Citation Impact
Citing Papers
You say lipofuscin, we say ceroid: Defining autofluorescent storage material
2006
Latrophilins Function as Heterophilic Cell-adhesion Molecules by Binding to Teneurins
2013 StandoutNobel
Lysosomes in iron metabolism, ageing and apoptosis
2008
Gene activities that mediate increased life span of C. elegans insulin-like signaling mutants
2007 StandoutNobel
Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases
2010
Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy
2007
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease
2016 Standout
Autophagy, organelles and ageing
2007
Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease
1999
Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases
2009
Neurodegenerative lysosomal disorders: A continuum from development to late age
2008
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
The role of autophagy in neurodegenerative disease
2013 Standout
The rediscovery of uromodulin (Tamm–Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease
2011
TGF-β signaling in tumor suppression and cancer progression
2001 Standout
Biocompatibility of biodegradable semiconducting melanin films for nerve tissue engineering
2009
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
Genome-Wide Association Studies in Nephrology Research
2010
Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice.
1995
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
Neurotransmitter Release: The Last Millisecond in the Life of a Synaptic Vesicle
2013 StandoutNobel
Autophagy Is Disrupted in a Knock-in Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
2006
Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders
2017
Principles of bioactive lipid signalling: lessons from sphingolipids
2008 Standout
Lipofuscin: mechanisms of age-related accumulation and influence on cell function12 1Guest Editor: Rajindar S. Sohal 2This article is part of a series of reviews on “Oxidative Stress and Aging.” The full list of papers may be found on the homepage of the journal.
2002
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1
2003
An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium
1991
Endogenous and synthetic neurosteroids in treatment of Niemann–Pick Type C disease
2007
Neuromelanin in human dopamine neurons: Comparison with peripheral melanins and relevance to Parkinson's disease
2005
The Catalytic Center of Glucose-6-phosphatase
2002
Fabry disease: Immunocytochemical characterization of neuronal involvement
1992
Autophagy: Renovation of Cells and Tissues
2011 Standout
Enzyme Replacement Therapy in Fabry Disease
2001 Standout
Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease
2001 Standout
Chronic kidney disease
2011 Standout
Titration of Syntaxin1 in Mammalian Synapses Reveals Multiple Roles in Vesicle Docking, Priming, and Release Probability
2013 StandoutNobel
Lysosomal storage disorders
2005
Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy
2001
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
2004
Aging as a catabolic malfunction
2004
Autophagy in the Pathogenesis of Disease
2008 Standout
Lipofuscin and lipofuscin-like substances
1987
Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma
2003
Establishment of mononuclear phagocyte cell lines
1994
Defective Endoplasmic Reticulum-resident Membrane Protein CLN6 Affects Lysosomal Degradation of Endocytosed Arylsulfatase A
2004
CSF-1R inhibition alters macrophage polarization and blocks glioma progression
2013 Standout
Understanding the Odd Science of Aging
2005 Standout
A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies
2001
Membrane lipids: where they are and how they behave
2008 Standout
The comparative biology of neuromelanin and lipofuscin in the human brain
2008
Hsp70.1 and related lysosomal factors for necrotic neuronal death
2011
Autophagy, ageing and apoptosis: The role of oxidative stress and lysosomal iron
2007
Activation of Acid Sphingomyelinase by Protein Kinase Cδ-mediated Phosphorylation
2007
Molecular mechanisms of necroptosis: an ordered cellular explosion
2010 Standout
Lipofuscin
2007
Hypopigmenting agents: an updated review on biological, chemical and clinical aspects
2006
Current challenges in understanding melanogenesis: bridging chemistry, biological control, morphology, and function
2009
Bcl-xL Blocks Transforming Growth Factor-β1-induced Apoptosis by Inhibiting Cytochrome c Release and Not by Directly Antagonizing Apaf-1-dependent Caspase Activation in Prostate Epithelial Cells
2001
Sensors and regulators of intracellular pH
2009 Standout
Batten's disease: Clues to neuronal protein catabolism in lysosomes
2000
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Systematic Mutagenesis of α-Synuclein Reveals Distinct Sequence Requirements for Physiological and Pathological Activities
2012 StandoutNobel
The physical and chemical properties of eumelanin
2006
Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis
2011
An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy
1995
Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease Evidence for a disease specific abnormality of the myocardial interstitium
2003
Immortalization of growth factor-dependent mouse splenic macrophages derived from cloned progenitors
1991
Results of a Nationwide Screening for Anderson-Fabry Disease among Dialysis Patients
2004
Polydopamine—a nature-inspired polymer coating for biomedical science
2011
Identification of CSPα Clients Reveals a Role in Dynamin 1 Regulation
2012
Asymmetric Multicomponent Reactions (AMCRs): The New Frontier
2005 Standout
Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes
2005
Hepatic Stellate Cells: Protean, Multifunctional, and Enigmatic Cells of the Liver
2008 Standout
Chemistry and biochemistry of 4-hydroxynonenal, malonaldehyde and related aldehydes
1991 Standout
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
CSPα knockout causes neurodegeneration by impairing SNAP‐25 function
2011 StandoutNobel
Mitochondrial damage and intralysosomal degradation in cellular aging
2006
Redox Activity Within the Lysosomal Compartment: Implications for Aging and Apoptosis
2009
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.
1995 StandoutNobel
Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy
2002
PRINCIPLES OF LYSOSOMAL MEMBRANE DIGESTION: Stimulation of Sphingolipid Degradation by Sphingolipid Activator Proteins and Anionic Lysosomal Lipids
2005
Chronic Kidney Disease Diagnosis and Management
2019 Standout
Nanozymes: Classification, Catalytic Mechanisms, Activity Regulation, and Applications
2019 Standout
Endothelial cell dysfunction in globoid cell leukodystrophy
2016
The Free Radical Theory of Aging Matures
1998 Standout
Copper Active Sites in Biology
2014 Standout
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
1993
The Bruchpilot cytomatrix determines the size of the readily releasable pool of synaptic vesicles
2013 StandoutNobel
Lysosomal activity regulatesCaenorhabditis elegansmitochondrial dynamics through vitamin B12 metabolism
2020 StandoutNobel
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
Lysosomal cathepsin D mediates endogenous mucin glycodomain catabolism in mammals
2022 StandoutNobel
Degradable Controlled-Release Polymers and Polymeric Nanoparticles: Mechanisms of Controlling Drug Release
2016 Standout
Aggregation-Induced Emission: Together We Shine, United We Soar!
2015 Standout
Fluorescence Lifetime Measurements and Biological Imaging
2010 Standout
Proteolytic cleavage product of 30-kDa adipocyte complement-related protein increases fatty acid oxidation in muscle and causes weight loss in mice
2001 Standout
Review: Mitochondrial medicine--cardiomyopathy caused by defective oxidative phosphorylation.
2003
Genetic identification of HSD-1, a conserved steroidogenic enzyme that directs larval development inCaenorhabditis elegans
2008 StandoutNobel
Polydopamine and Its Derivative Materials: Synthesis and Promising Applications in Energy, Environmental, and Biomedical Fields
2014 Standout
Fluorescent Sensors for Measuring Metal Ions in Living Systems
2014 Standout
Proteasome Inhibition Alleviates SNARE-Dependent Neurodegeneration
2012 StandoutNobel
The Chemistry and Biochemistry of Vanadium and the Biological Activities Exerted by Vanadium Compounds
2004 Standout
Sphingolipide – ihre Stoffwechselwege und die Pathobiochemie neurodegenerativer Erkrankungen
1999
The parasinusoidal cells of the liver: A historical account
1986
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy
2003
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet
2011 StandoutNobel
Selective response of gamma delta T-cell hybridomas to orthomyxovirus-infected cells
1996 StandoutNobel
Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.
1994
Autophagy as a Regulated Pathway of Cellular Degradation
2000 StandoutScience
The Membrane Fusion Enigma: SNAREs, Sec1/Munc18 Proteins, and Their Accomplices—Guilty as Charged?
2012 StandoutNobel
An Alternative Splicing Variant in Clcn7–/– Mice Prevents Osteopetrosis but Not Neural and Retinal Degeneration
2010
Neuronal pigmented autophagic vacuoles: lipofuscin, neuromelanin, and ceroid as macroautophagic responses during aging and disease
2008
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
2006
Works of M. Elleder being referenced
[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].
1999
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
2009
Niemann-Pick disease
1989
Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: a Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein Thioesterase 1 Deficiency
2003
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer
2000
Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann‐Pick Type A and B Patients
2003
Blood group B glycosphingolipids in α-galactosidase deficiency (Fabry disease): influence of secretor status
1997
Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group
2001
Tissue culture loading test with storage granules from animal models of neuronal ceroid‐lipofuscinosis (Batten disease): Testing their lysosomal degradability by normal and Batten cells
1995
Sequelae of storage in Fabry disease ‐ pathology and comparison with other lysosomal storage diseases
2003
Melanosome Degradation: Fact or Fiction
2003
Autofluorescence of Melanins Induced by Ultraviolet Radiation and Near Ultraviolet Light. A Histochemical and Biochemical Study
2001
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease
1990
Deposition of lipopigment — a new feature of human splenic sinus endothelium (SSE)
1990
Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders
1997
Primary extracellular ceroid type lipopigment. A histochemical and ultrastructural study
1991
Proteomic analysis of hepatic iron overload in mice suggests dysregulation of urea cycle, impairment of fatty acid oxidation, and changes in the methylation cycle
2007
Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi
1987
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population
2005
New insights in cardiac structural changes in patients with Fabry’s disease
2000
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
2006
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
2011
Niemann-Pick disease type C
1985
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5
2000
Prenatal Diagnosis of GM2 Gangliosidosis with High Residual Hexosaminidase A Activity (Variant B1; Pseudo AB Variant)
1985
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
2008
Cardiac manifestations in Fabry disease
2001
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
2010
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
2010
Ito cells in lysosomal storage disorders
1984
Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues
2003
Culture of macrophage cell lines from normal mouse bone marrow
1982 Nature
A histochemical and ultrastructural study of stored material in neuronal ceroid lipofuscinosis
1978
So-called neuronal ceroid-lipofuscinosis
1977