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CAD Deficiency-Another Treatable Early Infantile Epileptic Encephalopathy.

作者信息

Kamate Mahesh, Patil Supriya

机构信息

Division of Pediatric Neurology and Child Development Centre, KAHER's J N Medical College, Belgaum, Karnataka, India.

Department of Pediatrics, KAHER's J N Medical College, Belgaum, Karnataka, India.

出版信息

Pediatr Neurol. 2020 Sep;110:97-98. doi: 10.1016/j.pediatrneurol.2020.05.001. Epub 2020 May 21.

DOI:10.1016/j.pediatrneurol.2020.05.001

PMID:32654958

Abstract

摘要

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Heat sensitivity and Sp1 activation of complex formation at the Syrian hamster carbamoyl-phosphate synthase (glutamine-hydrolyzing)/aspartate carbamoyltransferase/dihydroorotase promoter in vitro.

J Biol Chem. 1992 Jan 5;267(1):385-91.

Rheb protein binds CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamoylase, and dihydroorotase) protein in a GTP- and effector domain-dependent manner and influences its cellular localization and carbamoyl-phosphate synthetase (CPSase) activity.

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Functional linkage between the glutaminase and synthetase domains of carbamoyl-phosphate synthetase. Role of serine 44 in carbamoyl-phosphate synthetase-aspartate carbamoyltransferase-dihydroorotase (cad).

J Biol Chem. 1999 Oct 1;274(40):28240-5. doi: 10.1074/jbc.274.40.28240.

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CAD Deficiency-Another Treatable Early Infantile Epileptic Encephalopathy.

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