Congenital disorders of glycosylation: a rapidly expanding disease family.

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49

Metabolism, cell surface organization, and disease. Cell (2009) 2.41

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18

Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet (2009) 1.73

Golgi localization of glycosyltransferases requires a Vps74p oligomer. Dev Cell (2008) 1.62

Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. PLoS Genet (2013) 1.52

CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49

On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis (2008) 1.38

The chemical neurobiology of carbohydrates. Chem Rev (2008) 1.33

Glycosylation diseases: quo vadis? Biochim Biophys Acta (2008) 1.30

Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene. Proc Natl Acad Sci U S A (2009) 1.30

Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PLoS One (2009) 1.23

TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain (2013) 1.18

Role of vesicle tethering factors in the ER-Golgi membrane traffic. FEBS Lett (2009) 1.17

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet Med (2011) 1.15

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol (2014) 1.13

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet (2012) 1.09

MAN1B1 deficiency: an unexpected CDG-II. PLoS Genet (2013) 1.03

Systems-level modeling of cellular glycosylation reaction networks: O-linked glycan formation on natural selectin ligands. Bioinformatics (2008) 1.00

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases. J Inherit Metab Dis (2011) 0.99

Golgi glycosylation and human inherited diseases. Cold Spring Harb Perspect Biol (2011) 0.99

Systems glycobiology: biochemical reaction networks regulating glycan structure and function. Glycobiology (2011) 0.97

Human RFT1 deficiency leads to a disorder of N-linked glycosylation. Am J Hum Genet (2008) 0.96

A human embryonic kidney 293T cell line mutated at the Golgi alpha-mannosidase II locus. J Biol Chem (2009) 0.96

Metabolic manipulation of glycosylation disorders in humans and animal models. Semin Cell Dev Biol (2010) 0.96

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. J Inherit Metab Dis (2009) 0.95

Endopeptidase cleavage generates a functionally distinct isoform of C1q/tumor necrosis factor-related protein-12 (CTRP12) with an altered oligomeric state and signaling specificity. J Biol Chem (2012) 0.95

Bioinformatics and molecular modeling in glycobiology. Cell Mol Life Sci (2010) 0.95

Glycosylated synaptomatrix regulation of trans-synaptic signaling. Dev Neurobiol (2012) 0.95

Functional states of homooligomers: insights from the evolution of glycosyltransferases. J Mol Biol (2010) 0.94

Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation. EMBO J (2012) 0.94

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. Biochim Biophys Acta (2009) 0.92

Glycan analysis by reversible reaction to hydrazide beads and mass spectrometry. Anal Chem (2012) 0.92

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet (2012) 0.92

Sialic acids attached to O-glycans modulate voltage-gated potassium channel gating. J Biol Chem (2010) 0.90

RFT1 deficiency in three novel CDG patients. Hum Mutat (2009) 0.90

A novel fluorescent assay for T-synthase activity. Glycobiology (2010) 0.90

Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia. J Med Chem (2011) 0.89

Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid. J Biol Chem (2010) 0.88

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation. J Inherit Metab Dis (2011) 0.88

Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation. PLoS One (2010) 0.88

Human plasma protein N-glycosylation. Glycoconj J (2015) 0.88

Characterization of the post-translational modification of recombinant human BMP-15 mature protein. Protein Sci (2008) 0.87

Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging (2012) 0.86

Neurobiology of autism gene products: towards pathogenesis and drug targets. Psychopharmacology (Berl) (2014) 0.86

RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. J Inherit Metab Dis (2009) 0.85

Mutations in four glycosyl hydrolases reveal a highly coordinated pathway for rhodopsin biosynthesis and N-glycan trimming in Drosophila melanogaster. PLoS Genet (2014) 0.85

The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation process. PLoS One (2010) 0.84

COG5-CDG with a Mild Neurohepatic Presentation. JIMD Rep (2011) 0.83

Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci. Glycobiology (2009) 0.83

Engineering the pattern of protein glycosylation modulates the thermostability of a GH11 xylanase. J Biol Chem (2013) 0.82

Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis. J Lipid Res (2013) 0.82

AglH, a thermophilic UDP-N-acetylglucosamine-1-phosphate:dolichyl phosphate GlcNAc-1-phosphotransferase initiating protein N-glycosylation pathway in Sulfolobus acidocaldarius, is capable of complementing the eukaryal Alg7. Extremophiles (2016) 0.81

Congenital disorders of glycosylation--a challenging group of IEMs. J Inherit Metab Dis (2008) 0.81

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients. Orphanet J Rare Dis (2013) 0.81

Detection of the heterogeneous O-glycosylation profile of MT1-MMP expressed in cancer cells by a simple MALDI-MS method. PLoS One (2012) 0.80

A new case of ALG8 deficiency (CDG Ih). J Inherit Metab Dis (2009) 0.78

Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype. JIMD Rep (2011) 0.78

Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx. J Inherit Metab Dis (2008) 0.78

Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG. Glycobiology (2015) 0.77

Glycosylation of matrix metalloproteases and tissue inhibitors: present state, challenges and opportunities. Biochem J (2016) 0.77

Fibrotic response in fibroblasts from congenital disorders of glycosylation. J Cell Mol Med (2011) 0.77

Changes in fetal mannose and other carbohydrates induced by a maternal insulin infusion in pregnant sheep. J Anim Sci Biotechnol (2014) 0.76

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. Am J Hum Genet (2016) 0.75

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. J Inherit Metab Dis (2008) 0.75

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options. Clin Rheumatol (2010) 0.75

The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications. Autism Res Treat (2011) 0.75

Receptor-mediated selective impairment of insulin-like growth factor-1 activity in congenital disorders of glycosylation patients. Pediatr Res (2016) 0.75

Label-free analysis of o-glycosylation site-occupancy based on the signal intensity of glycopeptide/peptide ions. Mass Spectrom (Tokyo) (2012) 0.75

Variation of Human Salivary O-Glycome. PLoS One (2016) 0.75

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71

Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10

Legal uncertainty in the area of genetic diagnostic testing. Nat Biotechnol (2009) 2.00

Models for facilitating access to patents on genetic inventions. Nat Rev Genet (2006) 1.89

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat (2009) 1.84

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet (2007) 1.78

A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A (2006) 1.56

CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49

Patenting and licensing in genetic testing: ethical, legal, and social issues. Eur J Hum Genet (2008) 1.45

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet (2007) 1.40

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat (2005) 1.39

Patent pools and diagnostic testing. Trends Biotechnol (2006) 1.36

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation. Mol Genet Metab (2007) 1.33

Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. Glycobiology (2003) 1.32

Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet (2009) 1.32

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat (2005) 1.23

A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem (2002) 1.22

TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Mol Cell Biol (2006) 1.15

Congenital disorders of glycosylation: a review. Pediatr Res (2002) 1.15

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet (2007) 1.14

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet (2005) 1.11

Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr (2005) 1.10

Patenting genes. BMJ (2004) 1.08

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 1.07

Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law. Eur J Hum Genet (2011) 1.07

How Golgi glycosylation meets and needs trafficking: the case of the COG complex. Glycobiology (2010) 1.07

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A (2005) 1.05

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet (2002) 1.03

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells. Proc Natl Acad Sci U S A (2013) 1.02

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet (2007) 1.00

Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1. Glycobiology (2010) 1.00

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet A (2005) 1.00

Epilepsy as part of the phenotype associated with ATP1A2 mutations. Epilepsia (2007) 0.99

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis (2010) 0.98

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. J Mol Diagn (2012) 0.97

The EuroGentest Clinical Utility Gene Cards continued. Eur J Hum Genet (2013) 0.97

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. Glycobiology (2009) 0.97

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. Eur J Med Genet (2005) 0.95

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain (2014) 0.95

Analysing DNA patents in relation with diagnostic genetic testing. Eur J Hum Genet (2006) 0.95

Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories. Eur J Hum Genet (2008) 0.95

Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics. Eur J Hum Genet (2008) 0.94

A mammalian protein homologous to fructosamine-3-kinase is a ketosamine-3-kinase acting on psicosamines and ribulosamines but not on fructosamines. Diabetes (2003) 0.94

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. Hum Mol Genet (2008) 0.94

Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A. Genet Test (2003) 0.93

DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype. Am J Med Genet A (2012) 0.92

PREPL: a putative novel oligopeptidase propelled into the limelight. Biol Chem (2006) 0.91

A genetic predisposition score for muscular endophenotypes predicts the increase in aerobic power after training: the CAREGENE study. BMC Genet (2011) 0.91

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab (2007) 0.91

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr (2002) 0.91

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). Eur J Hum Genet (2002) 0.91

RFT1 deficiency in three novel CDG patients. Hum Mutat (2009) 0.90

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum Mol Genet (2002) 0.90

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. Hum Mol Genet (2013) 0.90

A clearing house for diagnostic testing: the solution to ensure access to and use of patented genetic inventions? Bull World Health Organ (2006) 0.88

Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. Clin Chem (2012) 0.87

COG5-CDG: expanding the clinical spectrum. Orphanet J Rare Dis (2012) 0.87

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum Mol Genet (2012) 0.86

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. Eur J Hum Genet (2003) 0.86

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat (2009) 0.86

Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. Glycobiology (2003) 0.86

Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation. Eur J Med Genet (2008) 0.86

The CAREGENE study: polymorphisms of the beta1-adrenoceptor gene and aerobic power in coronary artery disease. Eur Heart J (2006) 0.86

The fate and future of patents on human genes and genetic diagnostic methods. Nat Rev Genet (2012) 0.85

Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A (2012) 0.85

Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning. Clin Chem (2010) 0.84

Multi-system disorder syndromes associated with cystinuria type I. Curr Mol Med (2008) 0.83

Screening for OST deficiencies in unsolved CDG-I patients. Biochem Biophys Res Commun (2009) 0.83

Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I). Biochimie (2011) 0.83

A new mutation in COG7 extends the spectrum of COG subunit deficiencies. Eur J Med Genet (2009) 0.82

Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study. Neurobiol Aging (2013) 0.82

Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase. J Biol Chem (2008) 0.82

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. Am J Hum Genet (2008) 0.81

Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. Am J Med Genet A (2003) 0.81

ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings. Mol Genet Metab (2013) 0.80

Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia. Eur J Hum Genet (2011) 0.80

Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories. Hum Mutat (2005) 0.80

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Mol Genet Metab (2013) 0.80

Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD). Eur J Hum Genet (2002) 0.78

The CAREGENE study: genetic variants of the endothelium and aerobic power in patients with coronary artery disease. Acta Cardiol (2011) 0.78

Should we screen for FMR1 premutations in female subjects presenting with ataxia? Ann Neurol (2005) 0.78

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. Eur J Med Genet (2012) 0.78

Patent pools and clearinghouses in the life sciences. Trends Biotechnol (2011) 0.78

Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG). Chem Commun (Camb) (2013) 0.78

A new missense mutation in the CASR gene in familial interstitial lung disease with hypocalciuric hypercalcemia and defective granulocyte function. Am J Respir Crit Care Med (2008) 0.77

Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet (2016) 0.77

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. Hum Mutat (2012) 0.76

From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo. BMC Public Health (2014) 0.76

Analysis of microsatellite instability in gastric mucosa-associated lymphoid tissue lymphoma. Leuk Lymphoma (2012) 0.76

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. Eur J Hum Genet (2003) 0.76

EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletion. Genes Chromosomes Cancer (2013) 0.75

From glycosylation to glycosylation diseases. Biochim Biophys Acta (2009) 0.75

Post-zygotic origin of isochromosome 12p. Prenat Diagn (2004) 0.75