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Journal of Zhejiang University SCIENCE B 1998 Vol.-1 No.-1 P.

http://doi.org/10.1631/jzus.B2300712


Perspectives in the investigation of cockayne syndrome group b neurological disease: the utility of patient-derived brain organoid models


Author(s):  Xintai WANG, Rui ZHENG, Marina DUKHINOVA, Luxi WANG, Ying SHEN Zhijie LIN

Affiliation(s):  Zhejiang Key Laboratory of Organ Development and Regeneration, Institute of Life Sciences, Hangzhou Normal University, Hangzhou 310000, China; more

Corresponding email(s):   linzj@hznu.edu.cn, yshen@zju.edu.cn

Key Words:  Cockayne syndrome, CSB, Neurological function, Cerebellum, Organoids


Xintai WANG, Rui ZHENG, Marina DUKHINOVA, Luxi WANG, Ying SHEN Zhijie LIN. Perspectives in the investigation of cockayne syndrome group b neurological disease: the utility of patient-derived brain organoid models[J]. Journal of Zhejiang University Science B, 1998, -1(-1): .

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%A Marina DUKHINOVA
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%A Ying SHEN Zhijie LIN
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A1 - Ying SHEN Zhijie LIN
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Abstract: 
cockayne syndrome (CS) group B, which results from mutations in the ERCC6 genes (produces CSB protein), is an autosomal recessive disease characterized by multiple progressive disorders including growth failure, microcephaly, skin photosensitivity, and premature aging. Clinical data show that brain atrophy, demyelination and calcification are the main neurological manifestations of CS, which progress with time. Neuronal loss and calcification occur in various brain areas, particularly the cerebellum and basal ganglia, resulting in dyskinesia, ataxia and limb tremors in cockayne syndrome group B patients. However, the understanding of neurodevelopmental defects in cockayne syndrome has been constrained by the lack of significant neurodevelopmental and functional abnormalities observed in CSB deficient mice. In this review, we focus on elucidating the protein structure and distribution of CSB and delve into the impact of CSB mutations on the development and function of the nervous system. In addition, we provide an overview of research models that have been instrumental in exploring CS disorders, with a forward-looking perspective on the substantial contributions that brain organoids are poised to make to further advance this field.

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