Hans Galjaard

TL;DR: A fragile X site-induced breakpoint cluster region that exhibits length variation in fragile X chromosomes is identified and localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.

TL;DR: It is proposed that the combined beta-galactosidase/neuraminidase deficiency is caused by a defective 32,000-dalton glycoprotein which is normally required to protectbeta-galactsidase and neuraminidases against excessive intralysosomal degradation and to give these enzymes their full hydrolytic activity.

TL;DR: The nature and function of the protein encoded by the FMR-1 gene is investigated using polyclonal antibodies raised against the predicted amino-acid sequences and four different protein products, possibly resulting from alternative splicing, have been identified by immunoblotting in lymphoblastoid cell lines of healthy individuals.

TL;DR: A new gene, SLC17A5 is described, encoding a protein (sialin) with a predicted transport function that belongs to a family of anion/cation symporters (ACS), and observations suggest that mutations in SLC 17A5 are the primary cause of lysosomal sialic acid storage diseases.

TL;DR: Investigation of 24 different lysosomal storage diseases shows that marked elevation of chitotriosidase activity in plasma appears to be specific for Gaucher disease, and suggests that elevated levels in plasma from patients with unexplained diseases may be indicative for a lysOSomal disorder.