Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis (Q33939283)

30 July 2017

Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis (English)

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Infantile neuronal ceroid lipofuscinosis

30 July 2017

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Marie S Roberts

1

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30 July 2017

Shannon L Macauley

2

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30 July 2017

Andrew M Wong

3

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30 July 2017

Denis Yilmas

4

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30 July 2017

Sarah Hohm

5

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30 July 2017

Jonathan D Cooper

6

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30 July 2017

Mark S Sands

7

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30 July 2017

7 February 2012

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Journal of Inherited Metabolic Disease

30 July 2017

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30 July 2017

35

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30 July 2017

5

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30 July 2017

847-857

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9446-x

30 July 2017

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cites work

Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Selectivity and types of cell death in the neuronal ceroid lipofuscinoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Recombinant adeno-associated virus type 2, 4, and 5 vectors: transduction of variant cell types and regions in the mammalian central nervous system.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9446-X

Recombinant AAV viral vectors pseudotyped with viral capsids from serotypes 1, 2, and 5 display differential efficiency and cell tropism after delivery to different regions of the central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9446-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9446-X

AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9446-X

CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9446-X

AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9446-X

Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9446-X

Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9446-X

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9446-X

Cardiac pathology in neuronal ceroid lipofuscinoses--a clinicopathologic correlation in three patients.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108163

Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22310926

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22310926

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-011-9446-X

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Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

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