Brain endothelial specific gene therapy improves experimental Sandhoff disease

Adeno-Associated Virus Gene Therapy in a Sheep Model of Tay–Sachs Disease

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Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice

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Direct Intracranial Injection of AAVrh8 Encoding Monkey β-N-Acetylhexosaminidase Causes Neurotoxicity in the Primate Brain

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AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease

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Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

(2017) Maoxue Tang et al.   Nature Communications

A brain microvasculature endothelial cell‐specific viral vector with the potential to treat neurovascular and neurological diseases

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Comprehensive untargeted lipidomic analysis using core–shell C30 particle column and high field orbitrap mass spectrometer

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Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model

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Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

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Long-Term Correction of Sandhoff Disease Following Intravenous Delivery of rAAV9 to Mouse Neonates

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A new liquid chromatography/tandem mass spectrometry method for quantification of gangliosides in human plasma

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Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice

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Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

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In Vivo Imaging of Cerebral Microvascular Plasticity from Birth to Death

(2012) Roa Harb et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation

(2012) Stephanos Kyrkanides et al.   Journal of Neuroinflammation

Gene Transfer Corrects Acute GM2 Gangliosidosis—Potential Therapeutic Contribution of Perivascular Enzyme Flow

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TAK1 in brain endothelial cells mediates fever and lethargy

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Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis

(2010) Daisuke Tsuji et al.   ANNALS OF NEUROLOGY

Molecular signatures of disease brain endothelia provide new sites for CNS-directed enzyme therapy

(2009) Yong Hong Chen et al.   NATURE MEDICINE

Induced secretion of β-hexosaminidase by human brain endothelial cells: A novel approach in Sandhoff disease?

(2009) Lionel Batista et al.   NEUROBIOLOGY OF DISEASE

Hexosaminidase assays

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Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

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