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Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2
المؤلفون المشاركون
Alexov, Emil
Kucukkal, Tugba G.
المصدر
Computational and Mathematical Methods in Medicine
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-04-05
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
Rett Syndrome (RTT) is a progressive neurodevelopmental disease affecting females.
RTT is caused by mutations in the MECP2 gene and various amino acid substitutions have been identified clinically in different domains of the multifunctional MeCP2 protein encoded by this gene.
The R133C variant in the methylated-CpG-binding domain (MBD) of MeCP2 is the second most common disease-causing mutation in the MBD.
Comparative molecular dynamics simulations of R133C mutant and wild-type MBD have been performed to understand the impact of the mutation on structure, dynamics, and interactions of the protein and subsequently understand the disease mechanism.
Two salt bridges within the protein and two critical hydrogen bonds between the protein and DNA are lost upon the R133C mutation.
The mutation was found to weaken the interaction with DNA and also cause loss of helicity within the 141-144 region.
The structural, dynamical, and energetical consequences of R133C mutation were investigated in detail at the atomic resolution.
Several important implications of this have been shown regarding protein stability and hydration dynamics as well as its interaction with DNA.
The results are in agreement with previous experimental studies and further provide atomic level understanding of the molecular origin of RTT associated with R133C variant.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Kucukkal, Tugba G.& Alexov, Emil. 2015. Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2. Computational and Mathematical Methods in Medicine،Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1057986
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Kucukkal, Tugba G.& Alexov, Emil. Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2. Computational and Mathematical Methods in Medicine No. 2015 (2015), pp.1-9.
https://search.emarefa.net/detail/BIM-1057986
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Kucukkal, Tugba G.& Alexov, Emil. Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2. Computational and Mathematical Methods in Medicine. 2015. Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1057986
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1057986
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