Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.

Winkler CW, Schwarz B, Williams K, Alehashemi S, Foliaki ST, Snow J, Joseph L, Thurm A, Friend CL, Cooper G, Bohrnsen E, Bhuyan F, Brandes NT, Moaddel R, Boehm M, Chen G, Kimzey CD, Bielekova B, Kocot J, Kosa P, Haigh CL, Goldbach-Mansky R, Peterson KE

Open source

DOI
10.1172/jci199140
Published
2026 Aug 4
Container
The Journal of clinical investigation
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1172/jci199140,
  title = {Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.},
  author = {Winkler CW and Schwarz B and Williams K and Alehashemi S and Foliaki ST and Snow J and Joseph L and Thurm A and Friend CL and Cooper G and Bohrnsen E and Bhuyan F and Brandes NT and Moaddel R and Boehm M and Chen G and Kimzey CD and Bielekova B and Kocot J and Kosa P and Haigh CL and Goldbach-Mansky R and Peterson KE},
  year = {2026},
  journal = {The Journal of clinical investigation},
  doi = {10.1172/jci199140},
  url = {https://doi.org/10.1172/jci199140}
}

RIS

TY  - JOUR
TI  - Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.
AU  - Winkler CW
AU  - Schwarz B
AU  - Williams K
AU  - Alehashemi S
AU  - Foliaki ST
AU  - Snow J
AU  - Joseph L
AU  - Thurm A
AU  - Friend CL
AU  - Cooper G
AU  - Bohrnsen E
AU  - Bhuyan F
AU  - Brandes NT
AU  - Moaddel R
AU  - Boehm M
AU  - Chen G
AU  - Kimzey CD
AU  - Bielekova B
AU  - Kocot J
AU  - Kosa P
AU  - Haigh CL
AU  - Goldbach-Mansky R
AU  - Peterson KE
PY  - 2026
JO  - The Journal of clinical investigation
DO  - 10.1172/jci199140
UR  - https://doi.org/10.1172/jci199140
ER  - 

APA

CW, W., B, S., K, W., S, A., ST, F., J, S., L, J., A, T., CL, F., G, C., E, B., F, B., NT, B., R, M., M, B., G, C., CD, K., B, B., J, K., P, K., CL, H., R, G., & KE, P. (2026). Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.. The Journal of clinical investigation. https://doi.org/10.1172/jci199140

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