BICD2相关文献与解析，生知库 | 链接生命科学的每一步

Yang Yunhan, Thomas Laurel, Chen Kun, Villar-Pazos Sabrina, Haffey Wendy D, D'Agostino Andrew, Fanelli Kayleigh, Choi You-Jin, Rathi Vihaan, Matlapudi Maanas S, Greis Kenneth D, Thomas Gary

CD2

BICD2

HDAC6

发表日期：2026

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Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.

BICD2 货物结合域中的显性脊髓性肌萎缩症相关突变导致相互作用组改变和动力蛋白过度活跃。

期刊:Elife

影响因子:6.4

doi:10.7554/eLife.107503

BICD2 promotes ciliogenesis by facilitating CP110 removal from the mother centriole.

BICD2 通过促进 CP110 从母中心粒中移除来促进纤毛发生。

期刊:EMBO Reports

影响因子:6.2

doi:10.1038/s44319-025-00597-0

Kuang Wenjun, Jin Hao, Xie Shanshan, Ou Guangshuo, Zhou Tianhua

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B

胎儿水肿、关节挛缩和小脑发育不全与新生BICD2变异相关：SMALED2B的产前表型扩展

期刊:Prenatal Diagnosis

影响因子:2.7

doi:10.1002/pd.70024

Lepri, Francesca Romana; Graziani, Ludovico; Menale, Lucia; Viggiano, Milena; Bucci, Roberta; Gentile, Angela; Caforio, Leonardo; Novelli, Antonio

Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity

BICD2货物结合域中与显性脊髓性肌萎缩症相关的突变会导致相互作用组改变和动力蛋白过度活跃。

期刊:

影响因子:

doi:10.1101/2025.05.13.653647

Neiswender, Hannah; Pride, Jessica E; Veeranan-Karmegam, Rajalakshmi; Allen, Phylicia; Neiswender, Grace; Prabakar, Avneesh; Hao, Caili; Fan, Xingjun; Gonsalvez, Graydon B

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

先天性关节挛缩和翼状胬肉胎儿中的 BICD2 错义变异

期刊:Human Genome Variation

影响因子:1.3

doi:10.1038/s41439-024-00290-z

Masuda, Layla; Hasegawa, Akihiro; Kamura, Hiromi; Hasegawa, Fuyuki; Yamamura, Michihiro; Taniguchi, Kosuke; Ito, Yuki; Hata, Kenichiro; Samura, Osamu; Okamoto, Aikou

Critical role of VHL/BICD2/STAT1 axis in crystal-associated kidney disease

VHL/BICD2/STAT1轴在晶体相关性肾病中的关键作用

期刊:Cell Death & Disease

影响因子:8.1

doi:10.1038/s41419-023-06185-1

Wenyan Hao ，Hongxian Zhang ，Peng Hong ，Xin Zhang ，Xuyang Zhao ，Lulin Ma ，Xiaoyan Qiu ，Hao Ping ，Dan Lu ，Yuxin Yin

Elevated BICD2 DNA methylation in blood of major depressive disorder patients and reduction of depressive-like behaviors in hippocampal Bicd2-knockdown mice

重度抑郁症患者血液中BICD2 DNA甲基化水平升高，而海马Bicd2敲低小鼠的抑郁样行为减少。

期刊:Proceedings of the National Academy of Sciences of the United States of America

影响因子:9.1

doi:10.1073/pnas.2201967119

Xiu, Jianbo; Li, Jiayu; Liu, Zeyue; Wei, Hui; Zhu, Caiyun; Han, Rongrong; Liu, Zijing; Zhu, Wanwan; Shen, Yan; Xu, Qi

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome

双等位基因BICD2变异是Cohen样综合征的一个新候选基因。

期刊:Journal of Human Genetics

影响因子:2.5

doi:10.1038/s10038-022-01032-1

Caglayan, Ahmet Okay; Tuysuz, Beyhan; Gül, Ece; Alkaya, Dilek Uludag; Yalcinkaya, Cengiz; Gleeson, Joseph G; Bilguvar, Kaya; Gunel, Murat

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia

BICD2基因纯合功能缺失变异与无脑回畸形和小脑发育不全有关

期刊:Journal of Human Genetics

影响因子:2.5

doi:10.1038/s10038-022-01060-x

Abdel-Salam, Ghada M H; Girgis, Marian; Eid, Maha M; Sayed, Inas S M; Abdel-Hamid, Mohamed S

PACS1 syndrome mutation disrupts dynein-mediated cargo transport via HDAC6 and BICD2.

PACS1 综合征突变会破坏通过 HDAC6 和 BICD2 介导的动力蛋白货物运输。

Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.

BICD2 货物结合域中的显性脊髓性肌萎缩症相关突变导致相互作用组改变和动力蛋白过度活跃。

BICD2 promotes ciliogenesis by facilitating CP110 removal from the mother centriole.

BICD2 通过促进 CP110 从母中心粒中移除来促进纤毛发生。

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B

胎儿水肿、关节挛缩和小脑发育不全与新生BICD2变异相关：SMALED2B的产前表型扩展

Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity

BICD2货物结合域中与显性脊髓性肌萎缩症相关的突变会导致相互作用组改变和动力蛋白过度活跃。

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

先天性关节挛缩和翼状胬肉胎儿中的 BICD2 错义变异

Critical role of VHL/BICD2/STAT1 axis in crystal-associated kidney disease

VHL/BICD2/STAT1轴在晶体相关性肾病中的关键作用

Elevated BICD2 DNA methylation in blood of major depressive disorder patients and reduction of depressive-like behaviors in hippocampal Bicd2-knockdown mice

重度抑郁症患者血液中BICD2 DNA甲基化水平升高，而海马Bicd2敲低小鼠的抑郁样行为减少。

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome

双等位基因BICD2变异是Cohen样综合征的一个新候选基因。

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia

BICD2基因纯合功能缺失变异与无脑回畸形和小脑发育不全有关