Lysosomal α-Glucosidase DeficiencyGlycogen Storage Disease Type IISpringer Berlin Heidelbergdoi:10.1007/978-3-540-29676-8_8623Alexander K. C. LeungWilliam Lane M. RobsonCarsten BüningJohann OckengaLaura M. Tanner
Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and premature death. Numerous disease-causing mutations in the...
Glycogenosis (type II), also known as glycogen storage disease II (OMIM 232300), is an autosomal recessive disease, caused by mutations in the gene (GAA) encoding acid alpha-1, 4-glucosidase (acid maltase), which maps to chromosome 17q25.2–q25.3.68 In the classic infantile form (Pom...
E. Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J. Inherit Metab. Dis. 33, 747–750 (2010). CAS PubMed Google Scholar Settembre, C., Fraldi, A., Medina, D. L. & Ballabio, A. Signals from the lysosome: a control centre for cellular clearance ...
(lysosomes) essential for the processing of macromolecules. Undigested substrate accumulates within lysosomes, leading to cellular dysfunction, tissue damage, and clinical manifestations. Clinical features vary depending on the degree and type of enzyme deficiency, the type and extent of substrate ...
comprising measuring a level of alpha-glucosidase in a tissue sample obtained from the human patient, wherein the tissue sample is a plasma, serum, whole blood, amniotic fluid sample, or a combination thereof, wherein the level of alpha-glucosidase is an indicator of the presence or extent of...
Pompe disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase, responsible for t... CM Lynch,J Johnson,C Vaccaro,... - 《Journal of Histochemistry & Cytochemistry》 被引量: 99发表: 2005年 Isolation and Characterization of...
Pseudodeficiency To date, Pds due to polymorphic genetic variants, have been reported for at least nine lysosomal enzymes, including: arylsulphatase A (ARSAgene),[38] β-hexosaminidase (HEXAgene),[39] α-iduronidase (IDUAgene),[40] α-glucosidase (GAAgene),[41] α-galactosidase (GLAgene)...
Interestingly, S100A9 has been shown to colocalise and co-aggregate with alpha-synuclein in Lewy bodies in PD patients and in vitro studies suggest that S100A9 might alter the aggregation kinetics of alpha-synuclein40,41. Treatment with hGCase-hBS could efficiently revert the observed increase ...
A number of new proteins that are involved in LSDs have recently been identified, including an enzyme that is required for optimal sulphatase activity (defects in which cause multiple sulphatase deficiency) and soluble and integral membrane proteins that are involved in the ceroid lipofuscinoses. ...