Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Magrinelli F, Tesson C, Angelova PR, Rodriguez JA, Scardamaglia A, O'Callaghan B, Lowe SA, Salazar-Villacorta A, Chung BH, Jaconelli M, Vona B, Esteras N, Mammana A, Shimazu J, Kwong AK, Courtin T, Alavi S, Maroofian R, Nirujogi R, Severino M, Monfrini E, Rocca C, Lewis PA, Efthymiou S, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Baiardi S, Volin M, Cassar M, Hassan BA, Iftikhar S, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Cavallieri F, Santangelo M, Obeso JA, Kurtis MM, Cogan G, Kiziltan G, Gül-Demirkale T, Tireli H, Yüksel GA, Yalçın-Cakmakli G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Alvi JR, Sultan T, Alkhawaja IA, Froukh T, Alrukban HAE, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Di Fonzo A, Bonifati V, Haack TB, Bertoli-Avella AM, Lesage S, Başak AN, Steinfeld R, Parchi P, Jepson JEC, Alessi DR, PSMF1 Study Group, Brice A, Steller H, Abramov AY, Bhatia KP, Houlden H

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DOI
10.1101/2024.06.19.24308302
Published
2025 Jul 21
Container
medRxiv : the preprint server for health sciences
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1101/2024.06.19.24308302,
  title = {Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.},
  author = {Magrinelli F and Tesson C and Angelova PR and Rodriguez JA and Scardamaglia A and O'Callaghan B and Lowe SA and Salazar-Villacorta A and Chung BH and Jaconelli M and Vona B and Esteras N and Mammana A and Shimazu J and Kwong AK and Courtin T and Alavi S and Maroofian R and Nirujogi R and Severino M and Monfrini E and Rocca C and Lewis PA and Efthymiou S and Buchert R and Sofan L and Lis P and Pinon C and Breedveld GJ and Chui MM and Murphy D and Pitz V and Makarious MB and Baiardi S and Volin M and Cassar M and Hassan BA and Iftikhar S and Bauer P and Tinazzi M and Svetel M and Samanci B and Hanağası HA and Bilgiç B and Cavallieri F and Santangelo M and Obeso JA and Kurtis MM and Cogan G and Kiziltan G and Gül-Demirkale T and Tireli H and Yüksel GA and Yalçın-Cakmakli G and Elibol B and Barišić N and Ng EW and Fan SS and Hershkovitz T and Weiss K and Alvi JR and Sultan T and Alkhawaja IA and Froukh T and Alrukban HAE and Fauth C and Schatz UA and Zöggeler T and Zech M and Stals K and Varghese V and Gandhi S and Blauwendraat C and Hardy JA and Di Fonzo A and Bonifati V and Haack TB and Bertoli-Avella AM and Lesage S and Başak AN and Steinfeld R and Parchi P and Jepson JEC and Alessi DR and PSMF1 Study Group and Brice A and Steller H and Abramov AY and Bhatia KP and Houlden H},
  year = {2025},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.1101/2024.06.19.24308302},
  url = {https://doi.org/10.1101/2024.06.19.24308302}
}

RIS

TY  - JOUR
TI  - Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
AU  - Magrinelli F
AU  - Tesson C
AU  - Angelova PR
AU  - Rodriguez JA
AU  - Scardamaglia A
AU  - O'Callaghan B
AU  - Lowe SA
AU  - Salazar-Villacorta A
AU  - Chung BH
AU  - Jaconelli M
AU  - Vona B
AU  - Esteras N
AU  - Mammana A
AU  - Shimazu J
AU  - Kwong AK
AU  - Courtin T
AU  - Alavi S
AU  - Maroofian R
AU  - Nirujogi R
AU  - Severino M
AU  - Monfrini E
AU  - Rocca C
AU  - Lewis PA
AU  - Efthymiou S
AU  - Buchert R
AU  - Sofan L
AU  - Lis P
AU  - Pinon C
AU  - Breedveld GJ
AU  - Chui MM
AU  - Murphy D
AU  - Pitz V
AU  - Makarious MB
AU  - Baiardi S
AU  - Volin M
AU  - Cassar M
AU  - Hassan BA
AU  - Iftikhar S
AU  - Bauer P
AU  - Tinazzi M
AU  - Svetel M
AU  - Samanci B
AU  - Hanağası HA
AU  - Bilgiç B
AU  - Cavallieri F
AU  - Santangelo M
AU  - Obeso JA
AU  - Kurtis MM
AU  - Cogan G
AU  - Kiziltan G
AU  - Gül-Demirkale T
AU  - Tireli H
AU  - Yüksel GA
AU  - Yalçın-Cakmakli G
AU  - Elibol B
AU  - Barišić N
AU  - Ng EW
AU  - Fan SS
AU  - Hershkovitz T
AU  - Weiss K
AU  - Alvi JR
AU  - Sultan T
AU  - Alkhawaja IA
AU  - Froukh T
AU  - Alrukban HAE
AU  - Fauth C
AU  - Schatz UA
AU  - Zöggeler T
AU  - Zech M
AU  - Stals K
AU  - Varghese V
AU  - Gandhi S
AU  - Blauwendraat C
AU  - Hardy JA
AU  - Di Fonzo A
AU  - Bonifati V
AU  - Haack TB
AU  - Bertoli-Avella AM
AU  - Lesage S
AU  - Başak AN
AU  - Steinfeld R
AU  - Parchi P
AU  - Jepson JEC
AU  - Alessi DR
AU  - PSMF1 Study Group
AU  - Brice A
AU  - Steller H
AU  - Abramov AY
AU  - Bhatia KP
AU  - Houlden H
PY  - 2025
JO  - medRxiv : the preprint server for health sciences
DO  - 10.1101/2024.06.19.24308302
UR  - https://doi.org/10.1101/2024.06.19.24308302
ER  -

APA

F, M., C, T., PR, A., JA, R., A, S., B, O., SA, L., A, S., BH, C., M, J., B, V., N, E., A, M., J, S., AK, K., T, C., S, A., R, M., R, N., M, S., E, M., C, R., PA, L., S, E., R, B., L, S., P, L., C, P., GJ, B., MM, C., D, M., V, P., MB, M., S, B., M, V., M, C., BA, H., S, I., P, B., M, T., M, S., B, S., HA, H., B, B., F, C., M, S., JA, O., MM, K., G, C., G, K., T, G., H, T., GA, Y., G, Y., B, E., N, B., EW, N., SS, F., T, H., K, W., JR, A., T, S., IA, A., T, F., HAE, A., C, F., UA, S., T, Z., M, Z., K, S., V, V., S, G., C, B., JA, H., A, D. F., V, B., TB, H., AM, B., S, L., AN, B., R, S., P, P., JEC, J., DR, A., Group, P. S., A, B., H, S., AY, A., KP, B., & H, H. (2025). Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.. medRxiv : the preprint server for health sciences. https://doi.org/10.1101/2024.06.19.24308302

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