Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

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, Anjum MN, Saeed A, Cheema HA, 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
10.1038/s41467-026-71351-w
Published
2026 Apr 15
Container
Nature communications
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/s41467-026-71351-w,
  title = {Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.},
  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 Anjum MN and Saeed A and Cheema HA 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 = {2026},
  journal = {Nature communications},
  doi = {10.1038/s41467-026-71351-w},
  url = {https://doi.org/10.1038/s41467-026-71351-w}
}

RIS

TY  - JOUR
TI  - Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.
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  - Anjum MN
AU  - Saeed A
AU  - Cheema HA
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  - 2026
JO  - Nature communications
DO  - 10.1038/s41467-026-71351-w
UR  - https://doi.org/10.1038/s41467-026-71351-w
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., MN, A., A, S., HA, C., 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. (2026). Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.. Nature communications. https://doi.org/10.1038/s41467-026-71351-w

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