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本文引用的文献

1
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.RPGRIP1L 基因的功能降低,该基因位于与 FTO 基因临近的纤毛内,可导致小鼠肥胖。
Cell Metab. 2014 May 6;19(5):767-79. doi: 10.1016/j.cmet.2014.04.009.
2
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.NPHP1 基因座的反复 CNVs 和 SNVs 导致 Bardet-Biedl 综合征的致病等位基因。
Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17.
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Leptin-promoted cilia assembly is critical for normal energy balance.瘦素促进纤毛组装对于正常的能量平衡至关重要。
J Clin Invest. 2014 May;124(5):2193-7. doi: 10.1172/JCI69395. Epub 2014 Mar 25.
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Quantifying missing heritability at known GWAS loci.量化已知 GWAS 位点的遗传缺失。
PLoS Genet. 2013;9(12):e1003993. doi: 10.1371/journal.pgen.1003993. Epub 2013 Dec 26.
5
Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia.神经肽Y家族受体通过巴德-比德尔综合征途径在神经元初级纤毛中进行信号传导。
Cell Rep. 2013 Dec 12;5(5):1316-29. doi: 10.1016/j.celrep.2013.11.011. Epub 2013 Dec 5.
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Primary cilia in neurodevelopmental disorders.神经发育障碍中的原发性纤毛。
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7
Histone deacetylase 6-mediated selective autophagy regulates COPD-associated cilia dysfunction.组蛋白去乙酰化酶 6 介导的选择性自噬调节 COPD 相关纤毛功能障碍。
J Clin Invest. 2013 Dec;123(12):5212-30. doi: 10.1172/JCI69636. Epub 2013 Nov 8.
8
Hypothalamic WNT signalling is impaired during obesity and reinstated by leptin treatment in male mice.肥胖症期间下丘脑 WNT 信号转导受损,而瘦素治疗可恢复雄性小鼠的该信号转导。
Endocrinology. 2013 Dec;154(12):4737-45. doi: 10.1210/en.2013-1746. Epub 2013 Oct 8.
9
Roles of cilia, fluid flow, and Ca2+ signaling in breaking of left-right symmetry.纤毛、流体流动和 Ca2+信号在打破左右对称性中的作用。
Trends Genet. 2014 Jan;30(1):10-7. doi: 10.1016/j.tig.2013.09.001. Epub 2013 Sep 30.
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Functional interaction between autophagy and ciliogenesis.自噬与纤毛发生的功能相互作用。
Nature. 2013 Oct 10;502(7470):194-200. doi: 10.1038/nature12639. Epub 2013 Oct 2.

通过初级纤毛进行代谢调节和能量稳态维持。

Metabolic regulation and energy homeostasis through the primary Cilium.

作者信息

Oh Edwin C, Vasanth Shivakumar, Katsanis Nicholas

机构信息

Center for Human Disease Modeling, Duke University School of Medicine, Durham, NC 27710, USA.

Center for Human Disease Modeling, Duke University School of Medicine, Durham, NC 27710, USA.

出版信息

Cell Metab. 2015 Jan 6;21(1):21-31. doi: 10.1016/j.cmet.2014.11.019. Epub 2014 Dec 24.

DOI:10.1016/j.cmet.2014.11.019
PMID:25543293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4370781/
Abstract

Obesity and diabetes represent a significant healthcare concern. In contrast to genome-wide association studies that, some exceptions notwithstanding, have offered modest clues about pathomechanism, the dissection of rare disorders in which obesity represents a core feature have highlighted key molecules and structures critical to energy regulation. Here we focus on the primary cilium, an organelle whose roles in energy homeostasis have been underscored by the high incidence of obesity and type II diabetes in patients and mouse mutants with compromised ciliary function. We discuss recent evidence linking ciliary dysfunction to metabolic defects and we explore the contribution of neuronal and nonneuronal cilia to these phenotypes.

摘要

肥胖和糖尿病是重大的医疗保健问题。全基因组关联研究虽然有一些例外情况,但仅提供了关于发病机制的有限线索,而对以肥胖为核心特征的罕见疾病的剖析则突出了对能量调节至关重要的关键分子和结构。在这里,我们聚焦于初级纤毛,这是一种细胞器,在纤毛功能受损的患者和小鼠突变体中,肥胖和II型糖尿病的高发病率凸显了其在能量稳态中的作用。我们讨论了将纤毛功能障碍与代谢缺陷联系起来的最新证据,并探讨了神经元和非神经元纤毛对这些表型的影响。