2005
DOI: 10.1111/j.1471-4159.2004.02924.x
|View full text |Cite
|
Sign up to set email alerts
|

A gene‐targeted mouse model for chorea‐acanthocytosis

Abstract: Chorea-acanthocytosis (CHAC) is a hereditary neurodegenerative disorder with autosomal recessive transmission, in which selective degeneration of striatum has been reported in brain pathology. Clinically, CHAC shows Huntington's disease-like neuropsychiatric symptoms and red blood cell acanthocytosis. Recently, we identified the gene, CHAC, encoding a novel protein, chorein, in which a deletion mutation was found in Japanese families with CHAC. In the present study, we have identified the mouse CHAC cDNA seque… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
4

Citation Types

0
53
0
1

Year Published

2007
2007
2024
2024

Publication Types

Select...
9

Relationship

1
8

Authors

Journals

citations
Cited by 56 publications
(54 citation statements)
references
References 16 publications
0
53
0
1
Order By: Relevance
“…Clinically overt disease develops at an age between 30 and 70 years and progresses to disability and premature death [10]. The lack of chorein action in ChAc leads to disappearance of cortical actin filaments in erythrocytes and thus to the spectacular erythrocyte shape change of acanthocytosis [3,11]. Chorein is further expressed and modifies actin polymerization in blood platelets [12].…”
Section: Introductionmentioning
confidence: 99%
“…Clinically overt disease develops at an age between 30 and 70 years and progresses to disability and premature death [10]. The lack of chorein action in ChAc leads to disappearance of cortical actin filaments in erythrocytes and thus to the spectacular erythrocyte shape change of acanthocytosis [3,11]. Chorein is further expressed and modifies actin polymerization in blood platelets [12].…”
Section: Introductionmentioning
confidence: 99%
“…Mutations in the human VPS13B gene also result in an autosomal recessive disorder, Cohen syndrome, with neurological symptoms (22). Finally, mice with a mutation in the homologue of human VPS13A have been generated, mimicking some features of ChAc, particularly in old age (44).…”
mentioning
confidence: 99%
“…In erythrocytes from ChAc patients the lack of chorein leads to almost complete disappearance of the cortical actin filaments network and thus to the spectacular erythrocyte shape change of acanthocytosis [1,16]. Chorein is further expressed in K562 cells [1], blood platelets [17], human umbilical vein endothelial cells (HUVECs) [18] and some tumor cells [5].…”
Section: Introductionmentioning
confidence: 99%
“…The analysis was performed in cells isolated from chorea-acanthocytosis patients expressing defective chorein levels. The cell types chosen were erythrocytes, which are known to virtually lack cortical actin and are highly deformed [1,16], and fibroblasts, which could be cultured ex vivo following isolation from patients and healthy volunteers and are considered a particularly appropriate cell type for the detailed study of cytoskeletal reorganization and signaling [33,34,35]. Our findings provide evidence that chorein deficiency influences the organization of all three cytoskeletal structures, implying a role of this protein in the maintenance of cytoskeleton integrity.…”
Section: Introductionmentioning
confidence: 99%