Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). (Q34349495)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23747979%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23747979%20AND%20SRC:MED&resulttype=core&format=json

Infantile neuronal ceroid lipofuscinosis

2 March 2020

main subject

0 references

author

Jonathan D. Cooper

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23747979%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Mark S Sands

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23747979%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Jacqueline A Hawkins-Salsbury

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23747979%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

language of work or name

English

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publication date

6 June 2013

1 reference

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Biochimica et Biophysica Acta

2 March 2020

published in

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2 March 2020

volume

1832

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2 March 2020

issue

11

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2 March 2020

page(s)

1906-1909

1 reference

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Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate

2 March 2020

cites work

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Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification

6 July 2018

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Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

6 July 2018

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Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis

6 July 2018

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The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol

6 July 2018

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

6 July 2018

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Protective potential of resveratrol against oxidative stress and apoptosis in Batten disease lymphoblast cells

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Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuronal ceroid lipofuscinosis

6 July 2018

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

6 July 2018

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Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis

6 July 2018

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Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA.

6 July 2018

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

6 July 2018

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

6 July 2018

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Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.

6 July 2018

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Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

6 July 2018

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The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function

6 July 2018

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

6 July 2018

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Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis

6 July 2018

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6 July 2018

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Genetics of the neuronal ceroid lipofuscinoses

6 July 2018

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Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase

6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis.

27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/23747979

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12 December 2020

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Identifiers

DOI

10.1016/J.BBADIS.2013.05.026

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2 March 2020

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2 March 2020

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