(Q34094763)

31 July 2017

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title

Future perspectives for Tay-Sachs disease (English)

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31 July 2017

Desnick RJ

1

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31 July 2017

Kaback MM

series ordinal

2

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31 July 2017

publication date

1 January 2001

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31 July 2017

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31 July 2017

volume

44

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31 July 2017

page(s)

349-356

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Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure

31 July 2017

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Biology and potential strategies for the treatment of GM2 gangliosidoses

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Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease

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7 January 2021

Correction of the mutation responsible for sickle cell anemia by an RNA-DNA oligonucleotide

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Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

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Identification of candidate active site residues in lysosomal beta-hexosaminidase A.

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Engraftable human neural stem cells respond to developmental cues, replace neurons, and express foreign genes.

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Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells

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Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice

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Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases

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Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

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Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

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Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells

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Crystallographic evidence for substrate-assisted catalysis in a bacterial beta-hexosaminidase

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Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

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Neural stem cells -- a versatile tool for cell replacement and gene therapy in the central nervous system

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Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases

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7 January 2021

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

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Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

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Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain

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Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease

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The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse

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7 January 2021

Identification of an active acidic residue in the catalytic site of beta-hexosaminidase

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7 January 2021

Crystal structure of human GM2-activator protein with a novel beta-cup topology

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7 January 2021

10.1016/S0065-2660(01)44091-0

Identifiers

DOI

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31 July 2017

1 reference