Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confi...

Over the past decades, tremendous progress has been made in the field of Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the colossal achievements took place during the course of the sixty-year tenure of Dr. Roscoe Brady at the National Institutes of Health. These include the recognition of the enzymatic defect involved, the isolation and characteri...

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. pISSN 1011-8934 eISSN 1598-6357 http://dx.doi.org/10.3346/jkms.2015.30.9.1373 • J Korean Med...

Absruact. An 8-month-old Sydney Silky dog that was ataxic and hyperkinetic was found to have a neurovisceral storage disease. Typical Gaucher cells were seen in the liver, lymph nodes and cerebellum, but not in the spleen. Ultrastructurally, the storage bodies in Gaucher cells contained tubular structures, and many neurones contained laminated cytosomes, accumulations of a ‘wispy’ material and ...

Gaucher disease is caused by mutations of the GBA gene that encodes the lysosomal enzyme glucocerebrosidase (GCase). GBA mutations often result in protein misfolding and premature degradation, but usually exert less effect on catalytic activity. In this study, we identified the molecular mechanism by which histone deacetylase inhibitors increase the quantity and activity of GCase. Specifically,...

BACKGROUND The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma. METHODOLOGY We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS...

BACKGROUND The molecular basis of Parkinson's disease in South African population groups remains elusive. To date, substitutions in the GBA gene are the most common large-effect genetic risk factor for Parkinson's disease. The primary objective of this study was to determine the prevalence of GBA substitutions in South Africans with idiopathic Parkinson's disease. METHODS Participants were re...

Gaucher disease is the most prevalent inherited sphingolipidosis (1). It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait (2). Three clinical forms of Gaucher disease have been described: Type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic (1). The gene frequency of Gaucher disease in the Jewish populatio...

Procedures for the synthesis and radioactive labeling of L-glucosylceramide are described. This compound is a stereoisomeric analogue of D-glucosylceramide which occurs in nature and accumulates in pathological quantity in the organs and tissues of patients with Gaucher disease. The properties of L-glucosylceramide that have been examined so far have been found to be indistinguishable from thos...