Back

IVNS1ABP Deficiency Disrupts Actin Filament Organization and Leads to Cellular Senescence in a Newly Identified Progeroid Neuropathy Syndrome

Yuan, F.; Tan, Y. S.; Wang, H.; Ali, A. N.; Yuan, Q.; Chou, S.-M.; Yen, Y.-H.; Narayanan, G.; Zhou, L.; Shboul, M.; Bonnard, C.; Reversade, B.; Zhang, S.-C.

2024-10-15 pathology
10.1101/2024.10.12.24315363 medRxiv
Show abstract

A homozygous variant in IVNS1ABP was identified in three siblings, displaying progeroid features with severe neuropathy. By generating isogenic induced pluripotent stem cells (iPSCs) from the patients fibroblasts and differentiating the iPSCs into neural progenitor cells (NPCs), we found that mutant IVNS1ABP fibroblasts, iPSCs, and NPCs exhibited disrupted cytokinesis, DNA damage and cellular senescence. Correspondingly, cerebral organoids displayed premature differentiation of NPCs to neurons. Molecular profiling as well as biochemical and cellular analysis revealed altered binding of mutant IVNS1ABP to actin /actin-associated proteins and dysregulated actin dynamics during cytokinesis. Taken together, we propose that mutant IVNS1ABP dysregulates actin polymerization and organization which is at least partly responsible for the cellular senescence phenotypes in this progeroid neuropathy syndrome.

Matching journals

The top 10 journals account for 50% of the predicted probability mass.

1
Nature Communications
○ 5641 papers in training set
Top 18%
9.9%
Similar papers in this journal
2
iScience
○ 1154 papers in training set
Top 0.8%
7.3%
Similar papers in this journal
3
Cell Reports
○ 1498 papers in training set
Top 6%
5.6%
Similar papers in this journal
4
eLife
● 5828 papers in training set
Top 24%
5.2%
Similar papers in this journal
5
Aging Cell
○ 165 papers in training set
Top 0.7%
4.9%
Similar papers in this journal
6
Stem Cell Reports
○ 130 papers in training set
Top 0.5%
4.4%
7
Cells
○ 249 papers in training set
Top 0.5%
4.4%
8
Acta Neuropathologica Communications
○ 89 papers in training set
Top 0.6%
3.5%
9
Protein & Cell
◐ 25 papers in training set
Top 0.1%
3.3%
10
Clinical and Translational Medicine
○ 31 papers in training set
Top 0.2%
2.5%
50% of probability mass above
11
Stem Cell Research & Therapy
○ 30 papers in training set
Top 0.3%
2.1%
12
Human Molecular Genetics
◐ 141 papers in training set
Top 1%
1.9%
13
Life Science Alliance
● 285 papers in training set
Top 3%
1.7%
14
International Journal of Biological Sciences
● 10 papers in training set
Top 0.1%
1.7%
15
Communications Biology
○ 993 papers in training set
Top 13%
1.7%
16
Science Advances
● 1243 papers in training set
Top 19%
1.7%
17
Cell Death Discovery
○ 58 papers in training set
Top 0.5%
1.7%
18
Scientific Reports
○ 3612 papers in training set
Top 56%
1.5%
19
Molecular Therapy
○ 81 papers in training set
Top 1%
1.5%
20
Brain
◐ 168 papers in training set
Top 2%
1.4%
21
Molecular Psychiatry
○ 282 papers in training set
Top 4%
1.3%
22
EMBO Reports
○ 263 papers in training set
Top 5%
1.1%
23
Journal of Clinical Investigation
● 179 papers in training set
Top 4%
1.1%
24
Frontiers in Cell and Developmental Biology
○ 233 papers in training set
Top 3%
1.1%
25
Cell Discovery
○ 57 papers in training set
Top 0.7%
1.1%
26
The EMBO Journal
○ 309 papers in training set
Top 5%
1.1%
27
National Science Review
◐ 21 papers in training set
Top 0.3%
0.9%
28
EMBO Molecular Medicine
○ 95 papers in training set
Top 2%
0.9%
29
Molecular Oncology
○ 55 papers in training set
Top 1%
0.9%
30
Cell Stem Cell
○ 62 papers in training set
Top 2%
0.9%

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.