| Title |
Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson’s Disease
|
|---|---|
| Published in |
Molecular Neurobiology, March 2016
|
| DOI | 10.1007/s12035-016-9861-y |
| Pubmed ID | |
| Authors |
Xin Wang, Nuomin Li, Nian Xiong, Qi You, Jie Li, Jinlong Yu, Hong Qing, Tao Wang, Heather J. Cordell, Ole Isacson, Jeffery M. Vance, Eden R. Martin, Ying Zhao, Bruce M. Cohen, Edgar A. Buttner, Zhicheng Lin |
| Abstract |
The cytoskeleton not only provides structure, it is an active component of cell function, and in several neurodegenerative disorders, there is evidence of cytoskeletal collapse. Cytoskeletal proteins have been specifically implicated in the pathogenesis of Parkinson's disease (PD), where degeneration of dopaminergic (DA) neurons is the hallmark, but in which many factors may determine the resilience of DA neurons during aging and stress. Here we report that the human Microtubule Actin Cross-linking Factor 1 gene (MACF1), a downstream target of PD biochemical pathways, was significantly associated with PD in 713 nuclear families. A significant allelic association between PD and rs12118033, with P = 0.0098, was observed, and a P < 0.03 was observed in the association analysis by both a trend test and an allelic test. We further observed that it is the MACF1b isoform, not the MACF1a isoform, which is expressed in DA neurons from six human postmortem brains. In a Caenorhabditis elegans system, used to explore the effect of altered MACF1b on neurons, knockdown or knockout of the MACF1b orthologue vab-10 resulted in the selective loss of DA neurons, which validated MACF1's risk candidacy in PD. These findings strongly suggest that MACF1b may contribute to the genetic etiology and mechanistic causation of PD. |
X Demographics
The data shown below were collected from the profiles of 10 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 4 | 40% |
| United States | 2 | 20% |
| Canada | 1 | 10% |
| Unknown | 3 | 30% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 9 | 90% |
| Scientists | 1 | 10% |
Mendeley readers
The data shown below were compiled from readership statistics for 46 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 46 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 8 | 17% |
| Student > Ph. D. Student | 7 | 15% |
| Researcher | 6 | 13% |
| Student > Doctoral Student | 5 | 11% |
| Student > Bachelor | 4 | 9% |
| Other | 6 | 13% |
| Unknown | 10 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 17% |
| Agricultural and Biological Sciences | 7 | 15% |
| Neuroscience | 6 | 13% |
| Psychology | 3 | 7% |
| Medicine and Dentistry | 3 | 7% |
| Other | 7 | 15% |
| Unknown | 12 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 13. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 July 2017.
All research outputs
#2,345,305
of 22,858,915 outputs
Outputs from Molecular Neurobiology
#268
of 3,461 outputs
Outputs of similar age
#40,490
of 301,265 outputs
Outputs of similar age from Molecular Neurobiology
#10
of 117 outputs
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We're also able to compare this research output to 117 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 91% of its contemporaries.