(Q45884511)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

title

AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

Infantile neuronal ceroid lipofuscinosis

13 January 2020

main subject

gene therapy

0 references

0 references

author

Shannon L Macauley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Judith M Ogilvie

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Mark S Sands

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

author name string

Megan Griffey

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

publication date

1 September 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

page(s)

413-421

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15979943%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

13 January 2020

cites work

1 reference

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Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis

7 January 2021

1 reference

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Lysosomal targeting of palmitoyl-protein thioesterase

7 January 2021

1 reference

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Genetics of the neuronal ceroid lipofuscinoses

7 January 2021

1 reference

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Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies

7 January 2021

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Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies

7 January 2021

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Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations

7 January 2021

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Inborn errors of mucopolysaccharide metabolism

7 January 2021

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Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors

7 January 2021

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Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis

7 January 2021

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Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis

7 January 2021

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Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice.

7 January 2021

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Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice

7 January 2021

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Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: An overview

7 January 2021

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The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses

7 January 2021

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The HIV Tat protein transduction domain improves the biodistribution of beta-glucuronidase expressed from recombinant viral vectors.

7 January 2021

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7 January 2021

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Persistent transgene product in retina, optic nerve and brain after intraocular injection of rAAV.

7 January 2021

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Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model

7 January 2021

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7 January 2021

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Biodistribution of rAAV vectors following intraocular administration: evidence for the presence and persistence of vector DNA in the optic nerve and in the brain.

7 January 2021

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7 January 2021

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7 January 2021

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Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield

7 January 2021

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AAV-mediated intravitreal gene therapy reduces lysosomal storage in the retinal pigmented epithelium and improves retinal function in adult MPS VII mice.

7 January 2021

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Retinal function is improved in a murine model of a lysosomal storage disease following bone marrow transplantation

7 January 2021

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A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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