(Q40088069)

17 September 2017

title

Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options (English)

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metachromatic leukodystrophy

17 September 2017

main subject

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Volkmar Gieselmann

1

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17 September 2017

language of work or name

English

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publication date

1 April 2008

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17 September 2017

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17 September 2017

volume

97

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17 September 2017

issue

457

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17 September 2017

page(s)

15-21

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Structure of the arylsulfatase A gene

17 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Sulfatide storage in visceral organs of arylsulfatase A-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and S

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

The status of hematopoietic stem cell transplantation in lysosomal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Human CD34+ cells differentiate into microglia and express recombinant therapeutic protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Enzyme, cell and gene-based therapies for metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Ex vivo cell-mediated gene therapy for metachromatic leukodystrophy using neurospheres.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

Embryonic stem cell-based reduction of central nervous system sulfatide storage in an animal model of metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00648.X

10.1111/J.1651-2227.2008.00648.X

21 January 2018

Identifiers

DOI

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17 September 2017

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