(Q42176546)

18 October 2017

Biochemical, histological and functional correction of mucopolysaccharidosis type IIIB by intra-cerebrospinal fluid gene therapy (English)

1 reference

mucopolysaccharidosis type IIIB

18 October 2017

0 references

0 references

1 reference

1

1 reference

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12 June 2020

Virginia Haurigot

2

1 reference

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12 June 2020

Sandra Motas

5

1 reference

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12 June 2020

Xavier León

8

1 reference

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12 June 2020

Maria Molas

9

1 reference

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12 June 2020

Víctor Sánchez

10

1 reference

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12 June 2020

Sergio Muñoz

11

1 reference

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12 June 2020

Xavier Moll

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524704%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Jesús Ruberte

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524704%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sonia Añor

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524704%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Fatima Bosch

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524704%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Miguel Garcia

3

1 reference

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12 June 2020

Sara Marcó

4

1 reference

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12 June 2020

Pilar Villacampa

6

1 reference

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12 June 2020

Luca Maggioni

7

1 reference

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12 June 2020

Christian Leborgne

12

1 reference

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12 June 2020

Martí Pumarola

14

1 reference

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12 June 2020

Federico Mingozzi

15

1 reference

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12 June 2020

publication date

18 December 2014

1 reference

18 October 2017

Human Molecular Genetics

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524704%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

24

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12 June 2020

issue

7

1 reference

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12 June 2020

page(s)

2078-2095

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524704%20AND%20SRC:MED&resulttype=core&format=json

Human alpha-n-acetylglucosaminidase. 2. Activity towards natural substrates and multiple recognition forms

12 June 2020

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Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

21 January 2018

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The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

21 January 2018

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Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue

21 January 2018

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Sanfilippo syndrome: a mini-review

21 January 2018

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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

21 January 2018

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Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

21 January 2018

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Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

21 January 2018

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The molecular basis of Sanfilippo syndrome type B

21 January 2018

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Central nervous system therapy for lysosomal storage disorders

21 January 2018

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Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB.

21 January 2018

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Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts

21 January 2018

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

21 January 2018

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Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery

21 January 2018

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Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates

21 January 2018

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Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations.

21 January 2018

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Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial

21 January 2018

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Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.

21 January 2018

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Robust systemic transduction with AAV9 vectors in mice: efficient global cardiac gene transfer superior to that of AAV8.

21 January 2018

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Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons

21 January 2018

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Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

21 January 2018

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Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I

21 January 2018

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Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase

21 January 2018

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Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB

21 January 2018

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Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB.

21 January 2018

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Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB.

21 January 2018

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Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B

21 January 2018

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Differential distribution of heparan sulfate glycoforms and elevated expression of heparan sulfate biosynthetic enzyme genes in the brain of mucopolysaccharidosis IIIB mice

21 January 2018

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Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB

21 January 2018

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Peripheral nervous system neuropathology and progressive sensory impairments in a mouse model of Mucopolysaccharidosis IIIB.

21 January 2018

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Amyloidosis, synucleinopathy, and prion encephalopathy in a neuropathic lysosomal storage disease: the CNS-biomarker potential of peripheral blood

21 January 2018

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21 January 2018

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Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB.

21 January 2018

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Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector

21 January 2018

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Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice

21 January 2018

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Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB

21 January 2018

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Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery

21 January 2018

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Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice.

21 January 2018

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21 January 2018

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Correction of pathological accumulation of glycosaminoglycans in central nervous system and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer

21 January 2018

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21 January 2018

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21 January 2018

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Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Lysosomal storage diseases and the blood-brain barrier

21 January 2018

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Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

21 January 2018

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Sex significantly influences transduction of murine liver by recombinant adeno-associated viral vectors through an androgen-dependent pathway

21 January 2018

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AAV-mediated gene transfer in the perinatal period results in expression of FVII at levels that protect against fatal spontaneous hemorrhage.

21 January 2018

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Enzyme replacement and enhancement therapies for lysosomal diseases

21 January 2018

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Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII.

21 January 2018

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Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II

21 January 2018

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Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

21 January 2018

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Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders

21 January 2018

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Secondary accumulation of gangliosides in lysosomal storage disorders

21 January 2018

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Pathology of Mucopolysaccharidosis IIIA in Huntaway Dogs

21 January 2018

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Autophagy failure in Alzheimer's disease and the role of defective lysosomal acidification

21 January 2018

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Lysosomal impairment in Parkinson's disease

21 January 2018

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Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice

21 January 2018

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Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

21 January 2018

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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

21 January 2018

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Adeno-associated virus antibody profiles in newborns, children, and adolescents

21 January 2018

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Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice.

21 January 2018

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

21 January 2018

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21 January 2018

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