Refining the concept of GFAP toxicity in Alexander disease / Albee MESSING in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 27 Titre : Refining the concept of GFAP toxicity in Alexander disease Type de document : texte imprimé Auteurs : Albee MESSING, Auteur Article en page(s) : 27 Langues : Anglais (eng) Mots-clés : Alexander Disease/genetics  Animals  Astrocytes/metabolism  Glial Fibrillary Acidic Protein/genetics/metabolism  Humans  Mutation  Antisense oligonucleotides  Astrocyte  Gfap Index. décimale : PER Périodiques Résumé : 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. En ligne : https://dx.doi.org/10.1186/s11689-019-9290-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Refining the concept of GFAP toxicity in Alexander disease [texte imprimé] / Albee MESSING, Auteur . - 27. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 27 Mots-clés : Alexander Disease/genetics  Animals  Astrocytes/metabolism  Glial Fibrillary Acidic Protein/genetics/metabolism  Humans  Mutation  Antisense oligonucleotides  Astrocyte  Gfap Index. décimale : PER Périodiques Résumé : 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. En ligne : https://dx.doi.org/10.1186/s11689-019-9290-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

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