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Perspectives in the investigation of cockayne syndrome group b neurological disease: the utility of patient-derived brain organoid models
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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): .
@article{title="Perspectives in the investigation of cockayne syndrome group b neurological disease: the utility of patient-derived brain organoid models",
author="Xintai WANG, Rui ZHENG, Marina DUKHINOVA, Luxi WANG, Ying SHEN Zhijie LIN",
journal="Journal of Zhejiang University Science B",
volume="-1",
number="-1",
pages="",
year="1998",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B2300712"
}
%0 Journal Article
%T Perspectives in the investigation of cockayne syndrome group b neurological disease: the utility of patient-derived brain organoid models
%A Xintai WANG
%A Rui ZHENG
%A Marina DUKHINOVA
%A Luxi WANG
%A Ying SHEN Zhijie LIN
%J Journal of Zhejiang University SCIENCE B
%V -1
%N -1
%P
%@ 1673-1581
%D 1998
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B2300712
TY - JOUR
T1 - Perspectives in the investigation of cockayne syndrome group b neurological disease: the utility of patient-derived brain organoid models
A1 - Xintai WANG
A1 - Rui ZHENG
A1 - Marina DUKHINOVA
A1 - Luxi WANG
A1 - Ying SHEN Zhijie LIN
J0 - Journal of Zhejiang University Science B
VL - -1
IS - -1
SP -
EP -
%@ 1673-1581
Y1 - 1998
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B2300712
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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