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Comment
. 2020 Oct 7;28(10):2104-2105.
doi: 10.1016/j.ymthe.2020.09.017. Epub 2020 Sep 18.

Dual Purpose Vectors for Rare Neurological Diseases

Brian W Bigger  1
Affiliations
Comment

Dual Purpose Vectors for Rare Neurological Diseases

Brian W Bigger. Mol Ther. .
No abstract available

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Figures

Figure 1
Figure 1
Constraints on Assembly of Hex-A and Hex-B Isoforms of Hexosaminidase Tay-Sachs and Sandhoff are caused by deficiencies in the HEXA (α subunit of hexosaminidase) and HEXB (β subunit of hexosaminidase) genes, respectively. These subunits assemble into a heterodimeric (α-β hexosaminidase isoform A; Hex-A) or homodimeric (β-β hexosaminidase isoform B; Hex-B) enzyme. Over-production of one subunit appears to inhibit assembly of the other enzyme isoform, likely due to steric effects. This was demonstrated in 2012 when expression of HEXB in the mouse model of Sandhoff resulted in undetectable Hex-A expression, presumably through reduced α subunit availability or negative regulation. Effective gene therapy strategies for Tay-Sachs and Sandhoff, therefore, likely require delivery of both HEXA and HEXB genes at a similar gene dosage.
See this image and copyright information in PMC

Comment in

  • Letter to the Editor.
    Mark BL, Mahuran D. Mark BL, et al. Mol Ther. 2021 Jan 6;29(1):3. doi: 10.1016/j.ymthe.2020.12.006. Epub 2020 Dec 11. Mol Ther. 2021. PMID: 33321097 Free PMC article. No abstract available.

Comment on

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