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AuthorMohammed, Sawsan
AuthorQoronfleh, M. Walid
Available date2023-05-10T10:58:49Z
Publication Date2022-01
Publication NameProteins Associated with Neurodevelopmental Disorders
Identifierhttp://dx.doi.org/10.1007/978-981-15-9781-7_11
CitationMohammed, 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
ISBN978-981-15-9780-0
URIhttp://hdl.handle.net/10576/42568
AbstractAutism 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).
Languageen
PublisherSpringer
SubjectAutism
ASD
Neurobeachin
Scaffolding Protein
Membrane protein trafficking
Neuronal junction
Synapses
Neural development
TitleAutism and the Scaffolding Protein Neurobeachin
TypeBook chapter
Pagination277-289
EISBN978-981-15-9781-7
dc.accessType Abstract Only


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