(Q34318553)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Long-term follow-up after gene therapy for canavan disease (English)

1 reference

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21 February 2020

0 references

12

1 reference

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21 February 2020

author name string

Paola Leone

1

1 reference

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21 February 2020

David Shera

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Scott W J McPhee

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Jeremy S Francis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Edwin H Kolodny

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Larissa T Bilaniuk

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Dah-Jyuu Wang

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Mitra Assadi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Olga Goldfarb

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

H Warren Goldman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Andrew Freese

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Matthew J During

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

R Jude Samulski

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Christopher G Janson

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

language of work or name

English

0 references

publication date

1 December 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

Science Translational Medicine

21 February 2020

published in

1 reference

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21 February 2020

volume

4

1 reference

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21 February 2020

issue

165

1 reference

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21 February 2020

page(s)

165ra163

1 reference

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Aspartoacylase supports oxidative energy metabolism during myelination

21 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

The neuroactive peptide N-acetylaspartylglutamate is not an agonist at the metabotropic glutamate receptor subtype 3 of metabotropic glutamate receptor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Structure of aspartoacylase, the brain enzyme impaired in Canavan disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Novel role for aspartoacylase in regulation of BDNF and timing of postnatal oligodendrogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Activation by N-Acetyl-l-Aspartate of Acutely Dissociated Hippocampal Neurons in Rats via Metabotropic Glutamate Receptors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Developmental increase of aspartoacylase in oligodendrocytes parallels CNS myelination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

In vivo quantitative proton MRSI study of brain development from childhood to adolescence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Intraneuronal N-acetylaspartate supplies acetyl groups for myelin lipid synthesis: evidence for myelin-associated aspartoacylase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Transport of N-acetylaspartate by the Na(+)-dependent high-affinity dicarboxylate transporter NaDC3 and its relevance to the expression of the transporter in the brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Functions of N-acetyl-L-aspartate and N-acetyl-L-aspartylglutamate in the vertebrate brain: role in glial cell-specific signaling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Molecular water pumps and the aetiology of Canavan disease: a case of the sorcerer's apprentice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

The clinical course of Canavan disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

N-acetylaspartate in neuropsychiatric disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Development of the human brain: in vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Extracellular N-acetylaspartate in the rat brain: in vivo determination of basal levels and changes evoked by high K+.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Investigation into the role of N-acetylaspartate in cerebral osmoregulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Random-effects models for longitudinal data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Acetate metabolism in the nervous system. N-acetyl-L-aspartic acid and the biosynthesis of brain lipids.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Familial spongy degeneration of the central nervous system (Van Bogaert-Bertrand disease). An ultrastructural study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan's disease)A review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Cerebral spongy degeneration of infancy. A biochemical and ultrastructural study of affected twins.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

N-Acetyl-<i>L</i>-Aspartate is a Major Source of Acetyl Groups for Lipid Synthesis during Rat Brain Development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Immunohistochemical localization of N-acetylaspartate in rat brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Immunocytochemical localization of N-acetyl-aspartate with monoclonal antibodies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Specific expression of N-acetylaspartate in neurons, oligodendrocyte-type-2 astrocyte progenitors, and immature oligodendrocytes in vitro.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Synthesis of N-acetyl-l-aspartate by rat brain mitochondria and its involvement in mitochondrial/cytosolic carbon transport

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Developmental and regional distribution of aspartoacylase in rat brain tissue

6 July 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Immunohistochemical localization of aspartoacylase in the rat central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Direct determination of the N-acetyl-L-aspartate synthesis rate in the human brain by (13)C MRS and [1-(13)C]glucose infusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Characterization of the N-acetylaspartate biosynthetic enzyme from rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

N-Acetylaspartate synthase is bimodally expressed in microsomes and mitochondria of brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Astroglia contain a specific transport mechanism for N-acetyl-L-aspartate

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

SPONGY DEGENERATION OF WHITE MATTER: CANAVAN'S SCLEROSIS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Lithium citrate for Canavan disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Robust Locally Weighted Regression and Smoothing Scatterplots

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Immune responses to AAV in a phase I study for Canavan disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Quantitative comparison of expression with adeno-associated virus (AAV-2) brain-specific gene cassettes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Spongy degeneration of the brain. A chemical study of two cases including isolation and characterization of myelin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

A safety trial of high dose glyceryl triacetate for Canavan disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3003454

Studies on the distribution of N-acetyl-L-aspartic acid in brain.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

N-Acetyl-L-aspartic acid in brain.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Protracted clinical course for patients with Canavan disease.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3794457

Expression of aspartoacylase activity in cultured rat macroglial cells is limited to oligodendrocytes

28 October 2018

1 reference

12 December 2020

Epileptic seizures induced by N-acetyl-L-aspartate in rats: in vivo and in vitro studies

1 reference

12 December 2020

Accumulation of N-acetyl-L-aspartate in the brain of the tremor rat, a mutant exhibiting absence-like seizure and spongiform degeneration in the central nervous system

1 reference

12 December 2020

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

1 reference

12 December 2020

Purification and Characterization of the Heat-Stable Factors Essential for the Conversion of Lignoceric Acid to Cerebronic Acid and Glutamic Acid: Identification of N-Acetyl-l-Aspartic Acid

1 reference

12 December 2020

High concentrations of N-acetylaspartylglutamate (NAAG) selectively activate NMDA receptors on mouse spinal cord neurons in cell culture

1 reference

12 December 2020

Purification, characterization, and localization of aspartoacylase from bovine brain

1 reference

12 December 2020

The effect of N-acetylaspartate on the intracellular free calcium concentration in NTera2-neurons

1 reference

12 December 2020

10.1126/SCITRANSLMED.3003454

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

PubMed publication ID

23253610

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23253610%20AND%20SRC:MED&resulttype=core&format=json