Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription
Experimental & Molecular Medicine
;
: e21-2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-159137
ABSTRACT
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. The TCF4 gene is also a risk factor with highly significant linkage to schizophrenia, presumably via overexpression of the TCF4 gene product in the central nervous system. This review will present an overview of the clinical manifestations of PTHS and relate those clinical attributes to the underlying molecular genetics of TCF4. In order to provide a molecular biological context for the loss of function of TCF4 in PTHS, the review will also present a brief overview of the basic biochemistry of TCF4-mediated regulation of cellular and neuronal gene expression. In the final section of this review, I will discuss and speculate upon possible roles for the TCF4 transcription factor in neuronal function and comment upon how understanding these roles may give new insights into the molecular neurobiology of human cognition.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Transcrição Gênica
/
Fácies
/
Modelos Animais de Doenças
/
Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos
/
Hiperventilação
/
Deficiência Intelectual
/
Neurônios
Tipo de estudo:
Estudo prognóstico
/
Fatores de risco
Limite:
Animais
/
Humanos
Idioma:
Inglês
Revista:
Experimental & Molecular Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo
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