Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease
المؤلفون المشاركون
Biagioni, Francesca
Fornai, Francesco
Giardina, Emiliano
Zampatti, Stefania
Ruggieri, Stefano
Ferese, Rosangela
Modugno, Nicola
Gambardella, Stefano
Centonze, Diego
Scala, Simona
Carboni, Stefania
Fabbiano, Francesco
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-06-21
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Deletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early-onset Parkinson’s disease (EOPD).
To date, all patients reported with 22q11.2 deletions and parkinsonian features are negative for a family history of PD, and possible mutations in PD-related genes were not properly evaluated.
The goal of this paper was to identify variants in PD genes that could contribute, together with 22q11.2 del, to the onset of parkinsonian features in patients affected by Di George syndrome.
To this aim, sequencing analysis of 4800 genes including 17 PD-related genes was performed in a patient affected by DGs and EOPD.
The analysis identified mutation p.Gly399Ser in OMI/HTRA2 (PARK13).
To date, the mechanism that links DGs with parkinsonian features is poorly understood.
The identification of a mutation in a PARK gene suggests that variants in PD-related genes, or in genes still not associated with PD, could contribute, together with deletion at 22q11.2, to the EOPD in patients affected by DGs.
Further genetic analyses in a large number of patients are strongly required to understand this mechanism and to establish the pathogenetic role of p.Gly399Ser in OMI/HTRA2.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Gambardella, Stefano& Ferese, Rosangela& Scala, Simona& Carboni, Stefania& Biagioni, Francesca& Giardina, Emiliano…[et al.]. 2018. Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease. Parkinson’s Disease،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1212470
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Gambardella, Stefano…[et al.]. Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease. Parkinson’s Disease No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1212470
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Gambardella, Stefano& Ferese, Rosangela& Scala, Simona& Carboni, Stefania& Biagioni, Francesca& Giardina, Emiliano…[et al.]. Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease. Parkinson’s Disease. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1212470
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1212470
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر