Citation Impact
Citing Papers
Probing mucin-type O-linked glycosylation in living animals
2006 StandoutNobel
Genome-wide CRISPR screens reveal a specific ligand for the glycan-binding immune checkpoint receptor Siglec-7
2021 StandoutNobel
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
2007 StandoutScience
Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification
2003 Science
A metabolic labeling approach toward proteomic analysis of mucin-type O-linked glycosylation
2003 StandoutNobel
Systematic analysis of dynamic miRNA-target interactions during C. elegans development
2009 StandoutNobel
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells
2013
Copper-free click chemistry in living animals
2010 StandoutNobel
Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia
2017
The yeast protein Gdt1p transports Mn2+ ions and thereby regulates manganese homeostasis in the Golgi
2018
Yeast Gdt1 is a Golgi-localized calcium transporter required for stress-induced calcium signaling and protein glycosylation
2016
Discovery and functional interrogation of SARS-CoV-2 RNA-host protein interactions
2021 StandoutNobel
Bacterial glycosyltransferase-mediated cell-surface chemoenzymatic glycan modification
2019 StandoutNobel
Bump-and-Hole Engineering Identifies Specific Substrates of Glycosyltransferases in Living Cells
2020 StandoutNobel
Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge
2013
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
1998
From glycosylation disorders back to glycosylation: What have we learned?
2008
Physical Principles of Membrane Shape Regulation by the Glycocalyx
2019 StandoutNobel
Congenital disorders of glycosylation: a booming chapter of pediatrics
2004
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis
2016
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
2004
Congenital Disorders of Glycosylation: A Review
2002
Investigating the function of Gdt1p in yeast Golgi glycosylation
2017
Chemical Technologies for Probing Glycans
2006 StandoutNobel
Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia.
1994 StandoutNobel
Diseases of glycosylation beyond classical congenital disorders of glycosylation
2012
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
2014
Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
2007 StandoutNobel
Glycosylation diseases: Quo vadis?
2008
An Inner Membrane Enzyme in Salmonellaand Escherichia coli That Transfers 4-Amino-4-deoxy-l-arabinose to Lipid A
2001
Childhood obesity: public-health crisis, common sense cure
2002 Standout
Glycosylation in Cellular Mechanisms of Health and Disease
2006 Standout
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
2009
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency
2006
The Story of Rett Syndrome: From Clinic to Neurobiology
2007
Dyskeratosis Congenita (DC) Registry: identification of new features of DC
1998
Altered glycan structures: the molecular basis of congenital disorders of glycosylation
2005
Carbohydrate deficient glycoprotein (CDG) syndrome type I.
1997
How Golgi glycosylation meets and needs trafficking: the case of the COG complex
2010
Genetic defects in the human glycome
2006
Biochemical, structural, genetic, physiological, and pathophysiological features of lipocalin-type prostaglandin D synthase
2000
Coiled Coils Direct Assembly of a Cold-Activated TRP Channel
2006 StandoutNobel
Research Perspectives in Inherited Lymphatic Disease
2002
Dissecting muscle and neuronal disorders in a Drosophila model of muscular dystrophy
2007 StandoutNobel
Lymphangiogenesis in development and human disease
2005 StandoutNature
Biological roles of glycans
2016 Standout
Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging
2006 StandoutNobel
Short Telomeres, even in the Presence of Telomerase, Limit Tissue Renewal Capacity
2005 StandoutNobel
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
2016 Standout
The Rise and Fall of the Chemoattractant Receptor GPR33
2005 StandoutNobel
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis
2001
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Human disorders in N-glycosylation and animal models
2002
Strain‐Promoted Alkyne–Azide Cycloadditions (SPAAC) Reveal New Features of Glycoconjugate Biosynthesis
2011
Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)
2000
Drosophila, the golden bug, emerges as a tool for human genetics
2005
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene
1999
The clinical impact of glycobiology: targeting selectins, Siglecs and mammalian glycans
2021 StandoutNobel
Oligosaccharyl transferase: gatekeeper to the secretory pathway
2002
The joys of HexNAc. The synthesis and function of N-andO-glycan branches
2000
Dyskeratosis congenita in all its forms
2000
Congenital disorders of glycosylation: genetic model systems lead the way
2001
Chemical Approaches To Perturb, Profile, and Perceive Glycans
2009 StandoutNobel
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
2000
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis
2016
Genome-Scale Identification of SARS-CoV-2 and Pan-coronavirus Host Factor Networks
2020 StandoutNobel
Automated glycopeptide analysis--review of current state and future directions
2012
The Human Obesity Gene Map: The 2001 Update
2002
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies
2003
Environmental Enrichment Reduces Aβ Levels and Amyloid Deposition in Transgenic Mice
2005 Standout
Vertebrate pseudogenes
2000
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
2000
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)
1999
Congenital disorders of glycosylation
2010
The Human Obesity Gene Map: The 2003 Update
2004
A FRET‐Based Fluorogenic Phosphine for Live‐Cell Imaging with the Staudinger Ligation
2008 StandoutNobel
Protein Tyrosine Phosphatases in the Human Genome
2004 Standout
Glycocalyx Engineering with a Recycling Glycopolymer that Increases Cell Survival In Vivo
2015 StandoutNobel
TGFβ Signaling in Growth Control, Cancer, and Heritable Disorders
2000 Standout
Metabolic selection of glycosylation defects in human cells
2001 StandoutNobel
Balancing N-linked glycosylation to avoid disease
2001
Comparative glycoproteomics: approaches and applications
2008
Reactivity of Biarylazacyclooctynones in Copper-Free Click Chemistry
2012 StandoutNobel
Dyskeratosis congenita: its link to telomerase and aplastic anaemia
2003
Experimental and Computational Analyses of the Energetic Basis for Dual Recognition of Immunity Proteins by Colicin Endonucleases
2008 StandoutNobel
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
2001
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects
2017
Amyotrophic Lateral Sclerosis
2001 Standout
Synthesis of Heterobifunctional Protein Fusions Using Copper‐Free Click Chemistry and the Aldehyde Tag
2012 StandoutNobel
Role of the conserved oligomeric Golgi (COG) complex in protein glycosylation
2008
Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein
2000
Mass spectrometric analysis of N- and O-glycosylation of tissues and cells
2006
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
PMM2 intronic branch-site mutations in CDG-Ia
2005
The immunoglobulin constant region contributes to affinity and specificity
2008
Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction
2015
A Genetic Approach to Mammalian Glycan Function
2003
Metabolic cross-talk allows labeling of O-linked β- N -acetylglucosamine-modified proteins via the N -acetylgalactosamine salvage pathway
2011 StandoutNobel
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism
2000
In Vivo Imaging of Membrane-Associated Glycans in Developing Zebrafish
2008 StandoutScienceNobel
Obesity and Cardiovascular Disease: Pathophysiology, Evaluation, and Effect of Weight Loss
2005 Standout
From Mechanism to Mouse: A Tale of Two Bioorthogonal Reactions
2011 StandoutNobel
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
2000
Molecular Basis of Genetic Heterogeneity: Role of the Clinical Neurologist
1998
Genome‐wide analysis of the unfolded protein response in fibroblasts from congenital disorders of glycosylation type‐I patients
2004
Update and perspectives on congenital disorders of glycosylation
2001
Protein Glycosylation and Diseases: Blood and Urinary Oligosaccharides as Markers for Diagnosis and Therapeutic Monitoring
2000
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165
2012
A genomic perspective on protein tyrosine phosphatases: gene structure, pseudogenes, and genetic disease linkage
2004
Maintaining order: COG complex controls Golgi trafficking, processing, and sorting
2019
Involvement of thapsigargin– and cyclopiazonic acid–sensitive pumps in the rescue of TMEM165‐associated glycosylation defects by Mn 2+
2018
Manganese-induced turnover of TMEM165
2017
Congenital Disorders of Glycosylation
2017
Oligosaccharyltransferase: the central enzyme of N‐linked protein glycosylation
2011
Lipopolysaccharide Endotoxins
2002 Standout
Imaging the glycome
2008 StandoutNobel
Haploinsufficiency of t e lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
2005 StandoutNobel
Investigating the functional link between TMEM165 and SPCA1
2019 StandoutNobel
Agalactosylated IgG antibodies depend on cellular Fc receptors forin vivoactivity
2007
Smad3-Smad4 and AP-1 Complexes Synergize in Transcriptional Activation of the c-Jun Promoter by Transforming Growth Factor β
1999
Bone Marrow Failure Syndromes
1999
H+ and Pi Byproducts of Glycosylation Affect Ca2+ Homeostasis and Are Retrieved from the Golgi Complex by Homologs of TMEM165 and XPR1
2017
COPII and COPI Traffic at the ER-Golgi Interface
2011
Chemical Glycoproteomics
2016 StandoutNobel
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family
2007
Congenital disorders of glycosylation: new defects and still counting
2014
Works of Els Schollen being referenced
Successful treatment with oral mannose of a patient with congenital disorder of glycosylation Ib (CDG Ib)
2000
Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A
1998
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
2000
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene
1998
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients
2007
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)
2005
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
2000
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
2012
Prenatal diagnosis in CDG1 families: beware of heterogeneity
1998
Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings
2003
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
2000
Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)
1996
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)
2000
Rett syndrome in females with CTS hot spot deletions: A disorder profile
2004
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
1997
The prenatal diagnosis of congenital disorders of glycosylation (CDG)
2004
Effect of mutations found in carbohydrate‐deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2
1999
Clinical and molecular genetic features of congenital spinal muscular atrophy
1996
Phosphomannomutase Deficiency: The Molecular Basis of the Classical Jaeken Syndrome (CDGS Type Ia)
1999
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
2003
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
1998
PMM (PMM1), the Human Homologue ofSEC53or Yeast Phosphomannomutase, Is Localized on Chromosome 22q13
1997
High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)
2001
Gross rearrangements in theMECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome
2003
Screening for OST deficiencies in unsolved CDG-I patients
2009
Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations
2008
A Regulatory Element in the 5′UTR Directs Cell-Specific Expression of the Mouse α4 Gene
1995
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)
2002
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
2006
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
2003
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
1997
CDG‐IL: An infant with a novel mutation in theALG9gene and additional phenotypic features
2005
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes
1999
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
2000
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes
1999
Congenital Disorders of Glycosylation (CDG): Update and Perspectives
2006
Congenital disorder of glycosylation (CDG) type Ie. A new patient
2004