Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants-Reference-Cited by-同舟云学术

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Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants

Published:2016-05-30 Issue:8 Volume:17 Page:908-922
ISSN:1398-9219
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language:en
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Author:

Spratley Samantha J.¹,Hill Chris H.¹²,Viuff Agnete H.³,Edgar James R.⁴,Skjødt Karsten⁵,Deane Janet E.¹^ORCID

Affiliation:

1. Cambridge Institute for Medical Research, Department of Pathology University of Cambridge Cambridge CB2 0XY UK

2. Current address: MRC Laboratory of Molecular Biology Cambridge CB2 0QH UK

3. Department of Chemistry Aarhus University Aarhus C 8000 Denmark

4. Cambridge Institute for Medical Research, Department of Clinical Biochemistry University of Cambridge Cambridge CB2 0XY UK

5. Department of Cancer and Inflammation University of Southern Denmark Odense 5000 Denmark

Funder

Lundbeckfonden

Publisher

Wiley

Subject

Cell Biology,Genetics,Molecular Biology,Biochemistry,Structural Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/tra.12404

Reference40 articles.

1. Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy

2. Krabbe Disease: Isolation and Characterization of a Full-Length cDNA for Human Galactocerebrosidase

3. Insights into Krabbe disease from structures of galactocerebrosidase

4. HEREDITARY LEUCODYSTROPHY IN THE MOUSE: THE NEW MUTANT TWITCHER

5. Molecular Cloning and Expression of cDNA for Murine Galactocerebrosidase and Mutation Analysis of the Twitcher Mouse, a Model of Krabbe's Disease

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1. Nanomedicines to treat rare neurological disorders: The case of Krabbe disease;Advanced Drug Delivery Reviews;2023-12

2. Brain Targeted AAV1-GALC Gene Therapy Reduces Psychosine and Extends Lifespan in a Mouse Model of Krabbe Disease;Genes;2023-07-25

3. Altered plasma membrane abundance of the sulfatide-binding protein NF155 links glycosphingolipid imbalances to demyelination;Proceedings of the National Academy of Sciences;2023-03-30

4. A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family;Neurological Sciences;2023-03-15

5. Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease;Neurobiology of Disease;2022-11

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