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A Plasma Proteomic Approach in Rett Syndrome : Classical versus Preserved Speech Variant
المؤلفون المشاركون
Guerranti, Roberto
De Felice, Claudio
Hayek, Joussef
Pecorelli, Alessandra
Leoncini, Silvia
Sticozzi, Claudia
Landi, Claudia
Cortelazzo, Alessio
Bini, Luca
Signorini, Cinzia
Ciccoli, Lucia
Montomoli, Barbara
Giuseppe, Valacchi
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-10، 10ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-12-23
دولة النشر
مصر
عدد الصفحات
10
التخصصات الرئيسية
الملخص EN
Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2).
Although over 200 mutations types have been identified so far, nine of which the most frequent ones.
A wide phenotypical heterogeneity is a well-known feature of the disease, with different clinical presentations, including the classical form and the preserved speech variant (PSV).
Aim of the study was to unveil possible relationships between plasma proteome and phenotypic expression in two cases of familial RTT represented by two pairs of sisters, harbor the same MECP2 gene mutation while being dramatically discrepant in phenotype, that is, classical RTT versus PSV.
Plasma proteome was analysed by 2-DE/MALDI-TOF MS.
A significant overexpression of six proteins in the classical sisters was detected as compared to the PSV siblings.
A total of five out of six (i.e., 83.3%) of the overexpressed proteins were well-known acute phase response (APR) proteins, including alpha-1-microglobulin, haptoglobin, fibrinogen beta chain, alpha-1-antitrypsin, and complement C3.
Therefore, the examined RTT siblings pairs proved to be an important benchmark model to test the molecular basis of phenotypical expression variability and to identify potential therapeutic targets of the disease.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Cortelazzo, Alessio& Guerranti, Roberto& De Felice, Claudio& Signorini, Cinzia& Leoncini, Silvia& Pecorelli, Alessandra…[et al.]. 2013. A Plasma Proteomic Approach in Rett Syndrome : Classical versus Preserved Speech Variant. Mediators of Inflammation،Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-472368
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Cortelazzo, Alessio…[et al.]. A Plasma Proteomic Approach in Rett Syndrome : Classical versus Preserved Speech Variant. Mediators of Inflammation No. 2013 (2013), pp.1-10.
https://search.emarefa.net/detail/BIM-472368
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Cortelazzo, Alessio& Guerranti, Roberto& De Felice, Claudio& Signorini, Cinzia& Leoncini, Silvia& Pecorelli, Alessandra…[et al.]. A Plasma Proteomic Approach in Rett Syndrome : Classical versus Preserved Speech Variant. Mediators of Inflammation. 2013. Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-472368
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-472368
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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