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PMID |
Sentence |
1 |
17846994
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A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
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2 |
17846994
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A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS).
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3 |
17846994
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It had been shown that these families did not have mutations in the WFS1 gene (WFS1) but were mapped to the WFS2 locus at 4q22-25.
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4 |
17846994
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The ZCD2-encoded protein, ERIS (endoplasmic reticulum intermembrane small protein), is also shown to localize to the endoplasmic reticulum but does not interact directly with Wolframin.
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5 |
17846994
|
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
|
6 |
17846994
|
A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS).
|
7 |
17846994
|
It had been shown that these families did not have mutations in the WFS1 gene (WFS1) but were mapped to the WFS2 locus at 4q22-25.
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8 |
17846994
|
The ZCD2-encoded protein, ERIS (endoplasmic reticulum intermembrane small protein), is also shown to localize to the endoplasmic reticulum but does not interact directly with Wolframin.
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9 |
17846994
|
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
|
10 |
17846994
|
A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS).
|
11 |
17846994
|
It had been shown that these families did not have mutations in the WFS1 gene (WFS1) but were mapped to the WFS2 locus at 4q22-25.
|
12 |
17846994
|
The ZCD2-encoded protein, ERIS (endoplasmic reticulum intermembrane small protein), is also shown to localize to the endoplasmic reticulum but does not interact directly with Wolframin.
|
13 |
17846994
|
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
|
14 |
17846994
|
A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS).
|
15 |
17846994
|
It had been shown that these families did not have mutations in the WFS1 gene (WFS1) but were mapped to the WFS2 locus at 4q22-25.
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16 |
17846994
|
The ZCD2-encoded protein, ERIS (endoplasmic reticulum intermembrane small protein), is also shown to localize to the endoplasmic reticulum but does not interact directly with Wolframin.
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17 |
19451219
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CISD2, the causative gene for Wolfram syndrome 2 (WFS2), is a previously uncharacterized novel gene.
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18 |
19451219
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Additionally, our Cisd2 knockout mouse work provides strong evidence supporting an earlier clinical hypothesis that WFS is in part a mitochondria-mediated disorder; specifically, we propose that mutation of CISD2 causes the mitochondria-mediated disorder WFS2 in humans.
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19 |
19451219
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Thus, this mutant mouse provides an animal model for mechanistic investigation of Cisd2 protein function and help with a pathophysiological understanding of WFS2.
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20 |
19451219
|
CISD2, the causative gene for Wolfram syndrome 2 (WFS2), is a previously uncharacterized novel gene.
|
21 |
19451219
|
Additionally, our Cisd2 knockout mouse work provides strong evidence supporting an earlier clinical hypothesis that WFS is in part a mitochondria-mediated disorder; specifically, we propose that mutation of CISD2 causes the mitochondria-mediated disorder WFS2 in humans.
|
22 |
19451219
|
Thus, this mutant mouse provides an animal model for mechanistic investigation of Cisd2 protein function and help with a pathophysiological understanding of WFS2.
|
23 |
19451219
|
CISD2, the causative gene for Wolfram syndrome 2 (WFS2), is a previously uncharacterized novel gene.
|
24 |
19451219
|
Additionally, our Cisd2 knockout mouse work provides strong evidence supporting an earlier clinical hypothesis that WFS is in part a mitochondria-mediated disorder; specifically, we propose that mutation of CISD2 causes the mitochondria-mediated disorder WFS2 in humans.
|
25 |
19451219
|
Thus, this mutant mouse provides an animal model for mechanistic investigation of Cisd2 protein function and help with a pathophysiological understanding of WFS2.
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26 |
19580816
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Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2.
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27 |
19580816
|
Mis-splicing of CISD2, which codes for Miner1, is causative in Wolfram Syndrome 2 (WFS2) resulting in early onset optic atrophy, diabetes mellitus, deafness and decreased lifespan.
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28 |
19580816
|
Although originally annotated as a zinc finger, we show that Miner1 is a homodimer harboring two redox-active 2Fe-2S clusters, indicating for the first time an association of a redox-active FeS protein with WFS2.
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29 |
19580816
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Miner1 is the first functionally different protein that shares the NEET fold with its recently identified paralog mitoNEET, an outer mitochondrial membrane protein.
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30 |
19580816
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We report the first measurement of the redox potentials (E(m)) of Miner1 and mitoNEET, showing that they are proton-coupled with E(m) approximately 0 mV at pH 7.5.
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31 |
19580816
|
Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2.
|
32 |
19580816
|
Mis-splicing of CISD2, which codes for Miner1, is causative in Wolfram Syndrome 2 (WFS2) resulting in early onset optic atrophy, diabetes mellitus, deafness and decreased lifespan.
|
33 |
19580816
|
Although originally annotated as a zinc finger, we show that Miner1 is a homodimer harboring two redox-active 2Fe-2S clusters, indicating for the first time an association of a redox-active FeS protein with WFS2.
|
34 |
19580816
|
Miner1 is the first functionally different protein that shares the NEET fold with its recently identified paralog mitoNEET, an outer mitochondrial membrane protein.
|
35 |
19580816
|
We report the first measurement of the redox potentials (E(m)) of Miner1 and mitoNEET, showing that they are proton-coupled with E(m) approximately 0 mV at pH 7.5.
|
36 |
19580816
|
Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2.
|
37 |
19580816
|
Mis-splicing of CISD2, which codes for Miner1, is causative in Wolfram Syndrome 2 (WFS2) resulting in early onset optic atrophy, diabetes mellitus, deafness and decreased lifespan.
|
38 |
19580816
|
Although originally annotated as a zinc finger, we show that Miner1 is a homodimer harboring two redox-active 2Fe-2S clusters, indicating for the first time an association of a redox-active FeS protein with WFS2.
|
39 |
19580816
|
Miner1 is the first functionally different protein that shares the NEET fold with its recently identified paralog mitoNEET, an outer mitochondrial membrane protein.
|
40 |
19580816
|
We report the first measurement of the redox potentials (E(m)) of Miner1 and mitoNEET, showing that they are proton-coupled with E(m) approximately 0 mV at pH 7.5.
|
41 |
19580816
|
Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2.
|
42 |
19580816
|
Mis-splicing of CISD2, which codes for Miner1, is causative in Wolfram Syndrome 2 (WFS2) resulting in early onset optic atrophy, diabetes mellitus, deafness and decreased lifespan.
|
43 |
19580816
|
Although originally annotated as a zinc finger, we show that Miner1 is a homodimer harboring two redox-active 2Fe-2S clusters, indicating for the first time an association of a redox-active FeS protein with WFS2.
|
44 |
19580816
|
Miner1 is the first functionally different protein that shares the NEET fold with its recently identified paralog mitoNEET, an outer mitochondrial membrane protein.
|
45 |
19580816
|
We report the first measurement of the redox potentials (E(m)) of Miner1 and mitoNEET, showing that they are proton-coupled with E(m) approximately 0 mV at pH 7.5.
|
46 |
19580816
|
Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2.
|
47 |
19580816
|
Mis-splicing of CISD2, which codes for Miner1, is causative in Wolfram Syndrome 2 (WFS2) resulting in early onset optic atrophy, diabetes mellitus, deafness and decreased lifespan.
|
48 |
19580816
|
Although originally annotated as a zinc finger, we show that Miner1 is a homodimer harboring two redox-active 2Fe-2S clusters, indicating for the first time an association of a redox-active FeS protein with WFS2.
|
49 |
19580816
|
Miner1 is the first functionally different protein that shares the NEET fold with its recently identified paralog mitoNEET, an outer mitochondrial membrane protein.
|
50 |
19580816
|
We report the first measurement of the redox potentials (E(m)) of Miner1 and mitoNEET, showing that they are proton-coupled with E(m) approximately 0 mV at pH 7.5.
|
51 |
19717971
|
CISD2, the causative gene for Wolfram syndrome 2 (WFS2), is a previously uncharacterized novel gene.
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52 |
20649540
|
CISD2, the causative gene for Wolfram syndrome 2 (WFS2), is an evolutionarily conserved novel gene.
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53 |
20649540
|
Recently, we have demonstrated that CISD2 is involved in mammalian lifespan control; this work also establishes WFS2 as a mitochondria-mediated disorder and effectively links CISD2 gene function, mitochondrial integrity, and aging in mammals.
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54 |
20649540
|
Future work will examine how the CISD2 knockout mouse helps us to understand WFS2 pathogenesis, as well as exploring the potential effects of increased CISD2 expression.
|
55 |
20649540
|
CISD2, the causative gene for Wolfram syndrome 2 (WFS2), is an evolutionarily conserved novel gene.
|
56 |
20649540
|
Recently, we have demonstrated that CISD2 is involved in mammalian lifespan control; this work also establishes WFS2 as a mitochondria-mediated disorder and effectively links CISD2 gene function, mitochondrial integrity, and aging in mammals.
|
57 |
20649540
|
Future work will examine how the CISD2 knockout mouse helps us to understand WFS2 pathogenesis, as well as exploring the potential effects of increased CISD2 expression.
|
58 |
20649540
|
CISD2, the causative gene for Wolfram syndrome 2 (WFS2), is an evolutionarily conserved novel gene.
|
59 |
20649540
|
Recently, we have demonstrated that CISD2 is involved in mammalian lifespan control; this work also establishes WFS2 as a mitochondria-mediated disorder and effectively links CISD2 gene function, mitochondrial integrity, and aging in mammals.
|
60 |
20649540
|
Future work will examine how the CISD2 knockout mouse helps us to understand WFS2 pathogenesis, as well as exploring the potential effects of increased CISD2 expression.
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61 |
23717386
|
Nutrient-deprivation autophagy factor-1 (NAF-1) (synonyms: Cisd2, Eris, Miner1, and Noxp70) is a [2Fe-2S] cluster protein immune-detected both in endoplasmic reticulum (ER) and mitochondrial outer membrane.
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62 |
23717386
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It was implicated in human pathology (Wolfram Syndrome 2) and in BCL-2 mediated antagonization of Beclin 1-dependent autophagy and depression of ER calcium stores.
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