The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency
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Cites
PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT
Lowry, O., Rosebrough, N., Farr, A. L., & Randall, R. (1951) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)52451-6 · Cited by 317,331
Mitochondrial Respiratory-Chain Diseases
DiMauro, S., & Schon, E. A. (2003) · New England Journal of Medicine · doi:10.1056/nejmra022567 · Cited by 1,661
Self-citationMetabolism and function of coenzyme Q
Turunen, M., Olsson, J., & Dallner, G. (2004) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2003.11.012 · Cited by 1,026
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
Moreira, M.-C., Barbot, C., Tachi, N., Kozuka, N., Uchida, E., Gibson, T., Mendonça, P., Costa, M., Barros, J., Yanagisawa, T., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-189 · Cited by 434
Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-184 · Cited by 386
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.
Ogasahara, S., Engel, A. G., Frens, D., & Mack, D. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.7.2379 · Cited by 366
Kagan, V., Serbinova, E., & Packer, L. (1990) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(90)91971-t · Cited by 363
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
Rötig, A., Appelkvist, E.-L., Geromel, V., Chretien, D., Kadhom, N., Edery, P., Lebideau, M., Dallner, G., Munnich, A., Ernster, L., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02531-9 · Cited by 356
Coenzyme Q is an obligatory cofactor for uncoupling protein function
Echtay, K. S., Winkler, E., & Klingenberg, M. (2000) · Nature · doi:10.1038/35046114 · Cited by 327
Yokota, T., Igarashi, K., Uchihara, T., Jishage, K.-I., Tomita, H., Inaba, A., Li, Y., Arita, M., Suzuki, H., Mizusawa, H., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.261456098 · Cited by 261
Cited by
Ferroptosis: Mechanisms and links with diseases
Yan, H.-F., Zou, T., Tuo, Q.-Z., Xu, S., Li, H., Belaidi, A. A., & Lei, P. (2021) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-020-00428-9 · Cited by 1,471
Mitochondrial Disorders in the Nervous System
DiMauro, S., & Schon, E. A. (2008) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.30.051606.094302 · Cited by 536
Self-citationMitochondrial dysfunction in inherited renal disease and acute kidney injury
Emma, F., Montini, G., Parikh, S. M., & Salviati, L. (2016) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.214 · Cited by 398
Self-citationLópez, L. C., Schuelke, M., Quinzii, C. M., Kanki, T., Rodenburg, R. J. T., Naini, A., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/510023 · Cited by 395
Self-citationMonzio Compagnoni, G., Di Fonzo, A., Corti, S., Comi, G. P., Bresolin, N., & Masliah, E. (2020) · Molecular Neurobiology · doi:10.1007/s12035-020-01926-1 · Cited by 378
Metadata
- Authors
- Quinzii, C., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., & Hirano, M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2006-02
- Volume
- 78
- Issue
- 2
- Pages
- 345-349
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2084574772
- Cited by
- 353
- References
- 32
- FWCI
- 9.58
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. https://app.cochat.ai/papers/10.1086/500092
- The paper
- Quinzii, C., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., & Hirano, M. (2006). A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. The American Journal of Human Genetics. https://doi.org/10.1086/500092
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
