Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy (DRPLA). The normal function of atrophin-1 is unknown. We have identified five atrophin-1 interacting proteins (AIPs) which bind to atrophin-1 in the vicinity of the polyglutamine tract using the yeast two-hybrid system. Four of the interactions were confirmed using in vitro binding assays. All five interactors contained multiple WW domains. Two are novel. The AIPs can be divided into two distinct classes. AIP1 and AIP3/WWP3 are MAGUK-like multidomain proteins containing a number of protein-protein interaction modules, namely a guanylate kinase-like region, two WW domains, and multiple PDZ domains. AIP2/WWP2, AIP4, and AIP5/WWP1 are highly homologous, each having four WW domains and a HECT domain characteristic of ubiquitin ligases. These interactors are similar to recently isolated huntingtin-interacting proteins, suggesting possible commonality of function between two proteins responsible for very similar diseases.
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- Dentatorubral-pallidoluysian atrophy (DRPLA) is a neurodegenerative disease characterized by symptoms like ataxia, dementia, and epilepsy, caused by an expansion of CAG repeats in the ATROPHIN 1 (ATN1) gene.
- Researchers developed Drosophila (fruit fly) models that express either normal ATN1 (Q7) or a pathogenic version with expanded repeats (Q88), revealing that the pathogenic variant significantly reduces fly motility, lifespan, and affects internal structures more severely than the normal version.
- RNA sequencing identified pathways related to protein quality control that are altered by pathogenic ATN1, and subsequent genetic experiments highlighted the
Dentatorubral-pallidoluysian atrophy: a case report and review of literature.
J Med Case Rep
September 2024
The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.
Background: Dentatorubral-pallidoluysian atrophy is a rare autosomal dominant neurodegenerative disease. It is a rare disease in the world. Therefore, sharing clinical encounters of this case can deepen global awareness and understanding of the disease.
View Article and Find Full Text PDFOverexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients.
Gene
December 2024
Department of Neurology, the Affiliated Hospital of Capital Institute of Pediatrics, Beijing, China. Electronic address:
Objective: Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disease caused by CAG overexpansion (≥48 tandem copies) in ATN1. The aim of this research was to explore the genetic cause of a large Chinese DRPLA pedigree and to review the characteristics of Chinese DRPLA patients.
Methods: Suspected variants were screened by high-throughput sequencing.
Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea.
Pract Neurol
January 2025
Post Graduate Institute of Medical Education and Research, Chandigarh, India.
A 34-year-old woman presented with insidious onset and gradually progressive cerebellar ataxia over 10 years, with generalised convulsions. On examination, there were myoclonic jerks, choreiform movements and cerebellar syndrome. Her family history suggested an autosomal dominant inheritance with anticipation.
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