(Q28506454)

24 January 2017

title

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

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24 January 2017

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GOA release 2020-03-11

Hexosaminidase A

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GOA release 2020-03-11

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D. Phaneuf

1

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24 January 2017

N. Wakamatsu

2

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24 January 2017

J. Q. Huang

3

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24 January 2017

A. Borowski

4

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24 January 2017

A. C. Peterson

5

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24 January 2017

S. R. Fortunato

6

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24 January 2017

G. Ritter

7

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24 January 2017

S. A. Igdoura

8

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24 January 2017

C. R. Morales

9

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24 January 2017

G. Benoit

10

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24 January 2017

B. R. Akerman

11

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24 January 2017

D. Leclerc

12

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24 January 2017

N. Hanai

13

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24 January 2017

J. D. Marth

14

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24 January 2017

J. M. Trasler

15

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24 January 2017

R. A. Gravel

16

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24 January 2017

publication date

1 January 1996

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24 January 2017

published in

Human Molecular Genetics

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24 January 2017

volume

5

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24 January 2017

issue

1

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24 January 2017

page(s)

1–14

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Topographical atlas of the gangliosides of the adult human brain

24 January 2017

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AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2

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

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GM2 gangliosidosis in a Japanese spaniel

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Clinical and Biochemical Abnormalities in Porcine GM2-Gangliosidosis

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GM 2 Ganglioside Lysosomal Storage Disease in Cats with α-Hexosaminidase Deficiency

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Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats

21 January 2018

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Structural organization, sequence, and expression of the mouse HEXA gene encoding the alpha subunit of hexosaminidase A.

21 January 2018

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Identification of beta-N-acetylhexosaminidase A in mouse tissues with the fluorigenic substrate 4-methylumbelliferyl-beta-N-acetylglucosamine 6-sulphate

21 January 2018

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Purification and characterization of beta-N-acetylhexosaminidase I2 from human liver

21 January 2018

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21 January 2018

The modular cerebellum

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Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

21 January 2018

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Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease

21 January 2018

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Initiation and growth of ectopic neurites and meganeurites during postnatal cortical development in ganglioside storage disease

21 January 2018

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Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement

21 January 2018

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Biochemical and immunological studies on two distinct ganglioside-hydrolyzing sialidases from the particulate fraction of rat brain

21 January 2018

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Enzyme alterations and lipid storage in three variants of Tay-Sachs disease

21 January 2018

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

21 January 2018

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Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

21 January 2018

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Cloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme

21 January 2018

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Cloning and sequence analysis of a cDNA encoding the beta-subunit of mouse beta-hexosaminidase

21 January 2018

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Derivation of completely cell culture-derived mice from early-passage embryonic stem cells

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/5.1.1

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017