bobby G Ng | |
| Hudson H Freeze | |||
| P2860 | cites work | Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation | Q61982495 |
| Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry | Q73586371 | ||
| X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings | Q87242657 | ||
| ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing | Q88685478 | ||
| A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis | Q24299581 | ||
| Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation | Q24301443 | ||
| Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij | Q24310193 | ||
| ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome | Q24316024 | ||
| SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function | Q24316126 | ||
| Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) | Q24318956 | ||
| Haploid genetic screens in human cells identify host factors used by pathogens | Q24336198 | ||
| Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A | Q24538812 | ||
| Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy | Q24564669 | ||
| Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
| Second messenger role for Mg2+ revealed by human T-cell immunodeficiency | Q24613811 | ||
| De novo mutations in epileptic encephalopathies | Q24621776 | ||
| A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews | Q24629265 | ||
| Genetic dissection of Flaviviridae host factors through genome-scale CRISPR screens | Q24705236 | ||
| A CRISPR screen defines a signal peptide processing pathway required by flaviviruses | Q24705237 | ||
| Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG | Q26824332 | ||
| Neurological aspects of human glycosylation disorders | Q26830686 | ||
| Solution Structure of Alg13: The Sugar Donor Subunit of a Yeast N-Acetylglucosamine Transferase | Q27650802 | ||
| Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation | Q27703190 | ||
| Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. | Q27932621 | ||
| Yeast mutants deficient in protein glycosylation | Q27933198 | ||
| Biosynthesis of lipid-linked oligosaccharides in Saccharomyces cerevisiae: Alg13p and Alg14p form a complex required for the formation of GlcNAc(2)-PP-dolichol | Q27935145 | ||
| Temperature-sensitive yeast mutants deficient in asparagine-linked glycosylation. | Q27939691 | ||
| Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1 | Q28286050 | ||
| Identification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus | Q28291275 | ||
| On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database | Q28610113 | ||
| Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. | Q30457921 | ||
| Identification of host cell factors required for intoxication through use of modified cholera toxin | Q30467347 | ||
| Dissecting the molecular organization of the translocon-associated protein complex. | Q30839688 | ||
| The genotypic and phenotypic spectrum of PIGA deficiency | Q30935460 | ||
| Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency | Q30988621 | ||
| The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition | Q32884479 | ||
| Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome | Q33677104 | ||
| The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter | Q33944533 | ||
| Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa | Q34162709 | ||
| A systematic mammalian genetic interaction map reveals pathways underlying ricin susceptibility | Q34581520 | ||
| Multiple phenotypes in phosphoglucomutase 1 deficiency | Q35216844 | ||
| The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria | Q35748335 | ||
| Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing | Q35801009 | ||
| Hematologically important mutations: leukocyte adhesion deficiency (first update). | Q35963681 | ||
| Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates | Q36096079 | ||
| Expanding the Molecular and Clinical Phenotype of SSR4-CDG. | Q36157289 | ||
| Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG. | Q36172720 | ||
| Synergistic drug combinations for cancer identified in a CRISPR screen for pairwise genetic interactions | Q36314597 | ||
| SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation | Q36369946 | ||
| Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome | Q36439344 | ||
| Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly | Q36451494 | ||
| A Haploid Genetic Screen Identifies Heparan Sulfate Proteoglycans Supporting Rift Valley Fever Virus Infection | Q36481559 | ||
| Enterovirus D68 receptor requirements unveiled by haploid genetics. | Q36563471 | ||
| Lectin-resistant CHO glycosylation mutants | Q36657268 | ||
| Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. | Q36731388 | ||
| Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation | Q36742544 | ||
| Congenital disorders of glycosylation: a rapidly expanding disease family | Q36824084 | ||
| ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan | Q36919737 | ||
| A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity | Q37035407 | ||
| Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts | Q37353246 | ||
| Mutations in STT3A and STT3B cause two congenital disorders of glycosylation | Q37463307 | ||
| Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry | Q37572562 | ||
| A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex | Q37593052 | ||
| Dystroglycanopathies: coming into focus | Q37852376 | ||
| Solving glycosylation disorders: fundamental approaches reveal complicated pathways | Q38186249 | ||
| Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A. | Q38333419 | ||
| The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients | Q38689946 | ||
| Genome-Wide Screening Uncovers the Significance of N-Sulfation of Heparan Sulfate as a Host Cell Factor for Chikungunya Virus Infection | Q38707906 | ||
| Monkeypox Virus Host Factor Screen Using Haploid Cells Identifies Essential Role of GARP Complex in Extracellular Virus Formation | Q38711122 | ||
| CAD mutations and uridine-responsive epileptic encephalopathy. | Q38779034 | ||
| A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology | Q38883296 | ||
| Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. | Q38912161 | ||
| Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality | Q39041557 | ||
| De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy | Q39081926 | ||
| Forward and reverse genetics through derivation of haploid mouse embryonic stem cells. | Q39181191 | ||
| What is new in CDG? | Q39292867 | ||
| Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan | Q39437022 | ||
| Genome-wide RNAi screens identify genes required for Ricin and PE intoxications. | Q39502247 | ||
| ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation | Q40059459 | ||
| Recent advancements in understanding mammalian O-mannosylation | Q40092479 | ||
| Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. | Q40772951 | ||
| Limitations of galactose therapy in phosphoglucomutase 1 deficiency | Q41220043 | ||
| A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. | Q42503266 | ||
| A vital sugar code for ricin toxicity | Q44759569 | ||
| Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing | Q45345386 | ||
| UDP-Gal/UDP-GlcNAc chimeric transporter complements mutation defect in mammalian cells deficient in UDP-Gal transporter. | Q46333249 | ||
| Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts | Q46633801 | ||
| Oral D-galactose supplementation in PGM1-CDG. | Q47106452 | ||
| Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy | Q47168266 | ||
| A Small-Molecule Oligosaccharyltransferase Inhibitor with Pan-flaviviral Activity | Q47280870 | ||
| High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies | Q47581915 | ||
| Congenital disorders of glycosylation (CDG): Quo vadis? | Q47872024 | ||
| A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy | Q47980981 | ||
| Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. | Q48184611 | ||
| SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy | Q48583701 | ||
| Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes | Q48585931 | ||
| Renal involvement in PMM2-CDG, a mini-review. | Q49922693 | ||
| High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. | Q50554469 | ||
| PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. | Q53059150 | ||
| Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. | Q54563073 | ||
| Diagnostic exome sequencing in persons with severe intellectual disability | Q55670486 | ||
| The genetic landscape of infantile spasms | Q57041043 | ||
| P433 | issue | 6 | |
| P304 | page(s) | 466-476 | |
| P577 | publication date | 2018-03-29 | |
| P1433 | published in | Trends in Genetics | Q2451468 |
| P1476 | title | Perspectives on Glycosylation and Its Congenital Disorders | |
| P478 | volume | 34 |
| Q89624331 | A Mutation Map for Human Glycoside Hydrolase Genes |
| Q90141226 | ALG12-CDG: novel glycophenotype insights endorse the molecular defect |
| Q94671558 | Aberrant glycosylation in schizophrenia: a review of 25 years of post-mortem brain studies |
| Q92588777 | Bacterial Lipid II Analogs: Novel In Vitro Substrates for Mammalian Oligosaccharyl Diphosphodolichol Diphosphatase (DLODP) Activities |
| Q91203992 | CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age |
| Q97885501 | DPAGT1-Mediated Protein N-Glycosylation Is Indispensable for Oocyte and Follicle Development in Mice |
| Q56356639 | Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation |
| Q102155398 | Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects |
| Q100762161 | Global view of human protein glycosylation pathways and functions |
| Q64912085 | Glycosylation in health and disease. |
| Q57470844 | High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect |
| Q91632603 | Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry |
| Q100946393 | Maternally inherited intron coordinates primordial germ cell homeostasis during Drosophila embryogenesis |
| Q92267937 | Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and Degradation |
| Q98178015 | Novel role for the Golgi membrane protein TMEM165 in control of migration and invasion for breast carcinoma |
| Q64039351 | 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 |
| Q92967388 | Nucleotide Sugar Transporter SLC35 Family Structure and Function |
| Q90023472 | Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation |
| Q92007890 | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals |
| Q89530747 | Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes |
| Q91962784 | Targeting STT3A-oligosaccharyltransferase with NGI-1 causes herpes simplex virus 1 dysfunction |
| Q91714140 | The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism |
| Q93219190 | The challenge of CDG diagnosis |
| Q98205390 | The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation |
| Q64041335 | The utility of phenomics in diagnosis of inherited metabolic disorders |
| Q64042165 | Unbiased glycomics: a powerful tool in rare disease diagnosis and research |
Search more.