373. Optimization of AAV-Gene Therapy for GM1-Gangliosidosis
نویسندگان
چکیده
منابع مشابه
Gene therapy for GM1 gangliosidosis: challenges of translational medicine.
G M1 gangliosidosis G M1 gangliosidosis is an autosomal recessive lysosomal storage disorder with an estimated incidence of between 1 in 100,000 and 1 in 200,000 (1). Clinical features are predominantly those of a neurodegenerative disorder due to G M1 ganglioside deposition in the central nervous system (CNS). Other clinical features include hepatosplenomegaly, coarse facial features and skele...
متن کاملGM1 Gangliosidosis Test
The GM1 Gangliosidosis Test provides a high quality read-out of all exons of GLB1 gene. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and express service TAT 7-10 days). The GM1 Gangliosidosis Test has undergone rigorous validation process...
متن کاملAAV-Mediated Gene Delivery in Adult GM1-Gangliosidosis Mice Corrects Lysosomal Storage in CNS and Improves Survival
BACKGROUND GM1-gangliosidosis is a glycosphingolipid (GSL) lysosomal storage disease caused by a genetic deficiency of acid β-galactosidase (βgal), which results in the accumulation of GM1-ganglioside and its asialo-form (GA1) primarily in the CNS. Age of onset ranges from infancy to adulthood, and excessive ganglioside accumulation produces progressive neurodegeneration and psychomotor retarda...
متن کاملPeripheral blood findings in GM1 gangliosidosis.
T his peripheral blood is from a 3-month-old male patient with a prior diagnosis of GM1 gangliosidosis type I, who was admitted with fever and leukocytosis. There is a family history of 2 siblings with GM1 gangliosidosis. Cellulitis was diagnosed and successfully treated with antibiotics. This photomicrograph depicts the typical peripheral blood findings in GM1 gangliosidosis: a vacuolated lymp...
متن کاملGM1-generalized gangliosidosis variant with cardiomegaly.
A female infant with generalized GM1-gangliosidosis differing in several aspects from previously reported cases is described. Clinically she is the first case to have cardiomegaly, unilateral congenitial dislocation of the hip and normal facial appearance. She had a higher residual leucocyte 13-galactosidase activity towards two synthetic substrates, namely p-nitrophenyl-f3-D-galactoside (PNP-1...
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ژورنال
عنوان ژورنال: Molecular Therapy
سال: 2016
ISSN: 1525-0016
DOI: 10.1016/s1525-0016(16)33182-3