Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization

Nucleolin (NCL/C23; OMIM: 164035) is a major nucleolar protein that plays a critical role in multiple processes, including ribosome assembly and maturation, chromatin decondensation, and pre-rRNA transcription. Due to its diverse functions, nucleolin has frequently been implicated in pathological pr...

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Bibliographic Details
Main Authors: Ayub, M. (Author), Ghadami, M. (Author), Harripaul, R. (Author), Santangelo, S.L (Author), Sasanfar, R. (Author), Sheikh, T.I (Author), Vasli, N. (Author), Vincent, J.B (Author)
Format: Article
Language:English
Published: MDPI 2022
Subjects:
autism
Autism Spectrum Disorder
Autism spectrum disorder (ASD)
C23
Cell Nucleolus
GAR domain
genetics
HEK293 cell line
HEK293 Cells
heterozygote
Heterozygote
human
Humans
male
Male
metabolism
mutation
Mutation
Nucleolar localization signal
nucleolin
Nucleolin
nucleolus
pathology
phosphoprotein
Phosphoproteins
RNA binding protein
RNA-Binding Proteins
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