Redesigning therapies for pantothenate kinase–associated neurodegeneration
Open accessAbstract
Pantothenate kinase-associated neurodegeneration (PKAN) is an incurable rare genetic disorder of children and young adults caused by mutations in the PANK2 gene, which encodes an enzyme critical for the biosynthesis of coenzyme A. Although PKAN affects only a small number of patients, it shares several hallmarks of more common neurodegenerative diseases of older adults such as Alzheimer's disease and Parkinson's disease. Advances in etiological understanding and treatment of PKAN could therefore have implications for our understanding of more common diseases and may shed new lights on the physiological importance of coenzyme A, a cofactor critical for the operation of various cellular metabolic processes. The large body of knowledge that accumulated over the years around PKAN pathology, including but not limited to studies of various PKAN models and therapies, has contributed not only to progress in our understanding of the disease but also, importantly, to the crystallization of key questions that guide future investigations of the disease. In this review, we will summarize this knowledge and demonstrate how it forms the backdrop to new avenues of research.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
PANK4 is one of the pantothenate kinase isozymes implicated in coenzyme A biosynthesis.
“Of these two proteins, PANK4 showed a sex‐biased association with global AD pathology and is one of the pantothenate kinase isozymes implicated in coenzyme A biosynthesis. 63”
From Unraveling sex differences in Alzheimer's disease and related endophenotypes with brain proteomes (2025) · cites this paper as [63]
The Models of PKAN section identifies PANK4 as one of four human PANK-like genes, and the therapeutic-strategies section describes how its activity may affect the availability of CoA precursors. But the paper distinguishes PANK4 from the three active pantothenate kinases: it lacks the residues required for kinase activity and instead has phosphatase activity. Calling it a pantothenate kinase isozyme therefore overstates the source. (LLM, conf=0.86)
Experimental — accuracy not yet measuredPANK4 is associated with mitochondrial metabolism.
“Both MTFR1L and PANK4 are associated with mitochondrial metabolism, with MTFR1L implicated in mitochondrial fusion process 57 and PANK4 involved in coenzyme A biosynthesis. 63”
From Unraveling sex differences in Alzheimer's disease and related endophenotypes with brain proteomes (2025) · cites this paper as [63]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Poewe, W., Seppi, K., Tanner, C. M., Halliday, G. M., Brundin, P., Volkmann, J., Schrag, A.-E., & Lang, A. E. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.13 · Cited by 5,415 · see citing works
A comparative encyclopedia of DNA elements in the mouse genome
Yue, F., Cheng, Y., Breschi, A., Vierstra, J., Wu, W., Ryba, T., Sandstrom, R., Ma, Z., Davis, C., Pope, B. D., et al. (2014) · Nature · doi:10.1038/nature13992 · Cited by 1,781 · see citing works
LEONARDI, R., Zhang, Y., ROCK, C., & Jackowski, S. (2005) · Progress in Lipid Research · doi:10.1016/j.plipres.2005.04.001 · Cited by 649 · see citing works
Brain iron is associated with accelerated cognitive decline in people with Alzheimer pathology
Ayton, S., Wang, Y., Diouf, I., Schneider, J. A., Brockman, J. D., Morris, M. C., & Bush, A. I. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0375-7 · Cited by 372 · see citing works
Brain iron deposition in Parkinson's disease imaged using the PRIME magnetic resonance sequence
Graham, J. (2000) · Brain · doi:10.1093/brain/123.12.2423 · Cited by 223 · see citing works
Genome-wide identification of zero nucleotide recursive splicing in Drosophila
Duff, M. O., Olson, S., Wei, X., Garrett, S. C., Osman, A., Bolisetty, M. T., Plocik, A. M., Celniker, S., & Graveley, B. R. (2015) · Nature · doi:10.1038/nature14475 · Cited by 217 · see citing works
Dusi, S., Valletta, L., Haack, T. B., Tsuchiya, Y., Venco, P., Pasqualato, S., Goffrini, P., Tigano, M., Demchenko, N., Wieland, T., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.11.008 · Cited by 210 · see citing works
Dangouloff, T., & Servais, L. (2019) · Therapeutics and Clinical Risk Management · doi:10.2147/tcrm.s172291 · Cited by 198 · see citing works
Iron dysregulation in movement disorders
Dušek, P., Jankovic, J. J., & Le, W. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.12.054 · Cited by 172 · see citing works
Perry, T. L., Norman, M. G., Yong, V. W., Whiting, S. E., Crichton, J. U., Hansen, S., & Kish, S. J. (1985) · Annals of Neurology · doi:10.1002/ana.410180411 · Cited by 164 · see citing works
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms
Levi, S., & Finazzi, D. (2014) · Frontiers in Pharmacology · doi:10.3389/fphar.2014.00099 · Cited by 164 · see citing works
Pantethine rescues a Drosophila model for pantothenate kinase–associated neurodegeneration
Rana, A., Seinen, E., Siudeja, K., Muntendam, R., Srinivasan, B., van der Want, J. J. L., Hayflick, S. J., Reijngoud, D., Kayser, O., & Sibon, O. C. M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912105107 · Cited by 156 · see citing works
Klopstock, T., Tricta, F., Neumayr, L., Karin, I., Zorzi, G. S., Fradette, C., Kmieć, T., Büchner, B., Steele, H. E., Horváth, R., et al. (2019) · The Lancet Neurology · doi:10.1016/s1474-4422(19)30142-5 · Cited by 150 · see citing works
Kotzbauer, P. T., Truax, A. C., Trojanowski, J. Q., & Lee, V. M. ‐. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.4265-04.2005 · Cited by 148 · see citing works
Deficiency of pantothenate kinase 2 ( Pank2 ) in mice leads to retinal degeneration and azoospermia
Kuo, Y., Duncan, J. L., Westaway, S. K., Yang, H., Nune, G. C., Xu, E. Y., Hayflick, S. J., & Gitschier, J. M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi005 · Cited by 139 · see citing works
Hemoglobin level in older persons and incident Alzheimer disease
Shah, R. C., Buchman, A. S., Wilson, R. S., Leurgans, S. E., & Bennett, D. A. (2011) · Neurology · doi:10.1212/wnl.0b013e318225aaa9 · Cited by 136 · see citing works
Merkel, S. F., Andrews, A. M., Lutton, E. M., Mu, D., Hudry, E., Hyman, B. T., Maguire, C. A., & Ramirez, S. H. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.13861 · Cited by 132 · see citing works
Extracellular 4′-phosphopantetheine is a source for intracellular coenzyme A synthesis
Srinivasan, B., Baratashvili, M., van der Zwaag, M., Kanon, B., Colombelli, C., Lambrechts, R. A., Schaap, O., Nollen, E. A. A., Podgoršek, A., Kosec, G., et al. (2015) · Nature Chemical Biology · doi:10.1038/nchembio.1906 · Cited by 127 · see citing works
The Pathophysiological Role of CoA
Czumaj, A., Szrok-Jurga, S., Hebanowska, A., Turyn, J., Świerczyński, J., Śledziński, T., & Stelmańska, E. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21239057 · Cited by 126 · see citing works
Adeno-Associated Viral Vectors in Neuroscience Research
Haggerty, D. L., Grecco, G. G., Reeves, K. C., & Atwood, B. K. (2019) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2019.11.012 · Cited by 123 · see citing works
A therapeutic approach to pantothenate kinase associated neurodegeneration
Sharma, L. K., Subramanian, C., Yun, M., Frank, M. W., White, S. W., Rock, C. O., Lee, R. E., Jr., & Jackowski, S. (2018) · Nature Communications · doi:10.1038/s41467-018-06703-2 · Cited by 108 · see citing works
Brunetti, D., Dusi, S., Giordano, C., Lamperti, C., Morbin, M., Fugnanesi, V., Marchet, S., Fagiolari, G., Sibon, O. C. M., Moggio, M. G., et al. (2013) · Brain · doi:10.1093/brain/awt325 · Cited by 104 · see citing works
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)
Hogarth, P., Kurian, M. A., Gregory, A., Csányi, B., Zagustin, T., Kmieć, T., Wood, P., Klucken, A., Scalise, N. A., Sofia, F., et al. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2016.11.004 · Cited by 101 · see citing works
Bosveld, F., Rana, A. K., van der Wouden, P. E., Lemstra, W., Ritsema, M., Kampinga, H. H., & Sibon, O. C. M. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn105 · Cited by 94 · see citing works
Physiological roles of the pantothenate kinases
Dansie, L. E., Reeves, S. A., Miller, K. K., Zano, S. P., Frank, M. W., Pate, C., Wang, J., & Jackowski, S. (2014) · Biochemical Society Transactions · doi:10.1042/bst20140096 · Cited by 89 · see citing works
Zhang, Y.-M., Rock, C. O., & Jackowski, S. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m508825200 · Cited by 86 · see citing works
AAV9 Vector: a Novel modality in gene therapy for spinal muscular atrophy
Pattali, R., Mou, Y.-C., & Li, X.-J. (2019) · Gene Therapy · doi:10.1038/s41434-019-0085-4 · Cited by 82 · see citing works
Garcia, M. R., Leonardi, R., Zhang, Y.-M., Rehg, J. E., & Jackowski, S. (2012) · PLoS ONE · doi:10.1371/journal.pone.0040871 · Cited by 80 · see citing works
4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN
Jeong, S. Y., Hogarth, P., Placzek, A. T., Gregory, A., Fox, R. G., Zhen, D., Hamada, J., van der Zwaag, M., Lambrechts, R. A., Jin, H., et al. (2019) · EMBO Molecular Medicine · doi:10.15252/emmm.201910489 · Cited by 79 · see citing works
Iankova, V., Karin, I., Klopstock, T., & Schneider, S. A. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.629414 · Cited by 73 · see citing works
Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model
Wu, Z., Li, C., Lv, S., & Zhou, B. B. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp314 · Cited by 73 · see citing works
Zizioli, D., Tiso, N., Guglielmi, A., Saraceno, C., Busolin, G., Giuliani, R., Khatri, D., Monti, E., Borsani, G., Argenton, F., et al. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.10.010 · Cited by 70 · see citing works
Ameri, H. (2018) · Journal of Current Ophthalmology · doi:10.1016/j.joco.2018.01.006 · Cited by 69 · see citing works
CoA‐dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases
Lambrechts, R. A., Schepers, H., Yu, Y., van der Zwaag, M., Autio, K. J., Vieira‐Lara, M. A., Bakker, B. M., Tijssen, M. A. J., Hayflick, S. J., Grzeschik, N. A., et al. (2019) · EMBO Molecular Medicine · doi:10.15252/emmm.201910488 · Cited by 67 · see citing works
Localization and regulation of mouse pantothenate kinase 2
Leonardi, R., Zhang, Y.-M., Lykidis, A., Rock, C. O., & Jackowski, S. (2007) · FEBS Letters · doi:10.1016/j.febslet.2007.08.056 · Cited by 67 · see citing works
Olzhausen, J., Schübbe, S., & Schüller, H. (2009) · Current Genetics · doi:10.1007/s00294-009-0234-1 · Cited by 65 · see citing works
Álvarez-Córdoba, M., Khoury, A. F., Paz, M. V., Gómez-Navarro, C., Villalón-García, I., Suarez-Rivero, J. M., Povea-Cabello, S., de la Mata, M., Cotán, D., Talaverón-Rey, M., et al. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1333-0 · Cited by 61 · see citing works
Luckenbach, M. W., Green, W. R., Miller, N. R., Moser, H. W., Clark, A. W., & Tennekoon, G. I. (1983) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)78308-4 · Cited by 57 · see citing works
A family of metal-dependent phosphatases implicated in metabolite damage-control
Huang, L., Khusnutdinova, A. N., Nocek, B. P., Brown, G., Xu, X., Cui, H., Petit, P., Flick, R., Zallot, R., Balmant, K. M., et al. (2016) · Nature Chemical Biology · doi:10.1038/nchembio.2108 · Cited by 55 · see citing works
Inborn errors of coenzyme A metabolism and neurodegeneration
Meo, I. D., Carecchio, M., & Tiranti, V. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12026 · Cited by 52 · see citing works
Arber, C., Angelova, P. R., Wiethoff, S., Tsuchiya, Y., Mazzacuva, F., Preza, E., Bhatia, K. P., Mills, K. A., Gout, I. T., Abramov, A. Y., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0184104 · Cited by 48 · see citing works
Chang, X., Zhang, J., Jiang, Y., Wang, J., & Wu, Y. (2020) · CNS Neuroscience & Therapeutics · doi:10.1111/cns.13294 · Cited by 44 · see citing works
Human pantothenate kinase 4 is a pseudo‐pantothenate kinase
Yao, J., Subramanian, C., Rock, C. O., & Jackowski, S. (2019) · Protein Science · doi:10.1002/pro.3611 · Cited by 43 · see citing works
Subramanian, C., Yao, J., Frank, M. W., Rock, C. O., & Jackowski, S. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.165663 · Cited by 36 · see citing works
Zano, S. P., Pate, C., Frank, M. W., Rock, C. O., & Jackowski, S. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.10.011 · Cited by 36 · see citing works
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration
Klopstock, T., Videnović, A., Bischoff, A. T., Bonnet, C., Cif, L., Comella, C. L., Correa‐Vela, M., Escolar, M. L., Fraser, J. L., González, V., et al. (2020) · Movement Disorders · doi:10.1002/mds.28392 · Cited by 32 · see citing works
Meo, I. D., Colombelli, C., Srinivasan, B., de Villiers, M., Hamada, J., Jeong, S. Y., Fox, R. G., Woltjer, R. L., Tepper, P. G., Lahaye, L. L., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-11564-8 · Cited by 32 · see citing works
Gene Therapy Models of Alzheimer’s Disease and Other Dementias
Combs, B., Kneynsberg, A., & Kanaan, N. M. (2015) · Methods in molecular biology · doi:10.1007/978-1-4939-3271-9_25 · Cited by 31 · see citing works
Defining a role for hemoglobin in Parkinson’s disease
Freed, J., & Chakrabarti, L. (2016) · npj Parkinson s Disease · doi:10.1038/npjparkd.2016.21 · Cited by 31 · see citing works
Chang, X., Zhang, J., Jiang, Y., Yao, B., Wang, J., & Wu, Y. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01530-5 · Cited by 30 · see citing works
Shumar, S. A., Fagone, P., Alfonso-Pecchio, A. R., Gray, J. T., Rehg, J. E., Jackowski, S., & Leonardi, R. (2015) · PLoS ONE · doi:10.1371/journal.pone.0130013 · Cited by 29 · see citing works
Woltjer, R. L., Reese, L. C., Richardson, B. E., Tran, H. T. D., Green, S., Pham, T., Chalupsky, M., Gabriel, I., Light, T. J., Sanford, L., et al. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.10.012 · Cited by 20 · see citing works
Berti, C. C., Gilea, A. I., Gregorio, M. A. D., & Goffrini, P. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms22010293 · Cited by 19 · see citing works
Corbin, D. R., Rehg, J. E., Shepherd, D. L., Stoilov, P., Percifield, R. J., HORNER, L. H., Frase, S., Zhang, Y.-M., Rock, C. O., Hollander, J. M., et al. (2017) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2017.02.001 · Cited by 18 · see citing works
Chiu, J. E., Thekkiniath, J., Mehta, S. S., Müller, C., Bracher, F., & Mamoun, C. B. (2019) · Journal of Biological Chemistry · doi:10.1074/jbc.ra119.009791 · Cited by 14 · see citing works
Varun, P., Hagit, T., Bekenstein, U., Shifman, S., & Kadener, S. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00146 · Cited by 13 · see citing works
Auciello, G., Marco, A. D., Paz, O. G., Malancona, S., Harper, S., Beconi, M. G., Rossetti, I., Ciammaichella, A., Fezzardi, P., Vecchi, A. L., et al. (2020) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.0c01531 · Cited by 6 · see citing works
Neurodegeneration with Brain Iron Accumulation
Nardocci, N., Cavallera, V., Chiapparini, L., & Zorzi, G. S. (2014) · Springer eBooks · doi:10.1007/978-1-4471-6455-5_10 · Cited by 5 · see citing works
Khatri, D., Mignani, L., Zizioli, D., Ritelli, M., Monti, E., & Finazzi, D. (2020) · Bulletin of Experimental Biology and Medicine · doi:10.1007/s10517-020-05004-3 · Cited by 5 · see citing works
CoA regulation and metabolic control
Jackowski, S., & Rock, C. O. (2015) · The Biochemist · doi:10.1042/bio03701004 · Cited by 3 · see citing works
Flagged first, then by citations
1 of the 61 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Coenzyme A biosynthesis: mechanisms of regulation, function and disease
Barritt, S. A., DuBois-Coyne, S. E., & Dibble, C. C. (2024) · Nature Metabolism · doi:10.1038/s42255-024-01059-y · Cited by 107 · see citing works
PI3K drives the de novo synthesis of coenzyme A from vitamin B5
Dibble, C. C., Barritt, S. A., Perry, G. E., Lien, E. C., Geck, R. C., DuBois-Coyne, S. E., Bartee, D., Zengeya, T. T., Cohen, E. B., Yuan, M., et al. (2022) · Nature · doi:10.1038/s41586-022-04984-8 · Cited by 97 · see citing works
PKAN pathogenesis and treatment
Hayflick, S. J., Jeong, S. Y., & Sibon, O. C. M. (2022) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2022.09.011 · Cited by 33 · see citing works
Interactions between gut microbiota and parkinson’s disease: the role of tryptophan metabolism
Fan, X., Xiao, Z., Chen, Y., Yang, H., Diao, M., Hu, W., & Wang, S. (2025) · Cell Communication and Signaling · doi:10.1186/s12964-025-02393-8 · Cited by 33 · see citing works
Fernandez-Fuente, G., Rigby, M. J., & Puglielli, L. (2022) · Molecular Metabolism · doi:10.1016/j.molmet.2022.101653 · Cited by 27 · see citing works
Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments
Cavestro, C., Diodato, D., Tiranti, V., & Meo, I. D. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24065951 · Cited by 27 · see citing works
Shabbir, I., Liu, K., Riaz, B., Rahim, M. F., Zhong, S., Aweya, J. J., & Cheong, K. (2025) · Nutrients · doi:10.3390/nu17071268 · Cited by 26 · see citing works
Elucidation of the Role of FAM210B in Mitochondrial Metabolism and Erythropoiesis
Suzuki, C., Fujiwara, T., Shima, H., Ono, K., Saito, K., Kato, H., Onodera, K., Ichikawa, S., Fukuhara, N., Onishi, Y., et al. (2022) · Molecular and Cellular Biology · doi:10.1128/mcb.00143-22 · Cited by 13 · see citing works
Metabolic impairments in neurodegeneration with brain iron accumulation
Wydrych, A., Pakuła, B., Janikiewicz, J., Dobosz, A. M., Jakubek, P., Skowrońska, M., Kurkowska‐Jastrzębska, I., Cwyl, M., Popielarz, M., Pinton, P., et al. (2024) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2024.149517 · Cited by 12 · see citing works
Unraveling sex differences in Alzheimer's disease and related endophenotypes with brain proteomes
Mei, Z., Liu, J., Bennett, D. A., Seyfried, N., Wingo, A. P., & Wingo, T. S. (2025) · Alzheimer's & Dementia · doi:10.1002/alz.70206 · Cited by 11 · see citing works
“63 SOS1 showed a significant sex interaction with CAA and is a guanine nucleotide exchange factor that activates the RAS signaling cascade.”
Intelligent Systems for Muscle Tracking: A Review on Sensor‐Algorithm Synergy
Putcha, A., Nguyen, T., Smith, R., Choffin, R., & Bai, W. (2023) · Advanced Intelligent Systems · doi:10.1002/aisy.202200351 · Cited by 10 · see citing works
Choi, J., Gihaz, S., Munshi, M., Singh, P., Vydyam, P., Hamel, P. P., Adams, E. M., Sun, X., Khalimonchuk, O., Fuller, K. K., et al. (2024) · Communications Biology · doi:10.1038/s42003-024-06595-7 · Cited by 10 · see citing works
Self-citationPohane, M. R., Dafre, R., & Sontakke, N. G. (2023) · Cureus · doi:10.7759/cureus.46135 · Cited by 11 · see citing works
Vella, V., Ditsiou, A., Chalari, A., Eravci, M., Wooller, S. K., Gagliano, T., Bani, C., Kerschbamer, E., Karakostas, C., Xu, B., et al. (2024) · Advanced Science · doi:10.1002/advs.202306027 · Cited by 10 · see citing works
Pathogenic genes associated with Parkinson’s disease: molecular mechanism overview
Liu, T., HAO, Y., & ZHAO, L. (2024) · Biocell · doi:10.32604/biocell.2024.049130 · Cited by 9 · see citing works
Álvarez-Córdoba, M., Talaverón-Rey, M., Povea-Cabello, S., Cilleros-Holgado, P., Gómez-Fernández, D., Piñero-Pérez, R., Reche-López, D., Munuera-Cabeza, M., Suárez-Carrillo, A., Romero-González, A., et al. (2023) · Pharmaceuticals · doi:10.3390/ph16101359 · Cited by 6 · see citing works
A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study
Pereira, A. M., de Souza, C. F. M., Álvarez-Córdoba, M., Reche-López, D., & Sánchez-Alcázar, J. A. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03453-x · Cited by 6 · see citing works
Pathology and treatment methods in pantothenate kinase-associated neurodegeneration
Kwinta, R., Kopcik, K., & Koberling, A. (2024) · Postępy Psychiatrii i Neurologii · doi:10.5114/ppn.2024.141713 · Cited by 5 · see citing works
Berti, C. C., Gihaz, S., Figuccia, S., Choi, J., Pal, A. C., Goffrini, P., & Mamoun, C. B. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms24010435 · Cited by 5 · see citing works
Islam, M. M., Templeton, J. M., Poellabauer, C., & Mondal, A. M. (2024) · IEEE International Conference on Bioinformatics and Biomedicine (BIBM) · doi:10.1109/bibm62325.2024.10822140 · Cited by 2 · see citing works
Targeting pantothenate kinases in human diseases: Biochemistry and pharmacotherapy
Zhang, X., Zhang, B., Li, X., Qiu, F., Zhang, Q., & Kang, N. (2025) · Biochemical Pharmacology · doi:10.1016/j.bcp.2025.117207 · Cited by 2 · see citing works
Raghavan, R., Wang, G., Hong, X., Pearson, C., Xie, H., Adams, W. G., Augustyn, M. C., & Wang, X. (2023) · PubMed Central · doi:10.1097/pn9.0000000000000036 · Cited by 2 · see citing works
Rodriguez-Perez, H.-M., Reyes-Flores, O.-B., Quiñonez-Pacheco, Y., Centeno-Navarrete, Y., González-Vázquez, C., & Campos-Garcia, F.-J. (2024) · SAGE Open Medical Case Reports · doi:10.1177/2050313x241249088 · Cited by 1 · see citing works
Coenzyme A metabolism in fungi: a new frontier in antifungal therapy
Choi, J., Chiang, A., & Mamoun, C. B. (2026) · Clinical Microbiology Reviews · doi:10.1128/cmr.00307-25 · Cited by 1 · see citing works
From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis
Meo, I. D., Anikster, Y., Tiranti, V., & Iuso, A. (2026) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.70239 · Cited by 1 · see citing works
Choi, J., Gihaz, S., Munshi, M., Singh, P., Vydyam, P., Hamel, P. P., Adams, E. M., Fuller, K. K., & Mamoun, C. B. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.10.571002
Self-citationHallerworden – Spatz DISEASE. Clinical case
Новикова, Л. Б., Ziultsle, K. M., & Akopyan, A. P. (2025) · Medical alphabet · doi:10.33667/2078-5631-2024-33-34-38
Pantothenate kinase-associated neurodegeneration
Новикова, Л. Б., Akopyan, A. P., & Ziultsle, K. M. (2025) · Russian neurological Journal · doi:10.30629/2658-7947-2025-30-4-44-50
Probing Allosteric Kinase Modulators as Next Game-Changers in Fighting Neurodegeneration
Roggiolani, E., Rosini, M., Minarini, A., & Basagni, F. (2026) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.5c03783
Regan, J., Pal, A. C., Gihaz, S., Sutton, R. E., & Mamoun, C. B. (2026) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2026.113567
Dietary vitamin B5 positively regulates intestinal neuropeptide secretion in C. elegansPreprint
Jia, Q., Calof, A., & Sieburth, D. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.10.13.758927
Речевой профиль при болезни Галлервордена-Шпатца: клинический случай
Berdnikovitch, E. S. (2026) · Sovremennyj učënyj. · doi:10.58224/2541-8459-2026-11-248-262
- Authors
- Munshi, M. I., Yao, S. J., & Ben Mamoun, C.
- Affiliations
- Yale University (US)
- ORCID
- Munshi, Muhammad I.
- Venue
- Journal of Biological Chemistry
- Publisher
- Elsevier BV
- Published
- 2022-03
- Volume
- 298
- Issue
- 3
- Pages
- 101577
- ISSN
- 0021-9258 (ISSN-L)
- PMC
- PMC8861153
- OpenAlex
- W4205542864
- Cited by
- 32
- References
- 61
- Citations by year
- 2026: 6 · 2025: 6 · 2024: 9 · 2023: 6 · 2022: 5
- FWCI
- 0.67
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Journal of Biological Chemistry (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (UL1TR001863)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Coenzyme Q10 studies and effects
- Keywords
- pantothenate kinase-associated neurodegeneration, PANK2, coenzyme A biosynthesis, Alzheimer's disease, Parkinson's disease, metabolic cofactors
- MeSH terms
- Animals, Coenzyme A, Pantothenate Kinase-Associated Neurodegeneration, Humans, Mutation, Phosphotransferases (Alcohol Group Acceptor), Neurodegenerative Diseases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
