A hypothesis that proposes that defects in PHD2 and PHD3 function may be causal of the symptoms of schizopnrenia. - Couverture souple

Neville, John

 
9780244516628: A hypothesis that proposes that defects in PHD2 and PHD3 function may be causal of the symptoms of schizopnrenia.
Couverture souple
ISBN 10 : 0244516626 ISBN 13 : 9780244516628
Editeur : Lulu.com, 2019

Synopsis

A defect in the coactivation of HIF1 by PKM2 and PHD3 has been implicated in a familial disorder which can cause autoinflammatory symptoms, connective tissue symptoms and psychosis. It has also been pointed out that a majority of predicted target genes of HIF1 are associated with schizopnrenia, or have altered function or expression in schizopnrenia. PHD2 and PHD3 both regulate HIF1a. Here it is noted that PHD2 (EGLN1) is located at 1q42.2, very close to the location of DISC1 and DISC2, whilst PHD3 (EGLN3) is located at 14q13.1, very close to the location of NPAS3. The disruption of DISC1 and DISC2 genes by a translocation co-segregating with familial schizopnrenia is well known. A mutation in NPAS3 also segregates with schizophrenia in a small family. This raises the interesting possibility that defective PHD2 and PHD3 function could be causal of the symptoms of schizopnrenia.

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Éditeur
Lulu.com
Date d'édition
2019
Langue
anglais
ISBN 10 
0244516626
ISBN 13 
9780244516628
Reliure
Paperback
Nombre de pages
42
Coordonnées du fabricant
non disponible
Personne responsable
non disponible