GM2 gangliosidoses: clinical features, pathophysiological aspects, and current therapies
AF Leal, E Benincore-Flórez, D Solano-Galarza… - International journal of …, 2020 - mdpi.com
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside
accumulation into the lysosome due to mutations on the genes encoding for the β …
accumulation into the lysosome due to mutations on the genes encoding for the β …
A versatile toolkit for overcoming AAV immunity
X Li, X Wei, J Lin, L Ou - Frontiers in Immunology, 2022 - frontiersin.org
Recombinant adeno-associated virus (AAV) is a promising delivery vehicle for in vivo gene
therapy and has been widely used in> 200 clinical trials globally. There are already several …
therapy and has been widely used in> 200 clinical trials globally. There are already several …
Systematic comparison of rAAV vectors manufactured using large-scale suspension cultures of Sf9 and HEK293 cells
Recombinant adeno-associated virus (rAAV) vectors could be manufactured by plasmid
transfection into human embryonic kidney 293 (HEK293) cells or baculovirus infection of …
transfection into human embryonic kidney 293 (HEK293) cells or baculovirus infection of …
[HTML][HTML] The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment
C Toro, M Zainab, CJ Tifft - Neuroscience letters, 2021 - ncbi.nlm.nih.gov
The GM2 gangliosidoses, Tay-Sachs (TSD), Sandhoff disease (SD) and GM2 activator
deficiency are rare, progressive, neurodegenerative lysosomal storage disorders (LSDs) …
deficiency are rare, progressive, neurodegenerative lysosomal storage disorders (LSDs) …
Lysosomal storage diseases: current therapies and future alternatives
Lysosomal storage disorders (LSDs) are a group of monogenic diseases characterized by
progressive accumulation of undegraded substrates into the lysosome, due to mutations in …
progressive accumulation of undegraded substrates into the lysosome, due to mutations in …
A highly efficacious PS gene editing system corrects metabolic and neurological complications of mucopolysaccharidosis type I
Our previous study delivered zinc finger nucleases to treat mice with mucopolysaccharidosis
type I (MPS I), resulting in a phase I/II clinical trial (ClinicalTrials. gov: NCT02702115) …
type I (MPS I), resulting in a phase I/II clinical trial (ClinicalTrials. gov: NCT02702115) …
Gene therapy for lysosomal storage disorders: ongoing studies and clinical development
G Massaro, AF Geard, W Liu, O Coombe-Tennant… - Biomolecules, 2021 - mdpi.com
Rare monogenic disorders such as lysosomal diseases have been at the forefront in the
development of novel treatments where therapeutic options are either limited or unavailable …
development of novel treatments where therapeutic options are either limited or unavailable …
Lafora disease: Current biology and therapeutic approaches
The ubiquitin system impacts most cellular processes and is altered in numerous
neurodegenerative diseases. However, little is known about its role in neurodegenerative …
neurodegenerative diseases. However, little is known about its role in neurodegenerative …
Efficient CRISPR/Cas9 nickase-mediated genome editing in an in vitro model of mucopolysaccharidosis IVA
AF Leal, CJ Alméciga-Díaz - Gene Therapy, 2023 - nature.com
Abstract Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD)
caused by mutations in gene encoding for GALNS enzyme. Lack of GALNS activity leads to …
caused by mutations in gene encoding for GALNS enzyme. Lack of GALNS activity leads to …
Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based …
Abstract Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by
mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan …
mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan …