(Q36240598)

English

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

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scholarly article

1 reference

Europe PubMed Central

13 August 2017

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 (English)

1 reference

Europe PubMed Central

13 August 2017

Infantile neuronal ceroid lipofuscinosis

0 references

enzyme replacement therapy

0 references

author name string

Jie Hu

1

1 reference

Europe PubMed Central

13 August 2017

Jui-Yun Lu

2

1 reference

Europe PubMed Central

13 August 2017

Andrew M S Wong

3

1 reference

Europe PubMed Central

13 August 2017

Linda S Hynan

4

1 reference

Europe PubMed Central

13 August 2017

Shari G Birnbaum

5

1 reference

Europe PubMed Central

13 August 2017

Denis S Yilmaz

6

1 reference

Europe PubMed Central

13 August 2017

Barbara M Streit

7

1 reference

Europe PubMed Central

13 August 2017

Ewelina M Lenartowicz

8

1 reference

Europe PubMed Central

13 August 2017

Thomas C M Thompson

9

1 reference

Europe PubMed Central

13 August 2017

Jonathan D Cooper

10

1 reference

Europe PubMed Central

13 August 2017

Sandra L Hofmann

11

1 reference

Europe PubMed Central

13 August 2017

publication date

22 May 2012

1 reference

Europe PubMed Central

13 August 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

13 August 2017

107

1 reference

Europe PubMed Central

13 August 2017

1-2

1 reference

Europe PubMed Central

13 August 2017

213-221

1 reference

Europe PubMed Central

13 August 2017

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

1 reference

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1 reference

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

1 reference

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Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

1 reference

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Enzyme replacement therapy for lysosomal storage diseases

1 reference

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Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase

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1 reference

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A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

1 reference

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3444630

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1 reference

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

1 reference

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1 reference

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

1 reference

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Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

1 reference

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

1 reference

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Ocular phenotype in a mouse gene knockout model for infantile neuronal ceroid lipofuscinosis

1 reference

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Thematic review series: lipid posttranslational modifications. Lysosomal metabolism of lipid-modified proteins

1 reference

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Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

1 reference

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

1 reference

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Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier

1 reference

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

1 reference

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Mucolipidosis type II with evidence of a novel storage site

1 reference

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3444630

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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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3444630

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

1 reference

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The mannose-6-phosphate receptor for lysosomal enzymes is concentrated in cis Golgi cisternae

1 reference

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1 reference

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

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Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis.

1 reference

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Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis

1 reference

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

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1 reference

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1 reference

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1 reference

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inferred from PubMed ID database lookup

Identifiers

10.1016/J.YMGME.2012.05.009

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

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