GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
GM(1) gangliosidosis is a lysosomal storage disorder due to deficiency of the beta-galactosidase enzyme. This deficiency results in accumulation of GM(1) gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling, cellular damage, and organ dysfunction. The disease is lethal in the infantile and juvenile forms. To date, up to 102 mutations distributed along the beta-galactosidase gene (GLB1) have been reported. This review gives an overview of the clinical and molecular findings in patients with GM(1) gangliosidosis. Furthermore, it describes therapeutic approaches which are currently under investigation in animal models of the disease.
Brunetti-Pierri
Nicola
N
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Scaglia
Fernando
F
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D002648:Child; D002675:Child, Preschool; D004195:Disease Models, Animal; D005260:Female; D016537:Gangliosidosis, GM1 / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000628:therapy*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D001616:beta-Galactosidase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
D001616:beta-Galactosidase