COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

Falabella M, Lopez Calcerrada S, Aref J, Gao J, Macken WL, Pizzamiglio C, Kabiljo R, Francavilla AL, Gaignard P, Pouzet A, Levy J, Barcia G, Leighton JK, Chronopoulou E, Pierre G, Köksal Özgül R, Dursun A, Halligan R, Mundy H, Raza Alvi J, Sultan T, Craigen WJ, Emrick L, Rosenfeld JA, Elmakkawy G, Kim J, Gleeson JJ, Rad A, Oprea G, Hussain M, Rehman KU, Riaz S, Taylor RW, Procaccio V, Zaki MS, Fernandez-Vizarra E, Pierri CL, Hanna MG, Houlden H, Maroofian R, Ugalde C, Taanman JW, Pitceathly RDS

Open source

DOI
10.1038/s41467-026-73455-9
Published
2026 May 30
Container
Nature communications
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/s41467-026-73455-9,
  title = {COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.},
  author = {Falabella M and Lopez Calcerrada S and Aref J and Gao J and Macken WL and Pizzamiglio C and Kabiljo R and Francavilla AL and Gaignard P and Pouzet A and Levy J and Barcia G and Leighton JK and Chronopoulou E and Pierre G and Köksal Özgül R and Dursun A and Halligan R and Mundy H and Raza Alvi J and Sultan T and Craigen WJ and Emrick L and Rosenfeld JA and Elmakkawy G and Kim J and Gleeson JJ and Rad A and Oprea G and Hussain M and Rehman KU and Riaz S and Taylor RW and Procaccio V and Zaki MS and Fernandez-Vizarra E and Pierri CL and Hanna MG and Houlden H and Maroofian R and Ugalde C and Taanman JW and Pitceathly RDS},
  year = {2026},
  journal = {Nature communications},
  doi = {10.1038/s41467-026-73455-9},
  url = {https://doi.org/10.1038/s41467-026-73455-9}
}

RIS

TY  - JOUR
TI  - COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.
AU  - Falabella M
AU  - Lopez Calcerrada S
AU  - Aref J
AU  - Gao J
AU  - Macken WL
AU  - Pizzamiglio C
AU  - Kabiljo R
AU  - Francavilla AL
AU  - Gaignard P
AU  - Pouzet A
AU  - Levy J
AU  - Barcia G
AU  - Leighton JK
AU  - Chronopoulou E
AU  - Pierre G
AU  - Köksal Özgül R
AU  - Dursun A
AU  - Halligan R
AU  - Mundy H
AU  - Raza Alvi J
AU  - Sultan T
AU  - Craigen WJ
AU  - Emrick L
AU  - Rosenfeld JA
AU  - Elmakkawy G
AU  - Kim J
AU  - Gleeson JJ
AU  - Rad A
AU  - Oprea G
AU  - Hussain M
AU  - Rehman KU
AU  - Riaz S
AU  - Taylor RW
AU  - Procaccio V
AU  - Zaki MS
AU  - Fernandez-Vizarra E
AU  - Pierri CL
AU  - Hanna MG
AU  - Houlden H
AU  - Maroofian R
AU  - Ugalde C
AU  - Taanman JW
AU  - Pitceathly RDS
PY  - 2026
JO  - Nature communications
DO  - 10.1038/s41467-026-73455-9
UR  - https://doi.org/10.1038/s41467-026-73455-9
ER  -

APA

M, F., S, L. C., J, A., J, G., WL, M., C, P., R, K., AL, F., P, G., A, P., J, L., G, B., JK, L., E, C., G, P., R, K. Ö., A, D., R, H., H, M., J, R. A., T, S., WJ, C., L, E., JA, R., G, E., J, K., JJ, G., A, R., G, O., M, H., KU, R., S, R., RW, T., V, P., MS, Z., E, F., CL, P., MG, H., H, H., R, M., C, U., JW, T., & RDS, P. (2026). COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.. Nature communications. https://doi.org/10.1038/s41467-026-73455-9

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