Citation Impact
Citing Papers
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase
2003
Glycobiology: Progress, problems, and perspectives
2013
Screening for lysosomal disorders
1994
Signals from the lysosome: a control centre for cellular clearance and energy metabolism
2013 Standout
International Union of Pharmacology. XLIX. Nomenclature and Structure-Function Relationships of Transient Receptor Potential Channels
2005 StandoutNobel
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
2003 StandoutNature
Prevalence of Lysosomal Storage Disorders
1999 Standout
Therapeutic applications of compounds in the Magnolia family
2011 Standout
Biological roles of glycans
2016 Standout
Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysaccharidosis IIIC
2010
The Turnover of Cytoplasmic Triacylglycerols in Human Fibroblasts Involves Two Separate Acyl Chain Length-dependent Degradation Pathways
1995
Metabolic Delivery of Ketone Groups to Sialic Acid Residues
1998 StandoutNobel
Thematic review series: Adipocyte Biology. The perilipin family of structural lipid droplet proteins: stabilization of lipid droplets and control of lipolysis
2007 Standout
Catabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes
2016
Mobilization of sialidase from intracellular stores to the surface of human neutrophils and its role in stimulated adhesion responses of these cells.
1991
Functional molecular masses of vacuolar membrane H+‐ATPase from Saccharomyces cerevisiae as studied by radiation inactivation analysis
1989 StandoutNobel
Antifungal agents: An overview. Part II
1994
Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2)
2005
Mucolipin 1: endocytosis and cation channel—a review
2004
Transient Receptor Potential Cation Channels in Disease
2007 Standout
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients
1998
Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression
2019 StandoutNobel
Mucolipidosis Type IV
2001
Molecular Size Determination of Enzymes by Radiation Inactivation
1988
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.
1995 StandoutNobel
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
1982
The Hutchinson-Gilford progeria syndrome
1972
Applications of the Morris water maze in the study of learning and memory
2001 Standout
Magnolol-based bio-epoxy resin with acceptable glass transition temperature, processability and flame retardancy
2020 Standout
Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
1997
Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.
1996 StandoutNobel
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
1994
Glycosphingolipids in Cultured Human Skin Fibroblasts
1972
Current and Emerging Azole Antifungal Agents
1999 Standout
Similar content of phospholipids and gangliosides in normal and homozygous familial hypercholesterolemia fibroblasts.
1978 StandoutNobel
Purification of acid β-galactosidase and acid neuraminidase from bovine testis: Evidence for an enzyme complex
1982
Safety and Toxicology of Magnolol and Honokiol
2018 Standout
Genes and languages in Europe: an analysis of mitochondrial lineages.
1995 StandoutNobel
THE LDL RECEPTOR LOCUS AND THE GENETICS OF FAMILIAL HYPERCHOLESTEROLEMIA
1979 StandoutNobel
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.
1991
Identification and in Vitro Reconstitution of Lysosomal Neuraminidase from Human Placenta
1989
Accumulation of N-acetylneuraminic acid (sialic acid) in human fibroblasts cultured in the presence of N-acetylmannosamine
1985
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)
1981
Granules of the Human Neutrophilic Polymorphonuclear Leukocyte
1997 Standout
Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role ofPGC1andNRF1
2003 Standout
AN INTRODUCTION TO TRP CHANNELS
2005 Standout
Human placental neuraminidase
1985
Phenotypic diversity of human diseases resulting from allelic series.
1973
An approach to correlate tandem mass spectral data of peptides with amino acid sequences in a protein database
1994 Standout
Neuropathological findings of an autopsy case of adult ?-galactosidase and neuraminidase deficiency
1983
TRP Channels
2007 Standout
Copurification and separation of β-galactosidase and sialidase from porcine testis
1987
The neurogenetics of mucolipidosis type IV
2002
Works of P. Durand being referenced
Lymphoid cell lines as a model system for the study of Wolman's disease: Enzymatic, metabolic and ultrastructural investigations
1985
[Oxidative stress and human disease. Current knowledge and perspectives for prevention].
2001
Sanfilippo type D disease: Clinical findings in two patients with a new variant of mucopolysaccharidosis III
1982
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency
1982
Sialidosis (mucolipidosis I).
1977
Two genetically different MU-NANA neuraminidases in human leucocytes
1983
GRISEOFULVIN AND PORPHYRIN METABOLISM
1963
Fucosidosis
1969
[Study of progeria: clinical and pathogenetic considerations].
1953
Studies on the sialidoses. Properties of human leucocyte neuraminidases
1980
Genetic Errors of Glycoprotein Metabolism
1982
A NEW MUCOPOLYSACCHARIDE LIPIDSTORAGE DISEASE?
1966