'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.
'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.
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DOI：
10.1136/jmedgenet-2019-106769
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发表时间：
2020-12
影响因子：
4
通讯作者：
Filges I
中科院分区：
文献类型：
--
作者：
Kalantari S;Filges I
运动驱动蛋白是一个进化保守的蛋白家族，参与细胞内各种货物的运输，首先在轴突运输的背景下描述。它们被发现在细胞周期动力学和进展中具有关键重要性，包括染色体凝聚和排列，纺锤体形成和胞质分裂，以及纤毛发生和纤毛功能。最近的证据表明，驱动蛋白的损伤与各种人类疾病有关，这与它们的功能和进化保守性一致。随着使用全基因组测序方法进行基因鉴定的出现，它们在单基因疾病中的作用现在显现出来，特别是对于出生缺陷，在孤立的以及多个先天性异常中。我们可以观察到反复出现的表型主题，如小头畸形，某些脑异常，肾脏和泌尿道异常，以及令人联想到纤毛病的综合征表型。结合分子和功能数据，我们建议将这些“驱动蛋白病”理解为具有研究方法和临床护理潜在价值的可识别实体。
Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal transport. They were discovered to have a key importance in cell-cycle dynamics and progression, including chromosomal condensation and alignment, spindle formation and cytokinesis, as well as ciliogenesis and cilia function. Recent evidence suggests that impairment of kinesins is associated with a variety of human diseases consistent with their functions and evolutionary conservation. Through the advent of gene identification using genome-wide sequencing approaches, their role in monogenic disorders now emerges, particularly for birth defects, in isolated as well as multiple congenital anomalies. We can observe recurrent phenotypical themes such as microcephaly, certain brain anomalies, and anomalies of the kidney and urinary tract, as well as syndromic phenotypes reminiscent of ciliopathies. Together with the molecular and functional data, we suggest understanding these ‘kinesinopathies’ as a recognisable entity with potential value for research approaches and clinical care.
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DOI：
10.1093/brain/awx370
发表时间：
2018-03-01
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Brenner D;Yilmaz R;Müller K;Grehl T;Petri S;Meyer T;Grosskreutz J;Weydt P;Ruf W;Neuwirth C;Weber M;Pinto S;Claeys KG;Schrank B;Jordan B;Knehr A;Günther K;Hübers A;Zeller D;Kubisch C;Jablonka S;Sendtner M;Klopstock T;de Carvalho M;Sperfeld A;Borck G;Volk AE;Dorst J;Weis J;Otto M;Schuster J;Del Tredici K;Braak H;Danzer KM;Freischmidt A;Meitinger T;Strom TM;Ludolph AC;Andersen PM;Weishaupt JH;German ALS network MND-NET
通讯作者：
German ALS network MND-NET
影响因子：
3.7
作者：
Fujikura K;Setsu T;Tanigaki K;Abe T;Kiyonari H;Terashima T;Sakisaka T
通讯作者：
Sakisaka T
DOI：
10.1083/jcb.200511061
发表时间：
2006-01-30
期刊：
The Journal of cell biology
影响因子：
--
作者：
Gruneberg U;Neef R;Li X;Chan EH;Chalamalasetty RB;Nigg EA;Barr FA
通讯作者：
Barr FA
影响因子：
3.5
作者：
Dimassi, S.;Labalme, A.;Lesca, G.
通讯作者：
Lesca, G.
影响因子：
2
作者：
Alsahli, Saud;Arold, Stefan T.;Alfadhel, Majid
通讯作者：
Alfadhel, Majid