CoChat
Sign Up
Cited by 29

The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex–driven autophagosomal remodeling pathway

Mathiowetz, Alyssa J., Baple, Emma, Russo, Ashley J., Coulter, Alyssa M., Carrano, Eric, Brown, Judith D., Jinks, Robert N., Crosby, Andrew H., Campellone, Kenneth G.·2017·Molecular Biology of the Cell
DOI 10.1091/mbc.e17-01-0022PMC PMC5597322
Open this paper in CoChat — free account

Abstract

Actin nucleation factors function to organize, shape, and move membrane-bound organelles, yet they remain poorly defined in relation to disease. Galloway-Mowat syndrome (GMS) is an inherited disorder characterized by microcephaly and nephrosis resulting from mutations in the WDR73 gene. This core clinical phenotype appears frequently in the Amish, where virtually all affected individuals harbor homozygous founder mutations in WDR73 as well as the closely linked WHAMM gene, which encodes a nucleation factor. Here we show that patient cells with both mutations exhibit cytoskeletal irregularities and severe defects in autophagy. Reintroduction of wild-type WHAMM restored autophagosomal biogenesis to patient cells, while inactivation of WHAMM in healthy cell lines inhibited lipidation of the autophagosomal protein LC3 and clearance of ubiquitinated protein aggregates. Normal WHAMM function involved binding to the phospholipid PI(3)P and promoting actin nucleation at nascent autophagosomes. These results reveal a cytoskeletal pathway controlling autophagosomal remodeling and illustrate several molecular processes that are perturbed in Amish GMS patients.

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1091/mbc.e17-01-0022

Cites

4 of 4 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Flagged first, then by citations

Show all 4 references

Research works printed but not linked: 47

  1. Aguilera MO, 2012, Autophagy, 8, 1590, 10.4161/auto.21459 · DOI
  2. Allantaz F, 2007, J Exp Med, 204, 2131, 10.1084/jem.20070070 · DOI
  3. Axe EL, 2008, J Cell Biol, 182, 685, 10.1083/jcb.200803137 · DOI · Paper page
  4. Ben-Omran T, 2015, J Med Genet, 52, 381, 10.1136/jmedgenet-2014-102707 · DOI
  5. Blom M, 2015, Exp Cell Res, 333, 208, 10.1016/j.yexcr.2015.02.023 · DOI
  6. Burgess T, 2014, Am J Med Genet A, 164, 77, 10.1002/ajmg.a.36203 · DOI
  7. Byrne S, 2016, Brain, 139, 765, 10.1093/brain/awv393 · DOI
  8. Campellone KG, 2012, J Biol Chem, 287, 20613, 10.1074/jbc.M112.363473 · DOI
  9. Campellone KG, 2008, Cell, 134, 148, 10.1016/j.cell.2008.05.032 · DOI
  10. Campellone KG, 2010, Nat Rev Mol Cell Biol, 11, 237, 10.1038/nrm2867 · DOI
  11. Carette JE, 2011, Nature, 477, 340, 10.1038/nature10348 · DOI
  12. Carlsson SR, 2015, J Cell Sci, 128, 193, 10.1242/jcs.141036 · DOI
  13. Choi AM, 2013, N Engl J Med, 368, 651, 10.1056/NEJMra1205406 · DOI · Paper page
  14. Colin E, 2014, Am J Hum Genet, 95, 637, 10.1016/j.ajhg.2014.10.011 · DOI
  15. Coutts AS, 2015, Nat Commun, 6, 7888, 10.1038/ncomms8888 · DOI
  16. Derry JM, 1994, Cell, 78, 635, 10.1016/0092-8674(94)90528-2 · DOI
  17. Doelken SC, 2013, Am J Med Genet A, 161, 218, 10.1002/ajmg.a.35695 · DOI
  18. Essletzbichler P, 2014, Genome Res, 24, 2059, 10.1101/gr.177220.114 · DOI
  19. 10.1091/mbc.e12-07-0555 · DOI
  20. Ge L, 2013, Elife, 2, e00947, 10.7554/eLife.00947 · DOI
  21. Ge L, 2014, Elife, 3, e04135, 10.7554/eLife.04135 · DOI
  22. 10.1091/mbc.e12-02-0101 · DOI · Paper page
  23. Huang J, 2011, Autophagy, 7, 17, 10.4161/auto.7.1.13840 · DOI
  24. Jinks RN, 2015, Brain, 138, 2173, 10.1093/brain/awv153 · DOI
  25. Kabeya Y, 2000, EMBO J, 19, 5720, 10.1093/emboj/19.21.5720 · DOI · Paper page
  26. Kast DJ, 2015, Curr Biol, 25, 1791, 10.1016/j.cub.2015.05.042 · DOI
  27. Kim M, 2016, Elife, 5, e12245, 10.7554/eLife.12245 · DOI · Paper page
  28. Mi N, 2015, Nat Cell Biol, 17, 1112, 10.1038/ncb3215 · DOI
  29. Moulding DA, 2013, Immunol Rev, 256, 282, 10.1111/imr.12114 · DOI
  30. Pollard TD, 2009, Science, 326, 1208, 10.1126/science.1175862 · DOI
  31. Roberts R, 2013, Essays Biochem, 55, 17, 10.1042/bse0550017 · DOI
  32. Rosti RO, 2016, Am J Med Genet A, 170, 992, 10.1002/ajmg.a.37533 · DOI
  33. Rosti RO, 2017, J Med Genet, 54, 399, 10.1136/jmedgenet-2016-104237 · DOI
  34. Rottner K, 2010, Trends Cell Biol, 20, 650, 10.1016/j.tcb.2010.08.014 · DOI
  35. Rotty JD, 2013, Nat Rev Mol Cell Biol, 14, 7, 10.1038/nrm3492 · DOI · Paper page
  36. 10.1091/mbc.E15-07-0508 · DOI
  37. Schluter K, 2014, Eur J Cell Biol, 93, 194, 10.1016/j.ejcb.2014.06.001 · DOI
  38. Shen QT, 2012, J Cell Biol, 199, 111, 10.1083/jcb.201204010 · DOI
  39. Teasdale RD, 2012, Biochem J, 441, 39, 10.1042/BJ20111226 · DOI · Paper page
  40. Vodopiutz J, 2015, Hum Mutat, 36, 1021, 10.1002/humu.22828 · DOI
  41. Wilbe M, 2015, PLoS Genet, 11, e1005248, 10.1371/journal.pgen.1005248 · DOI
  42. Xia P, 2013, EMBO J, 32, 2685, 10.1038/emboj.2013.189 · DOI
  43. Yang Z, 2010, Nat Cell Biol, 12, 814, 10.1038/ncb0910-814 · DOI
  44. Zavodszky E, 2014, Nat Commun, 5, 3828, 10.1038/ncomms4828 · DOI · Paper page
  45. Zhang M, 2015, Elife, 4, e11205, 10.7554/eLife.11205 · DOI
  46. Zoppino FC, 2010, Traffic, 11, 1246, 10.1111/j.1600-0854.2010.01086.x · DOI
  47. Zuchero JB, 2009, Nat Cell Biol, 11, 451, 10.1038/ncb1852 · DOI

Cited by

Sorted by citations

See all 29

Metadata

Authors
Mathiowetz, A. J., Baple, E., Russo, A. J., Coulter, A. M., Carrano, E., Brown, J. D., Jinks, R. N., Crosby, A. H., & Campellone, K. G.
Venue
Molecular Biology of the Cell
Publisher
American Society for Cell Biology (ASCB)
Published
2017-09-15
Volume
28
Issue
19
Pages
2492-2507
ISSN
  • 1059-1524
  • 1939-4586
DOI
10.1091/mbc.e17-01-0022
PMC
PMC5597322
Cited by
29
References
4
Language
en

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review