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A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice

Snouwaert, John N., Church, Rachel J., Jania, Leigh, Nguyen, MyTrang, Wheeler, Matthew L., Saintsing, Andrew, Mieczkowski, Piotr, Manuel de Villena, Fernando Pardo, Armao, Diane, Moy, Sheryl S., Lorenzo, Damaris N., Koller, Beverly H.·2018·Cell Reports
DOI 10.1016/j.celrep.2018.06.118
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  • KO mice for the vast majority of genes that play fundamental roles in lysosomal positioning in both retrograde and anterograde directions are lethal or die immediately after birth.

    “KO mice for the vast majority of genes that play fundamental roles in this process, in both the retrograde and anterograde directions, are lethal or die immediately after birth.”

    From TMEM55B promotes anterograde transport and distal axonal distribution of LAMP1-positive organelles (2026) · cites this paper as Snouwaert et al., 2018

    The Results report that Borcs7 knockout pups all died within 12 hours of birth, and the paper links BORCS7 to lysosomal positioning and transport. The Introduction discusses anterograde and retrograde transport, but our copy does not establish that knockout mice for the vast majority of genes involved in both directions are lethal or die shortly after birth. (LLM, conf=0.88)

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Metadata

Authors
Snouwaert, J. N., Church, R. J., Jania, L., Nguyen, M., Wheeler, M. L., Saintsing, A., Mieczkowski, P., Manuel de Villena, F. P., Armao, D., Moy, S. S., Lorenzo, D. N., & Koller, B. H.
Venue
Cell Reports
Publisher
Elsevier BV
Published
2018-07
Volume
24
Issue
5
Pages
1254-1265
ISSN
2211-1247
DOI
10.1016/j.celrep.2018.06.118
Cited by
52
References
2
Language
en
Licence
Funders
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD079124)
  • University of North Carolina (P30 NS045892)

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