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Literature summary for 3.1.6.1 extracted from

  • Colle, M.A.; Piguet, F.; Bertrand, L.; Raoul, S.; Bieche, I.; Dubreil, L.; Sloothaak, D.; Bouquet, C.; Moullier, P.; Aubourg, P.; Cherel, Y.; Cartier, N.; Sevin, C.
    Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate (2010), Hum. Mol. Genet., 19, 147-158.
    View publication on PubMed
Search for more literature for 3.1.6.1

Application

Application Comment Organism
medicine potential benefits of ARSA brain gene therapy in patients with metachromatic leukodystrophy, MLD Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
ARSA, cloning of the coding sequence of the human ARSA cDNA tagged with HA epitope in C-terminus into viral serotype 5 adeno-associated vector, AAV2-5 Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information intracerebral injection of a serotype 5 adeno-associated vector, AAV2-5, encoding human ARSA in ARSA-deficient mice corrects the biochemical, neuropathological and behavioral abnormalities. Injection in the right hemisphere and into three selected areas of the centrum semiovale white matter, or in the deep gray matter nuclei, caudate nucleus, putamen, thalamus, of six non-human primates, Macaca fascicularis, to evaluate vector distribution, as well as expression and activity of human ARSA, overview. ARSA enzyme is expressed in multiple interconnected brain areas and ARSA activity is increased by 12-38% in a brain volume that corresponded to 50–65% of injected hemisphere Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
 Homo sapiens
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glial cell
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 Homo sapiens
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neuron
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 Homo sapiens
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Synonyms

Synonyms Comment Organism
ARSA
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 Homo sapiens
arylsulfatase A
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction metachromatic leukodystrophy, MLD, is a lethal neurodegenerative disease caused by a deficiency in the lysosomal arylsulfatase A enzyme leading to the accumulation of sulfatides in glial and neuronal cells Homo sapiens