PMC:5590178 / 25661-26836 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T56","span":{"begin":259,"end":268},"obj":"Phenotype"}],"attributes":[{"id":"A56","pred":"hp_id","subj":"T56","obj":"http://purl.obolibrary.org/obo/HP_0000639"}],"text":"We demonstrated in zebrafish embryos that the p.Asp128Asn induced less GFAP aggregates than p.Arg79Cys, p.Arg79His, p.Arg239Cys and p.Arg239His. The proband’s AxD appears to be classified as adult or type II AxD given the proband’s late AAO, bulbar symptoms, nystagmus and atypical MRI features [3, 10, 11]. Two previously reported cases of p.Asp128Asn also seem to be of the same classification [32, 33]. On the other hand, almost all cases of p.Arg79Cys, p.Arg79His, p.Arg239Cys and p.Arg239His fall under the infantile or type I AxD classification [11]. It is therefore tempting to speculate that the aggregation tendency of GFAP mutants may be related to AAO: high aggregation tendency results in early AAO, thereby infantile or type I AxD, and low aggregation tendency brings about late AAO, leading to adult or type II AxD. This notion is supported by a report by Perng and colleagues that two mutant alleles of GFAP found in infantile AxD, p.Asn386Ile and p.Asp417MetfsX14, induced more GFAP aggregates than did three mutant alleles found in adult AxD, p.Ser393Ile, p.Ser398Phe and p.Ser398Tyr [42]. Of course, this notion warrants further comprehensive investigation."}

{"project":"2_test","denotations":[{"id":"28882119-14572141-12765658","span":{"begin":296,"end":297},"obj":"14572141"},{"id":"28882119-14770299-12765659","span":{"begin":299,"end":301},"obj":"14770299"},{"id":"28882119-21917775-12765660","span":{"begin":303,"end":305},"obj":"21917775"},{"id":"28882119-25997626-12765661","span":{"begin":397,"end":399},"obj":"25997626"},{"id":"28882119-18684770-12765662","span":{"begin":401,"end":403},"obj":"18684770"},{"id":"28882119-21917775-12765663","span":{"begin":552,"end":554},"obj":"21917775"},{"id":"28882119-21756903-12765664","span":{"begin":1102,"end":1104},"obj":"21756903"}],"text":"We demonstrated in zebrafish embryos that the p.Asp128Asn induced less GFAP aggregates than p.Arg79Cys, p.Arg79His, p.Arg239Cys and p.Arg239His. The proband’s AxD appears to be classified as adult or type II AxD given the proband’s late AAO, bulbar symptoms, nystagmus and atypical MRI features [3, 10, 11]. Two previously reported cases of p.Asp128Asn also seem to be of the same classification [32, 33]. On the other hand, almost all cases of p.Arg79Cys, p.Arg79His, p.Arg239Cys and p.Arg239His fall under the infantile or type I AxD classification [11]. It is therefore tempting to speculate that the aggregation tendency of GFAP mutants may be related to AAO: high aggregation tendency results in early AAO, thereby infantile or type I AxD, and low aggregation tendency brings about late AAO, leading to adult or type II AxD. This notion is supported by a report by Perng and colleagues that two mutant alleles of GFAP found in infantile AxD, p.Asn386Ile and p.Asp417MetfsX14, induced more GFAP aggregates than did three mutant alleles found in adult AxD, p.Ser393Ile, p.Ser398Phe and p.Ser398Tyr [42]. Of course, this notion warrants further comprehensive investigation."}