Refining the concept of GFAP toxicity in Alexander disease
Abstract Background Alexander disease is caused by dominantly acting mutations in glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes in the central nervous system. Main body In addition to the sequence variants that represent the origin of disease, GFAP accumulatio...
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| Series: | Journal of Neurodevelopmental Disorders |
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| Online Access: | https://doi.org/10.1186/s11689-019-9290-0 |
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doaj-63ab39b70d614bd985004e5d90724aa32020-12-20T12:38:41ZengBMCJournal of Neurodevelopmental Disorders1866-19471866-19552019-12-011111410.1186/s11689-019-9290-0Refining the concept of GFAP toxicity in Alexander diseaseAlbee Messing0Waisman Center and Department of Comparative Biosciences, University of Wisconsin-MadisonAbstract Background Alexander disease is caused by dominantly acting mutations in glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes in the central nervous system. Main body In addition to the sequence variants that represent the origin of disease, GFAP accumulation also takes place, together leading to a gain-of-function that has sometimes been referred to as “GFAP toxicity.” Whether the nature of GFAP toxicity in patients, who have mixtures of both mutant and normal protein, is the same as that produced by simple GFAP excess, is not yet clear. Conclusion The implications of these questions for the design of effective treatments are discussed.https://doi.org/10.1186/s11689-019-9290-0GFAPAstrocyteAntisense oligonucleotides |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Albee Messing |
| spellingShingle |
Albee Messing Refining the concept of GFAP toxicity in Alexander disease Journal of Neurodevelopmental Disorders GFAP Astrocyte Antisense oligonucleotides |
| author_facet |
Albee Messing |
| author_sort |
Albee Messing |
| title |
Refining the concept of GFAP toxicity in Alexander disease |
| title_short |
Refining the concept of GFAP toxicity in Alexander disease |
| title_full |
Refining the concept of GFAP toxicity in Alexander disease |
| title_fullStr |
Refining the concept of GFAP toxicity in Alexander disease |
| title_full_unstemmed |
Refining the concept of GFAP toxicity in Alexander disease |
| title_sort |
refining the concept of gfap toxicity in alexander disease |
| publisher |
BMC |
| series |
Journal of Neurodevelopmental Disorders |
| issn |
1866-1947 1866-1955 |
| publishDate |
2019-12-01 |
| description |
Abstract Background Alexander disease is caused by dominantly acting mutations in glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes in the central nervous system. Main body In addition to the sequence variants that represent the origin of disease, GFAP accumulation also takes place, together leading to a gain-of-function that has sometimes been referred to as “GFAP toxicity.” Whether the nature of GFAP toxicity in patients, who have mixtures of both mutant and normal protein, is the same as that produced by simple GFAP excess, is not yet clear. Conclusion The implications of these questions for the design of effective treatments are discussed. |
| topic |
GFAP Astrocyte Antisense oligonucleotides |
| url |
https://doi.org/10.1186/s11689-019-9290-0 |
| work_keys_str_mv |
AT albeemessing refiningtheconceptofgfaptoxicityinalexanderdisease |
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