(Q30644848)

16 September 2017

Sustained normalization of neurological disease after intracranial gene therapy in a feline model (English)

1 reference

16 September 2017

0 references

10

Ronald J Beyers

1 reference

16 September 2017

7

Nouha Salibi

0 references

author name string

Victoria J McCurdy

1

1 reference

16 September 2017

Aime K Johnson

2

1 reference

16 September 2017

Heather L Gray-Edwards

3

1 reference

16 September 2017

Ashley N Randle

4

1 reference

16 September 2017

Brandon L Brunson

5

1 reference

16 September 2017

Nancy E Morrison

6

1 reference

16 September 2017

Jacob A Johnson

8

1 reference

16 September 2017

Misako Hwang

9

1 reference

16 September 2017

Stanley G Leroy

11

1 reference

16 September 2017

Stacy Maitland

12

1 reference

16 September 2017

Thomas S Denney

13

1 reference

16 September 2017

Nancy R Cox

14

1 reference

16 September 2017

Henry J Baker

15

1 reference

16 September 2017

Miguel Sena-Esteves

16

1 reference

16 September 2017

Douglas R Martin

17

1 reference

16 September 2017

language of work or name

English

0 references

publication date

1 April 2014

1 reference

Science Translational Medicine

16 September 2017

1 reference

16 September 2017

6

1 reference

16 September 2017

231

1 reference

16 September 2017

231ra48

1 reference

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

16 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Long-term follow-up after gene therapy for canavan disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Imaging gene delivery in a mouse model of congenital neuronal ceroid lipofuscinosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Phase 2 clinical trial of a recombinant adeno-associated viral vector expressing α1-antitrypsin: interim results

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Lateral temporal lobe epilepsies: clinical and genetic features

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Calcium upregulation by percutaneous administration of gene therapy in cardiac disease (CUPID Trial), a first-in-human phase 1/2 clinical trial.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Host and vector-dependent effects on the risk of germline transmission of AAV vectors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Effective gene therapy in an authentic model of Tay-Sachs-related diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Adeno-associated virus vectors serotyped with AAV8 capsid are more efficient than AAV-1 or -2 serotypes for widespread gene delivery to the neonatal mouse brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Combinatorial ganglioside biosynthesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Prevalence of lysosomal storage disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Decreased lysosomal storage in the adult MPS VII mouse brain in the vicinity of grafts of retroviral vector-corrected fibroblasts secreting high levels of beta-glucuronidase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Neuronal GM 1 Gangliosidosis in a Siamese Cat with β-Galactosidase Deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Animal model: feline GM1 gangliosidosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

G-M1-gangliosidosis. Correlation of clinical and biochemical data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Feline GM 1 gangliosidosis: biochemical and ultrastructural comparisons with the disease in man.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

The Gangliosidoses: Comparative Features and Research Applications

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Generalized gangliosidosis: beta-galactosidase deficiency.

20 June 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

Mechanisms of distribution of mouse beta-galactosidase in the adult GM1-gangliosidosis brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

A single injection of an adeno-associated virus vector into nuclei with divergent connections results in widespread vector distribution in the brain and global correction of a neurogenetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

MR imaging findings in 2 cases of late infantile GM1 gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

Lack of germline transmission of vector sequences following systemic administration of recombinant AAV-2 vector in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

Gene therapy of the brain in the dog model of Hurler's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

Effective gene therapy for an inherited CNS disease in a large animal model

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3007733

Distribution of a lysosomal enzyme in the adult brain by axonal transport and by cells of the rostral migratory stream.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Neuroimaging findings in late infantile GM1 gangliosidosis

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412602

Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24718858

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inborn errors of mucopolysaccharide metabolism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24718858

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCITRANSLMED.3007733

1 reference

16 September 2017

1 reference

16 September 2017

PubMed publication ID

24718858

1 reference