| scholarly article | Q13442814 |
| P50 | author | Hudson H. Freeze | Q38320794 |
| Jessica X. Chong | Q38320777 | ||
| P2093 | author name string | Michael J Bamshad | |
| Bobby G Ng | |||
| P2860 | cites work | Diagnostic exome sequencing--are we there yet? | Q87407316 |
| Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3 | Q22254184 | ||
| Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE | Q24301093 | ||
| Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy | Q24308069 | ||
| 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 | ||
| Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan | Q24316123 | ||
| SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function | Q24316126 | ||
| Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation | Q24321247 | ||
| A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity | Q24321993 | ||
| Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells | Q24338139 | ||
| PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER. | Q24540354 | ||
| G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction | Q24621013 | ||
| New horizons for congenital myasthenic syndromes | Q24632782 | ||
| Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies | Q24651944 | ||
| A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy | Q24680115 | ||
| Mammalian O-mannosylation: unsolved questions of structure/function | Q26860991 | ||
| A method and server for predicting damaging missense mutations | Q27860835 | ||
| Physical interactions between the Alg1, Alg2, and Alg11 mannosyltransferases of the endoplasmic reticulum | Q27930404 | ||
| 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 | ||
| Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria | Q28252533 | ||
| Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome | Q28287700 | ||
| Identification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus | Q28291275 | ||
| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation | Q28478647 | ||
| Notch signalling in the paraxial mesoderm is most sensitive to reduced Pofut1 levels during early mouse development | Q28504465 | ||
| O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1 | Q28593826 | ||
| Metabolic manipulation of glycosylation disorders in humans and animal models | Q28749888 | ||
| Distribution and intensity of constraint in mammalian genomic sequence | Q29614574 | ||
| Biological roles of oligosaccharides: all of the theories are correct | Q29616459 | ||
| Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. | Q30457921 | ||
| Glycan microarrays for decoding the glycome | Q31004845 | ||
| Congenital myasthenic syndromes: recent advances | Q33534626 | ||
| Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome | Q33677104 | ||
| The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation | Q33839612 | ||
| O-fucose modulates Notch-controlled blood lineage commitment | Q33882530 | ||
| Notch: The Past, the Present, and the Future | Q34023784 | ||
| Roles of Glycosylation in Notch Signaling | Q34023789 | ||
| O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. | Q34090655 | ||
| Posttranslational modification of alpha-dystroglycan, the cellular receptor for arenaviruses, by the glycosyltransferase LARGE is critical for virus binding. | Q34123911 | ||
| Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. | Q34178475 | ||
| Neurology of inherited glycosylation disorders | Q34269429 | ||
| Databases and tools in glycobiology | Q34284341 | ||
| Predicting the functional effect of amino acid substitutions and indels | Q34441875 | ||
| Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect | Q34560899 | ||
| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. | Q34729925 | ||
| Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units | Q34820081 | ||
| Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides | Q35009876 | ||
| Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis | Q38330485 | ||
| DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. | Q41933116 | ||
| Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome | Q41963774 | ||
| Diagnosis of paroxysmal nocturnal hemoglobinuria in peripheral blood and bone marrow with six-color flow cytometry | Q44392295 | ||
| A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. | Q44477174 | ||
| Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR. | Q44947559 | ||
| Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing | Q45345386 | ||
| O-linked N-acetylglucosamine is present on the extracellular domain of notch receptors | Q46299933 | ||
| Diagnostic exome sequencing in persons with severe intellectual disability | Q55670486 | ||
| Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency | Q55671185 | ||
| Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia) | Q73896756 | ||
| Targeted therapy for inherited GPI deficiency | Q80178299 | ||
| Further characterization of ATP6V0A2-related autosomal recessive cutis laxa | Q84543285 | ||
| DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype | Q84565049 | ||
| Association between galactosylation of immunoglobulin G and improvement of rheumatoid arthritis during pregnancy is independent of sialylation | Q85653101 | ||
| Protein O-fucosyltransferase 1 (Pofut1) regulates lymphoid and myeloid homeostasis through modulation of Notch receptor ligand interactions | Q35030924 | ||
| The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria | Q35748335 | ||
| O-GlcNAc signalling: implications for cancer cell biology | Q35793071 | ||
| Cross talk between O-GlcNAcylation and phosphorylation: roles in signaling, transcription, and chronic disease | Q35804446 | ||
| Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome | Q35877816 | ||
| hCG, the wonder of today's science | Q35955447 | ||
| Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates | Q36096079 | ||
| Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation | Q36096115 | ||
| Hypoglycaemia related to inherited metabolic diseases in adults | Q36281448 | ||
| Methods for detection of carbohydrate-deficient glycoprotein syndromes | Q36439120 | ||
| 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 | ||
| Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes | Q36632525 | ||
| Understanding human glycosylation disorders: biochemistry leads the charge | Q36666135 | ||
| Glycoprotein disease markers and single protein-omics | Q36742398 | ||
| Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability | Q36742538 | ||
| Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation | Q36742544 | ||
| PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome | Q36742550 | ||
| Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology | Q36848271 | ||
| Notch signaling in normal and disease States: possible therapies related to glycosylation | Q36855548 | ||
| Congenital muscular dystrophies involving the O-mannose pathway | Q36855555 | ||
| Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease | Q36909265 | ||
| Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats | Q37249444 | ||
| Muscular dystrophies due to glycosylation defects | Q37329563 | ||
| Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry | Q37572562 | ||
| Dystroglycanopathies: coming into focus | Q37852376 | ||
| Golgi pH, its regulation and roles in human disease | Q37876406 | ||
| Glycodelin-A as a paracrine regulator in early pregnancy | Q37884970 | ||
| Structural remodeling, trafficking and functions of glycosylphosphatidylinositol-anchored proteins | Q37887098 | ||
| Golgi glycosylation and human inherited diseases | Q37895036 | ||
| GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics | Q37977724 | ||
| Diseases of glycosylation beyond classical congenital disorders of glycosylation | Q37985356 | ||
| The ever-expanding spectrum of congenital muscular dystrophies | Q38029277 | ||
| Transport of glycosylphosphatidylinositol-anchored proteins from the endoplasmic reticulum | Q38079103 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | glycosylation | Q898365 |
| P304 | page(s) | 161-175 | |
| P577 | publication date | 2014-02-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Solving glycosylation disorders: fundamental approaches reveal complicated pathways | |
| P478 | volume | 94 |
| Q35796410 | A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies |
| Q29347528 | A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. |
| Q35152903 | A glycogene mutation map for discovery of diseases of glycosylation |
| Q41929157 | A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation |
| Q36475070 | A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9 |
| Q41716945 | A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) |
| Q90631954 | ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome |
| Q29147535 | ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients |
| Q91355973 | Advances in mass spectrometry-based glycomics |
| Q59606902 | Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG) |
| Q99235847 | Axon growth and synaptic function: a balancing act for axonal regeneration and neuronal circuit formation in CNS trauma and disease |
| Q34462529 | Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors |
| Q38936714 | Biological roles of glycans |
| Q47678000 | Building a PGC-LC-MS N-glycan retention library and elution mapping resource |
| Q28114831 | CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation |
| Q47837938 | COG7 deficiency in Drosophila generates multifaceted developmental, behavioral and protein glycosylation phenotypes. |
| Q42969646 | Cell surface N-glycans influence the level of functional E-cadherin at the cell-cell border |
| Q38287439 | Cerebellar cysts in children: a pattern recognition approach |
| Q50661803 | Cerebellar hypoplasia: differential diagnosis and diagnostic approach. |
| Q48126829 | Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. |
| Q26771797 | Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement |
| Q38688788 | Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation |
| Q54959588 | Clinical glycomics for the diagnosis of congenital disorders of glycosylation. |
| Q33930289 | Comparative Analysis of Protein Glycosylation Pathways in Humans and the Fungal Pathogen Candida albicans |
| Q96953668 | Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia |
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| Q38646083 | Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE. |
| Q38283133 | Effects of N-glycan precursor length diversity on quality control of protein folding and on protein glycosylation |
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| Q49606754 | Functional implications of corticosteroid-binding globulin N-glycosylation |
| Q36276884 | GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway |
| Q35780370 | Genome-Wide Screening of Genes Required for Glycosylphosphatidylinositol Biosynthesis |
| Q59807834 | Genome-wide CRISPR screens for Shiga toxins and ricin reveal Golgi proteins critical for glycosylation |
| Q35801009 | Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing |
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| Q35725275 | Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology |
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| Q35679764 | Glycosylation Analysis for Congenital Disorders of Glycosylation |
| Q38964383 | Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders |
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| Q57470844 | High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect |
| Q40607522 | High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation |
| Q55384921 | Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3. |
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