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The cell biology of lysosomal storage disorders
TLDR
The biochemistry of lysosomal storage disorders is summarized and downstream cellular pathways that are potentially affected in these disorders are discussed and that might help to delineate their pathological mechanisms. Expand
Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system.
TLDR
The production of a recombinant human GCD in a carrot cell suspension culture shows a level of biological activity similar to that of Cerezyme produced in CHO cells, as well as a highly homologous high-resolution three-dimensional structure, determined by X-ray crystallography, indicating the potential safety of prGCD. Expand
A dynamic interface between vacuoles and mitochondria in yeast.
TLDR
Critically, it is shown that mitochondria are dependent on having one of two contact sites, ERMES or vCLAMP, and the absence of one causes expansion of the other, and elimination of both is lethal. Expand
The complex life of simple sphingolipids
TLDR
This work outlines exciting progress in the biochemistry and cell biology of sphingolipids and focuses on their functional diversity, which should set the conceptual and experimental framework that will eventually lead to a fully integrated and comprehensive model of the functions of specific sphingosine‐1‐phosphate in regulating defined aspects of cell physiology. Expand
Characterization of Ceramide Synthase 2
TLDR
Insight is provided into the biochemical basis for the ceramide N-acyl chain composition of cells, and a novel and potentially important interplay between two bioactive sphingolipids that could be relevant to the regulation of sphingosine 1-phosphate metabolism and the opposing functions that these lipids play in signaling pathways are revealed. Expand
X‐ray structure of human acid‐β‐glucosidase, the defective enzyme in Gaucher disease
TLDR
The structure provides the possibility of engineering improved GlcCerase for enzyme‐replacement therapy, and for designing structure‐based drugs aimed at restoring the activity of defective Glc Cerase. Expand
When Do Lasses (Longevity Assurance Genes) Become CerS (Ceramide Synthases)?
TLDR
A recently discovered family of mammalian ceramide synthase (CerS) genes and emerging evidence that specific ceramides containing distinct fatty acids play important roles in cell growth and apoptosis are discussed. Expand
The ins and outs of sphingolipid synthesis.
TLDR
Progress in the identification and characterization of the enzymes, the transport of ceramide from the endoplasmic reticulum to the Golgi apparatus, and how regulating the synthesis of sphingolipids might impact upon their functions are summarized. Expand
Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases*
TLDR
How pathogenic cascades impact upon LSD pathology are reviewed and how intervention in the pathways may lead to novel therapeutic approaches is suggested. Expand
Sphingomyelin synthesis in rat liver occurs predominantly at the cis and medial cisternae of the Golgi apparatus.
TLDR
It is concluded that sphingomyelin synthesis in rat liver occurs predominantly in the cis and medial cisternae of the Golgi apparatus and not at the plasma membrane or endoplasmic reticulum as has been previously suggested. Expand
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