Published in Clin Chem on February 23, 2006
In vivo imaging of membrane-associated glycans in developing zebrafish. Science (2008) 5.45
Vertebrate protein glycosylation: diversity, synthesis and function. Nat Rev Mol Cell Biol (2012) 2.83
Structure-guided identification of a new catalytic motif of oligosaccharyltransferase. EMBO J (2007) 1.76
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. J Invest Dermatol (2009) 1.51
Glycosylation diseases: quo vadis? Biochim Biophys Acta (2008) 1.30
Combining results from lectin affinity chromatography and glycocapture approaches substantially improves the coverage of the glycoproteome. Mol Cell Proteomics (2008) 1.26
Metabolic cutis laxa syndromes. J Inherit Metab Dis (2011) 1.25
Premelanosome amyloid-like fibrils are composed of only golgi-processed forms of Pmel17 that have been proteolytically processed in endosomes. J Biol Chem (2007) 1.17
Non-human primate fetal kidney transcriptome analysis indicates mammalian target of rapamycin (mTOR) is a central nutrient-responsive pathway. J Physiol (2006) 1.15
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta (2008) 1.10
The congenital muscular dystrophies: recent advances and molecular insights. Pediatr Dev Pathol (2006) 1.09
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet A (2013) 1.07
TOSO, the Fcmicro receptor, is highly expressed on chronic lymphocytic leukemia B cells, internalizes upon IgM binding, shuttles to the lysosome, and is downregulated in response to TLR activation. J Immunol (2011) 1.07
Glycoproteomic characterization of recombinant mouse α-dystroglycan. Glycobiology (2012) 1.04
Glycosylated synaptomatrix regulation of trans-synaptic signaling. Dev Neurobiol (2012) 0.95
Haploinsufficiency of C2GnT-I glycosyltransferase renders T lymphoma cells resistant to cell death. Blood (2006) 0.93
Engineering of N. benthamiana L. plants for production of N-acetylgalactosamine-glycosylated proteins--towards development of a plant-based platform for production of protein therapeutics with mucin type O-glycosylation. BMC Biotechnol (2010) 0.90
A novel xylosylphosphotransferase activity discovered in Cryptococcus neoformans. J Biol Chem (2009) 0.88
Mass spectrometry-based identification of the tumor antigen UN1 as the transmembrane CD43 sialoglycoprotein. Mol Cell Proteomics (2011) 0.88
Mass spectrometry of glycans. Biochemistry (Mosc) (2013) 0.87
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev (2013) 0.86
A xylosylphosphotransferase of Cryptococcus neoformans acts in protein O-glycan synthesis. J Biol Chem (2011) 0.84
Solid-phase synthesis of a pentavalent GalNAc-containing glycopeptide (Tn antigen) representing the nephropathy-associated IgA hinge region. Carbohydr Res (2010) 0.82
Antenatal manifestations of inborn errors of metabolism: biological diagnosis. J Inherit Metab Dis (2016) 0.81
Site-specific O-Glycosylation Analysis of Human Blood Plasma Proteins. Mol Cell Proteomics (2015) 0.80
Characterization of cancer associated mucin type O-glycans using the exchange sialylation properties of mammalian sialyltransferase ST3Gal-II. J Proteome Res (2012) 0.79
Insights into glycan biosynthesis in chemically-induced hepatocellular carcinoma in rats: A glycomic analysis. World J Gastroenterol (2015) 0.78
Mammalian sialyltransferase ST3Gal-II: its exchange sialylation catalytic properties allow labeling of sialyl residues in mucin-type sialylated glycoproteins and specific gangliosides. Biochemistry (2011) 0.78
High xylosyltransferase activity in children and during mineralization of osteoblast-like SAOS-2 cells. Glycoconj J (2008) 0.77
N-glycoprotein macroheterogeneity: biological implications and proteomic characterization. Glycoconj J (2015) 0.77
Classification of EA1-box proteins and new insights into their role during reproduction in grasses. Plant Reprod (2015) 0.76
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation. Mol Genet Metab Rep (2016) 0.75
Gene Expression in Mouse Thyrotrope Adenoma: Transcription Elongation Factor Stimulates Proliferation. Endocrinology (2016) 0.75
Myeloid C-Type Lectin Receptors in Viral Recognition and Antiviral Immunity. Viruses (2017) 0.75
Effects of Glycosylation on the Enzymatic Activity and Mechanisms of Proteases. Int J Mol Sci (2016) 0.75
Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings. J Inherit Metab Dis (2016) 0.75
What role do mucins have in the development of laryngeal squamous cell carcinoma? A systematic review. Eur Arch Otorhinolaryngol (2011) 0.75
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet (2006) 3.17
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
Readily accessible bicyclononynes for bioorthogonal labeling and three-dimensional imaging of living cells. Angew Chem Int Ed Engl (2010) 2.36
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain (2010) 2.21
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science (2013) 1.91
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet (2012) 1.90
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet (2009) 1.73
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet (2004) 1.72
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet (2012) 1.64
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol (2012) 1.62
Retracted In vivo degradation of heparan sulfates in the glomerular basement membrane does not result in proteinuria. J Am Soc Nephrol (2007) 1.57
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol (2003) 1.54
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.50
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet (2012) 1.49
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet (2011) 1.36
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet (2013) 1.36
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem (2003) 1.34
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry (2013) 1.31
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr (2006) 1.29
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem (2006) 1.29
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain (2007) 1.27
Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis (2014) 1.26
Metabolic cutis laxa syndromes. J Inherit Metab Dis (2011) 1.25
Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet (2007) 1.20
Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy. Clin Chem (2006) 1.20
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis (2010) 1.19
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.19
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis (2013) 1.18
How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis (2011) 1.18
In vivo quantitative near-infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise. Clin Physiol Funct Imaging (2002) 1.17
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol (2010) 1.16
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 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
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis (2013) 1.14
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat (2008) 1.14
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain (2008) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim Biophys Acta (2009) 1.10
Maternal myo-inositol, glucose, and zinc status is associated with the risk of offspring with spina bifida. Am J Obstet Gynecol (2003) 1.09
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. Cell Metab (2011) 1.09
Protein complexes in the archaeon Methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometry. Mol Cell Proteomics (2005) 1.09
The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis (2010) 1.08
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet (2004) 1.08
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat (2006) 1.07
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am J Med Genet A (2005) 1.07
Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann Clin Biochem (2003) 1.07
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. J Hepatol (2009) 1.06
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem (2011) 1.05
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. Hum Mutat (2008) 1.04
Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice. PLoS One (2012) 1.03
O-acetylation of cryptococcal capsular glucuronoxylomannan is essential for interference with neutrophil migration. J Immunol (2004) 1.03
Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A (2013) 1.01
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. Eur J Hum Genet (2009) 1.01
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed (2006) 1.01