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Autism and the Scaffolding Protein Neurobeachin

المؤلفMohammed, Sawsan
المؤلفQoronfleh, M. Walid
تاريخ الإتاحة2023-05-10T10:58:49Z
تاريخ النشر2022-01
اسم المنشورProteins Associated with Neurodevelopmental Disorders
المعرّفhttp://dx.doi.org/10.1007/978-981-15-9781-7_11
الاقتباسMohammed, S., Qoronfleh, M.W. (2022). Autism and the Scaffolding Protein Neurobeachin. In: Qoronfleh, M.W., Essa, M.M., Saravana Babu, C. (eds) Proteins Associated with Neurodevelopmental Disorders. Nutritional Neurosciences. Springer, Singapore. https://doi.org/10.1007/978-981-15-9781-7_11
الترقيم الدولي الموحد للكتاب 978-981-15-9780-0
معرّف المصادر الموحدhttp://hdl.handle.net/10576/42568
الملخصAutism is a group of early onsets, diverse, lifelong, neurodevelopmental conditions that affect social interaction, verbal and non-verbal communications as well as behavior. It is a multifactorial condition, which results from the interaction of environmental and genetic factors. A number of proteins are identified as autism related proteins such as Neurobeachin (NBEA), a scaffolding protein belonging to BEACH domain containing proteins (BDCPs), a family of proteins found in all eukaryotes. Humans BDCPs family includes nine proteins that share the characteristic of containing BEACH and WD repeats domains. Mutation of each one of the genes encoding these proteins leads to distinct disease condition. NBEA mutation includes deletion, translocation, inversion or duplication and is associated to autism spectrum disorder (ASD).
اللغةen
الناشرSpringer
الموضوعAutism
ASD
Neurobeachin
Scaffolding Protein
Membrane protein trafficking
Neuronal junction
Synapses
Neural development
العنوانAutism and the Scaffolding Protein Neurobeachin
النوعBook chapter
الصفحات277-289
الترقيم الدولي الموحد للكتاب (إلكتروني) 978-981-15-9781-7


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