Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Green L, Hamilton N, Elpidorou M, Maroofian R, Zaki MS, Douglas AGL, Õunap K, Rose AMS, Harris EL, Candeias D, Elworthy S, Renshaw SA, Low EC, Dockrell DH, Tveten K, Wells G, Harris SA, Al-Maawali A, Al-Thihli K, Al-Zuhaibi S, Futaisi AA, Calame DG, Chinn IK, Fisher KS, Sa M, Warren D, Zamani M, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Seifi T, Afzal E, Tarnopolsky MA, Brady L, Zuchner S, Chamanrou N, Scardamaglia A, Wakeling E, Prabhakar P, Roca-Bayerri C, Rice GI, Prouteau C, Bris C, Tessarech M, Sandvig I, Hedjem N, Balushi AA, Marafi D, Houlden H, Sheridan EG, Johnson CA, Livingston JH, Crow YJ, Poulter JA

Open source

DOI
10.21203/rs.3.rs-4356120/v2
Published
2026 Jul 8
Container
Research square
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.21203/rs.3.rs-4356120/v2,
  title = {Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.},
  author = {Green L and Hamilton N and Elpidorou M and Maroofian R and Zaki MS and Douglas AGL and Õunap K and Rose AMS and Harris EL and Candeias D and Elworthy S and Renshaw SA and Low EC and Dockrell DH and Tveten K and Wells G and Harris SA and Al-Maawali A and Al-Thihli K and Al-Zuhaibi S and Futaisi AA and Calame DG and Chinn IK and Fisher KS and Sa M and Warren D and Zamani M and Sadeghian S and Azizimalamiri R and Galehdari H and Shariati G and Seifi T and Afzal E and Tarnopolsky MA and Brady L and Zuchner S and Chamanrou N and Scardamaglia A and Wakeling E and Prabhakar P and Roca-Bayerri C and Rice GI and Prouteau C and Bris C and Tessarech M and Sandvig I and Hedjem N and Balushi AA and Marafi D and Houlden H and Sheridan EG and Johnson CA and Livingston JH and Crow YJ and Poulter JA},
  year = {2026},
  journal = {Research square},
  doi = {10.21203/rs.3.rs-4356120/v2},
  url = {https://doi.org/10.21203/rs.3.rs-4356120/v2}
}

RIS

TY  - JOUR
TI  - Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.
AU  - Green L
AU  - Hamilton N
AU  - Elpidorou M
AU  - Maroofian R
AU  - Zaki MS
AU  - Douglas AGL
AU  - Õunap K
AU  - Rose AMS
AU  - Harris EL
AU  - Candeias D
AU  - Elworthy S
AU  - Renshaw SA
AU  - Low EC
AU  - Dockrell DH
AU  - Tveten K
AU  - Wells G
AU  - Harris SA
AU  - Al-Maawali A
AU  - Al-Thihli K
AU  - Al-Zuhaibi S
AU  - Futaisi AA
AU  - Calame DG
AU  - Chinn IK
AU  - Fisher KS
AU  - Sa M
AU  - Warren D
AU  - Zamani M
AU  - Sadeghian S
AU  - Azizimalamiri R
AU  - Galehdari H
AU  - Shariati G
AU  - Seifi T
AU  - Afzal E
AU  - Tarnopolsky MA
AU  - Brady L
AU  - Zuchner S
AU  - Chamanrou N
AU  - Scardamaglia A
AU  - Wakeling E
AU  - Prabhakar P
AU  - Roca-Bayerri C
AU  - Rice GI
AU  - Prouteau C
AU  - Bris C
AU  - Tessarech M
AU  - Sandvig I
AU  - Hedjem N
AU  - Balushi AA
AU  - Marafi D
AU  - Houlden H
AU  - Sheridan EG
AU  - Johnson CA
AU  - Livingston JH
AU  - Crow YJ
AU  - Poulter JA
PY  - 2026
JO  - Research square
DO  - 10.21203/rs.3.rs-4356120/v2
UR  - https://doi.org/10.21203/rs.3.rs-4356120/v2
ER  -

APA

L, G., N, H., M, E., R, M., MS, Z., AGL, D., K, Õ., AMS, R., EL, H., D, C., S, E., SA, R., EC, L., DH, D., K, T., G, W., SA, H., A, A., K, A., S, A., AA, F., DG, C., IK, C., KS, F., M, S., D, W., M, Z., S, S., R, A., H, G., G, S., T, S., E, A., MA, T., L, B., S, Z., N, C., A, S., E, W., P, P., C, R., GI, R., C, P., C, B., M, T., I, S., N, H., AA, B., D, M., H, H., EG, S., CA, J., JH, L., YJ, C., & JA, P. (2026). Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.. Research square. https://doi.org/10.21203/rs.3.rs-4356120/v2

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