Citation Impact
Citing Papers
A Gene Network Regulating Lysosomal Biogenesis and Function
2009 StandoutScience
Single molecules of the bacterial actin MreB undergo directed treadmilling motion in Caulobacter crescentus
2006 StandoutNobel
Formylglycine-generating enzyme binds substrate directly at a mononuclear Cu(I) center to initiate O 2 activation
2019 StandoutNobel
Guidelines for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack
2014 Standout
De novo design of transmembrane β barrels
2021 StandoutScienceNobel
Visualization of the movement of single histidine kinase molecules in live Caulobacter cells
2004 StandoutNobel
Management of Stroke in Infants and Children
2008
Cholera Toxin B Accelerates Disease Progression in Lupus-Prone Mice by Promoting Lipid Raft Aggregation
2008
Membrane curvature regulates the spatial distribution of bulky glycoproteins
2022 StandoutNobel
Involvement of the Acid Sphingomyelinase Pathway in UVA-induced Apoptosis
2001
Function and Structure of a Prokaryotic Formylglycine-generating Enzyme
2008 StandoutNobel
Saposin-like proteins (SAPLIP) carry out diverse functions on a common backbone structure.
1995
Screening for lysosomal disorders
1994
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease
2016 Standout
Signals from the lysosome: a control centre for cellular clearance and energy metabolism
2013 Standout
Dynamic O-Glycosylation of Nuclear and Cytosolic Proteins
2001
Acid sphingomyelinase is involved in CEACAM receptor‐mediated phagocytosis of Neisseria gonorrhoeae
2000
Psychosis as a presentation of physical disease in adolescence: a case of Niemann–Pick disease, type C
1998
Saturation variant interpretation using CRISPR prime editing
2022
Role for ELOVL3 and Fatty Acid Chain Length in Development of Hair and Skin Function
2004 StandoutNobel
Niemann-Pick disease type C
2010 Standout
Sulforhodamine GM1-ganglioside: synthesis and physico-chemical properties
1994
Sphingoid base synthesis requirement for endocytosis in Saccharomyces cerevisiae
2000
Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells
1996
Multi-protein assemblies underlie the mesoscale organization of the plasma membrane
2014 StandoutNobel
Expression of cDNA encoding the human “protective protein≓ associated with lysosomal β-galactosidase and neuraminidase: Homology to yeast proteases
1988
Ferroptosis turns 10: Emerging mechanisms, physiological functions, and therapeutic applications
2022 Standout
Role of Ser-65 in the Activity of α-Galactosidase A: Characterization of a Point Mutation (S65T) Detected in a Patient with Fabry Disease
2000
Altered Trafficking and Processing ofGALCMutants Correlates with Globoid Cell Leukodystrophy Severity
2016
Ganglioside GM2 is substrate for a sialidase in MDCK cells
1998
Efflux-mediated heavy metal resistance in prokaryotes
2003 Standout
Cellular uptake of saposin (SAP) precursor and lysosomal delivery by the low density lipoprotein receptor-related protein (LRP)
1998
CD95 Signaling via Ceramide-rich Membrane Rafts
2001
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1
2003
The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases
2003
Heritable and non-heritable uncommon causes of stroke
2020
An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium
1991
Coordinated Transcription of Key Pathways in the Mouse by the Circadian Clock
2002 Standout
Ceramide Biosynthesis Is Required for the Formation of the Oligomeric H+-ATPase Pma1p in the Yeast Endoplasmic Reticulum
2002 StandoutNobel
Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease
2001 Standout
Pharmacologic chaperoning as a strategy to treat Gaucher disease
2007
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement
2006
Eater, a Transmembrane Protein Mediating Phagocytosis of Bacterial Pathogens in Drosophila
2005 StandoutNobel
Late Endosomal Cholesterol Accumulation Leads to Impaired Intra-Endosomal Trafficking
2007
Lysosomal storage disorders
2005
Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy
2001
Ebola virus entry requires the cholesterol transporter Niemann–Pick C1
2011 StandoutNature
Lysosomal Membrane Proteomics and Biogenesis of Lysosomes
2005
Visualisation of the kinetics of macrophage infiltration during experimental autoimmune encephalomyelitis by magnetic resonance imaging
2008
Ceramide-mediated clustering is required for CD95-DISC formation
2003
Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma
2003
Revealing the human mucinome
2022 StandoutNobel
Ceramide, membrane rafts and infections
2004
Ligation of Cell Surface Heparan Sulfate Proteoglycans by Antibody-Coated Beads Stimulates Phagocytic Uptake into Epithelial Cells: A Model for Cellular Invasion byNeisseria gonorrhoeae
1998
Raft ceramide in molecular medicine
2003
Systemic Lupus Erythematosus
2011 Standout
Phagocytosis and innate immunity
2002
Vectorial Budding of Vesicles by Asymmetrical Enzymatic Formation of Ceramide in Giant Liposomes
2000
Host defense against Pseudomonas aeruginosa requires ceramide-rich membrane rafts
2003
Glycosylation in health and disease
2019
A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies
2001
Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis
2021
Lysosomal disorders: From storage to cellular damage
2008
Reactive oxygen species have a causal role in multiple forms of insulin resistance
2006 StandoutNature
Compartmentalization of ceramide signaling: physical foundations and biological effects
2000
Evidence for the Formation of Symmetric and Asymmetric DLPC-DAPC Lipid Bilayer Domains
2013 Standout
Principles of lysosomal membrane degradation
2008
An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy
1995
Uptake and metabolism of exogenous glycosphingolipids by cultured cells
2001
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
1997
Results of a Nationwide Screening for Anderson-Fabry Disease among Dialysis Patients
2004
Multidrug permeases and subcellular cholesterol transport
2001
Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes
2005
History, genetic, and recent advances on Krabbe disease
2014
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
The transmembranous domain of CD40 determines CD40 partitioning into lipid rafts
2002
Activator proteins and topology of lysosomal sphingolipid catabolism
1992
Lysosomal storage diseases
1995
2021 Guideline for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack: A Guideline From the American Heart Association/American Stroke Association
2021 Standout
Alternative splicing of β-galactosidase mRNA generates the classic lysosomal enzyme and a β-galactosidase-related protein
1989
Sulfatase-activated fluorophores for rapid discrimination of mycobacterial species and strains
2013 StandoutNobel
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.
1995 StandoutNobel
A biomarker that identifies senescent human cells in culture and in aging skin in vivo.
1995 Standout
Co‐cultivation of Niemann‐Pick disease type C fibroblasts belonging to complementation groupsα andβ stimulates LDL‐derived cholesterol esterification
1996
Metabolic cross-talk allows labeling of O-linked β- N -acetylglucosamine-modified proteins via the N -acetylgalactosamine salvage pathway
2011 StandoutNobel
Sphingomyelinase Treatment Induces ATP-independent Endocytosis
1998
PRINCIPLES OF LYSOSOMAL MEMBRANE DIGESTION: Stimulation of Sphingolipid Degradation by Sphingolipid Activator Proteins and Anionic Lysosomal Lipids
2005
Nanozymes: Classification, Catalytic Mechanisms, Activity Regulation, and Applications
2019 Standout
Glycosphingolipid degradation and animal models of GM2‐gangliosidoses
1998
Endothelial cell dysfunction in globoid cell leukodystrophy
2016
Clinical course and treatment of vertebrobasilar dolichoectasia: a systematic review of the literature
2013
A Role for Sphingolipids in Producing the Common Features of Type 2 Diabetes, Metabolic Syndrome X, and Cushing’s Syndrome
2005
Peroxidation of polyunsaturated fatty acids by lipoxygenases drives ferroptosis
2016 Standout
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
1993
Ceramide Triggers Budding of Exosome Vesicles into Multivesicular Endosomes
2008 StandoutScience
Ynamides: A Modern Functional Group for the New Millennium
2010 Standout
Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor
2002 StandoutNobel
Signal transduction of stress via ceramide
1998
Aggregation-Induced Emission: Together We Shine, United We Soar!
2015 Standout
A chemical approach for identifying O -GlcNAc-modified proteins in cells
2003 StandoutNobel
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
SULFATASES AND HUMAN DISEASE
2005
Glycobiology: Toward Understanding the Function of Sugars
1996 Standout
Small molecule probes to quantify the functional fraction of a specific protein in a cell with minimal folding equilibrium shifts
2014 StandoutNobel
Ganglioside metabolism. Enzymology, Topology, and regulation.
1993
The Dendritic Cell Receptor for Endocytosis, Dec-205, Can Recycle and Enhance Antigen Presentation via Major Histocompatibility Complex Class II–Positive Lysosomal Compartments
2000 StandoutNobel
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy
2003
Magnetic Nanoparticles: Design and Characterization, Toxicity and Biocompatibility, Pharmaceutical and Biomedical Applications
2012 Standout
Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke
2009
Ceramide-Rich Membrane Rafts Mediate CD40 Clustering
2002
Guidelines for the Prevention of Stroke in Patients With Stroke or Transient Ischemic Attack
2010 Standout
Functions of Cell Surface Heparan Sulfate Proteoglycans
1999 Standout
Noncovalent Cell Surface Engineering: Incorporation of Bioactive Synthetic Glycopolymers into Cellular Membranes
2008 StandoutNobel
Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening
2004
Synthesis, transformations and biological activity of chloro enamines and ynamines derived from chloroalkenyl- and alkynyl-N-substituted purine and pyrimidine bases of nucleic acids
1994
New GM1 Ganglioside Derivatives for Selective Single and Double Labelling of the Natural Glycosphingolipid Skeleton
2009 StandoutNobel
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease)
1995
Observation of Topical Catalysis by Sphingomyelinase Coupled To Microspheres
2002
Very long chain fatty acids in higher animals—A review
1995
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Metabolic labeling enables selective photocrosslinking of O-GlcNAc-modified proteins to their binding partners
2012 StandoutNobel
Works of K. Harzer being referenced
Immunocytochemical localization of sphingolipid activator protein 2 (SAP-2) in normal and SAP-deficient fibroblasts.
1990
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.
1977
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study
2005
Quantified increases of cholesterol, total lipid and globotriaosylceramide in filipin-positive Niemann-Pick type C fibroblasts
2001
Niemann-Pick Disease Type A and B are Clinically but also Enzymatically Heterogeneous: Pitfall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the Mutation Q292 K
2003
Residual galactosylsphingosine (psychosine) β-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease
2002
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease
1997
Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi
1989
Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group
1998
Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases
1996
Sonographisch echodichte Milztumoren: Knotige Manifestation eines Morbus Niemann-Pick Typ C
2008
Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: Biochemical signs of combined sphingolipidoses
1989
Acidic Sphingomyelinase Mediates Entry of N. gonorrhoeae into Nonphagocytic Cells
1997
Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis
2013
Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector
2000
Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs
1993
Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity
1991
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease
1990
Sphingolipid Activator Protein D (sap-D) Stimulates the Lysosomal Degradation of Ceramide in Vivo
1994
Intracellular transport of acid ?-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)
1999
Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies
1987
Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop
2001
Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study
1991
Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders
1992
On the role of peripheral macrophages during active experimental allergic encephalomyelitis (EAE)
2001
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
1980
Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase
1992
Nucleoside, XIII. Synthese und Eigenschaften von Lumazin‐ und Isopterin‐glucosiden
1973
Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms
1983
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
2010
ENZYME ALTERATIONS AND LIPID STORAGE IN THREE VARIANTS OF TAY‐SACHS DISEASE
1971
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.
1992
Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria
1986
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
1991