Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis

Cerebral Cavernous Malformations

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Genetics of cavernous angiomas

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Rac–MEKK3–MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock

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The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

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A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein

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Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

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Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations

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KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell–cell junctions

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Advances in Mass Spectrometry of Gangliosides Expressed in Brain Cancers

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Loss of programmed cell death 10 activates tumor cells and leads to temozolomide-resistance in glioblastoma

Nickel, A., Wan, X., Saban, D. V., Weng, Y., Zhang, S., Keyvani, K., Sure, U., & Zhu, Y. (2018) · Journal of Neuro-Oncology · doi:10.1007/s11060-018-03017-7 · Cited by 12

ANKS1B Interacts with the Cerebral Cavernous Malformation Protein-1 and Controls Endothelial Permeability but Not Sprouting Angiogenesis

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CCM2L (Cerebral Cavernous Malformation 2 Like) Deletion Aggravates Cerebral Cavernous Malformation Through Map3k3-KLF Signaling Pathway

Choi, J. P., Yang, X., He, S., Song, R., Xu, Z., Foley, M., Wong, J. J. L., Xu, C., & Zheng, X. (2021) · Stroke · doi:10.1161/strokeaha.120.031523 · Cited by 12

TLNRD1 is a CCM complex component and regulates endothelial barrier integrity

Ball, N. J., Ghimire, S., Follain, G., Pajari, A. O., Wurzinger, D., Vaitkevičiūtė, M., Cowell, A. R., Berki, B., Ivaska, J., Paatero, I., et al. (2024) · Journal of Cell Biology · doi:10.1083/jcb.202310030 · Cited by 11

Intraventricular foramen of Monro cavernous malformation

Winslow, N., Abode-Iyamah, K. O., Flouty, O. E., Park, B. J., Kirby, P., & Howard, M. A. (2015) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2015.03.043 · Cited by 11

Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing

Chang, L.-H., Chi, N., Chen, C., Lin, Y., Hsu, S., Tsai, J.-Y., Huang, H., Lin, C., Chung, C., Tung, C.-Y., et al. (2022) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-022-01315-3 · Cited by 12

PHACE syndrome is associated with intracranial cavernous malformations

Foster, K. A., Ares, W. J., Tempel, Z. J., McCormick, A. A., Panigrahy, A., Grunwaldt, L. J., & Greene, S. (2016) · Child s Nervous System · doi:10.1007/s00381-016-3097-z · Cited by 11

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Much, C. D., Schwefel, K., Skowronek, D., Shoubash, L., von Podewils, F., Elbracht, M., Spiegler, S., Kurth, I., Flöel, A., Schroeder, H. W. S., et al. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.01219 · Cited by 10

Epicardial CCM2 Promotes Cardiac Development and Repair Via its Regulation on Cytoskeletal Reorganization

Wang, R., Lu, D., Song, R., Du, L., Yang, X., Wu, S., Wang, X., Wong, J. J. L., Xu, Z., Zhao, Q., et al. (2023) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2023.09.004 · Cited by 10

Proteomics on human cerebral cavernous malformations reveals novel biomarkers in neurovascular dysfunction for the disease pathology

Magnusson, P., Jauhiainen, S., Onyeogaziri, F., Lazzaroni, F., Conze, L. L., Laakkonen, J. P., Karam, N. L., Laakso, A., Niemela, M., Jahromi, B. R., et al. (2024) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2024.167139 · Cited by 13

Is Location Everything? Regulation of the Endothelial CCM Signaling Complex

Swamy, H., & Glading, A. (2022) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2022.954780 · Cited by 12

Enhanced expression of Programmed cell death 1 (PD-1) protein in benign vascular anomalies

Amaya, C. N., Wians, F. H., Bryan, B. A., & Torabi, A. (2017) · Pathology · doi:10.1016/j.pathol.2016.10.015 · Cited by 9

Biomechanics of Endothelial Tubule Formation Differentially Modulated by Cerebral Cavernous Malformation Proteins

Chernaya, O., Zhurikhina, A., Hladyshau, S., Pilcher, W., Young, K. M., Ortner, J., Andra, V., Sulchek, T., & Tsygankov, D. (2018) · iScience · doi:10.1016/j.isci.2018.11.001 · Cited by 8

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

Spiegler, S., Kirchmaier, B. C., Rath, M., Korenke, G. C., Tetzlaff, F., van de Vorst, M., Neveling, K., Acker‐Palmer, A., Kuss, A. W., Gilissen, C., et al. (2016) · Molecular Syndromology · doi:10.1159/000446884 · Cited by 8

Novel loss of function mutation in KRIT1/CCM1 is associated with distinctly progressive cerebral and spinal cavernous malformations after radiochemotherapy for intracranial malignant germ cell tumor

Russo, A., Neu, M. A., Theruvath, J. L., Kron, B., Wingerter, A., Hey-Koch, S., Tanyildizi, Y., & Faber, J. (2017) · Child s Nervous System · doi:10.1007/s00381-017-3434-x · Cited by 8

Exome capture sequencing identifies a novelCCM1mutation in a Chinese family with multiple cerebral cavernous malformations

Mao, C., Yang, J., Zhang, S., Luo, H., Song, B., Liu, Y., Wu, J. W., Sun, S., Yang, Z.-H., Du, P., et al. (2015) · International Journal of Neuroscience · doi:10.3109/00207454.2015.1118628 · Cited by 9

Genetic Markers and Their Influence on Cerebrovascular Malformations

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Microbiota-Immune System Interactions in Human Neurological Disorders

Huang, Q., Fang, Y., Liao, D., & Xia, J. (2020) · CNS & Neurological Disorders - Drug Targets · doi:10.2174/1871527319666200726222138 · Cited by 7

Bioengineering an Artificial Human Blood–Brain Barrier in Rodents

Kamal, K., & Waldau, B. (2019) · Bioengineering · doi:10.3390/bioengineering6020038 · Cited by 7

Recurrence of cavernous malformations after surgery in childhood

Prolo, L. M., Jin, M. C., Loven, T., Vogel, H. S., Edwards, M. S. B., Steinberg, G. K., & Grant, G. A. (2020) · Journal of Neurosurgery Pediatrics · doi:10.3171/2020.2.peds19543 · Cited by 7

New Insights in the Complexity and Functionality of the Neurovascular Unit

Schaffenrath, J., & Keller, A. (2020) · Handbook of experimental pharmacology · doi:10.1007/164_2020_424 · Cited by 8

Cerebral Cavernous Malformations

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Single-cell sequencing insights into the transcriptional landscape of cerebral cavernous malformations

Zheng, W., Chen, L. Z., Ma, J., Zuo, Y., Yu, S., Li, J., Lu, Y., & Zhao, Y. (2025) · Angiogenesis · doi:10.1007/s10456-025-10011-x · Cited by 5

A Systematic Review of MicroRNAs in Hemorrhagic Neurovascular Disease: Cerebral Cavernous Malformations as a Paradigm

Alcazar‐Félix, R. J., Jhaveri, A., Iqbal, J., Srinath, A., Bennett, C., Bindal, A., Cruz, D. V., Romanos, S. G., Hage, S. F., Stadnik, A., et al. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26083794 · Cited by 5

Unexpected distribution of KRIT1 inside the nucleus: new insight in a complex molecular pathway

Marzo, S., Galimberti, V., & Biggiogera, M. (2014) · European Journal of Histochemistry · doi:10.4081/ejh.2014.2358 · Cited by 6

Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations

Zhang, F., Xue, Y., Zhang, F., Wei, X., Zhou, Z., Ma, Z., Wang, X., Shen, H., Li, Y., Cui, X., et al. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.525986 · Cited by 6

Review of spinal dural arteriovenous fistulas: Challenges, diagnostics, management, and pathophysiology

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Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations

Benichi, S., Balducci, E., Benzakoun, J., Ghannam, B., Attieh, C., Métais, A., Bourgeois, M., Guida, L., Kaltenbach, S., Tauziède‐Espariat, A., et al. (2025) · Brain Communications · doi:10.1093/braincomms/fcaf408 · Cited by 5

High Levels of Receptor Tyrosine Kinases in CCM3-Deficient Cells Increase Their Susceptibility to Tyrosine Kinase Inhibition

Sartages, M., Floridia, E., García-Colomer, M., Iglesias, C., Macía, M., Peñas, P., Couraud, P., Romero, I. A., Weksler, B. B., Pombo, C. M., et al. (2020) · Biomedicines · doi:10.3390/biomedicines8120624 · Cited by 5

Isolation and Purification of Mouse Brain Endothelial Cells to Study Cerebral Cavernous Malformation Disease

Hale, P., Soliman, S. I., Sun, H., & Lopez‐Ramirez, M. A. (2020) · Methods in molecular biology · doi:10.1007/978-1-0716-0640-7_11 · Cited by 4

Cavernous Malformations to Be Investigated for Familiarity: The Role of Ki67 MIB1

Maiuri, F., Mariniello, G., Corvino, S., Somma, T., Guadagno, E., Teodonno, G., De, M. D. B., & Cappabianca, P. (2021) · World Neurosurgery · doi:10.1016/j.wneu.2021.08.008 · Cited by 5

Cavernous venous malformations in and around the central nervous system. Part 1: Dural and extradural

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Inflammation in Cerebral Cavernous Malformations: Differences Between Malformation Related Epilepsy vs. Symptomatic Hemorrhage

Rodemerk, J., Engel, A., Horstmann, J. L. H., Rauschenbach, L., Oppong, M. D., Santos, A. N., Junker, A., Deuschl, C., Forsting, M., Zhu, Y., et al. (2025) · Cells · doi:10.3390/cells14191510 · Cited by 4

Vascular and Ischemic Disorders

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Cerebral cavernous malformation in a child leading to a fatal subarachnoid hemorrhage – “silent but sinister:” A case report and literature review

Fernando, P. M., Munasinghe, B. M., Jayamanne, M. D. C. J. P., Jayasundara, K. A., Arambepola, W. S. N. W. B. M. A. G., Pranavan, S., & Ranathunge, N. (2021) · Surgical Neurology International · doi:10.25259/sni_248_2021 · Cited by 4

Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family

Du, Q., Shi, Z., Chen, H., Zhang, Y., Wang, J., & Zhou, H. (2019) · Journal of Molecular Neuroscience · doi:10.1007/s12031-018-1254-4 · Cited by 4

Regulation of the Blood–Brain Barrier in Health and DiseasePreprint

Rada, C. C., Yuki, K., Ding, J., & Kuo, C. J. (2023) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a041191 · Cited by 4

Metformin limits cerebral cavernous malformation development by targeting KLF4-mediated mitochondrial damage

Yan, C., Ye, Y., Liu, N., Zhang, D., Du, W., Li, Y., Li, G., Li, C., Li, J., Ma, S., et al. (2025) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2025.152241 · Cited by 3

Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene

Ishii, K., Tozaka, N., Tsutsumi, S., Muroi, A., & Tamaoka, A. (2020) · Medicine · doi:10.1097/md.0000000000019800 · Cited by 3

NDR kinase tricornered genetically interacts with Ccm3 and metabolic enzymes in Drosophila melanogaster tracheal development

Hudson, J., Paul, S., Veraksa, A. N., Ghabrial, A. S., Harvey, K. F., & Poon, C. L. C. (2023) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkad013 · Cited by 3

Neuro-oculocutaneous Syndromes (Phakomatoses)

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Notch Signaling in Familial Cerebral Cavernous Malformations and Immunohistochemical Detection of Cleaved Notch1 Intracellular Domain

Hasan, S. S., & Fischer, A. (2020) · Methods in molecular biology · doi:10.1007/978-1-0716-0640-7_31 · Cited by 4

Defective autophagy gets to the brain

Galluzzi, L., & Kroemer, G. (2015) · Oncotarget · doi:10.18632/oncotarget.6318 · Cited by 3

Molecular Biology of CCM

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Identification of a novel LATS1 variant associated with familial cerebral cavernous malformations in a Chinese family

Geng, L., Jiang, T., Zhu, Y., Wang, Q., Yuan, W., Hu, X., Zou, Y., Xiao, H., & Liu, H. (2022) · Neurological Sciences · doi:10.1007/s10072-022-06323-1 · Cited by 2

Detection of p62/SQSTM1 Aggregates in Cellular Models of CCM Disease by Immunofluorescence

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Angioarchitecture and genetic variants of spinal cord cavernous malformations and associated developmental venous anomalies: a case report

Ren, J. C., Tu, T., Hong, T., & Zhang, H. (2023) · Child s Nervous System · doi:10.1007/s00381-023-05887-3 · Cited by 2

Barriers of the CNS and Their Contribution to Drug-Resistant Epilepsy

Díaz-Coránguez, M., Auzmendi, J., Fuentes-Mejía, M., Cosme, T. M., Lazarowski, A., & Rocha, L. (2024) · AAPS introductions in the pharmaceutical sciences · doi:10.1007/978-3-031-62604-3_8 · Cited by 2

Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations

Galvão, G. D. F., Trefilio, L. M., Salvio, A. L., da Silva, E. V., Alves‐Leon, S. V., Fontes-Dantas, F. L., & de Souza, J. M. (2024) · Journal of Stroke and Cerebrovascular Diseases · doi:10.1016/j.jstrokecerebrovasdis.2024.107947 · Cited by 2

Cavernomas

Massimi, L., Kar, S., Giordano, M., & Bertalanffy, H. (2019) · Springer eBooks · doi:10.1007/978-3-319-31512-6_52-1 · Cited by 2

Novel cytokinetic ring components drive negative feedback in cortical contractilityPreprint

Bell, K. R., Werner, M. E., Doshi, A., Cortes, D. B., Sattler, A., Vuong-Brender, T. T. K., Labouesse, M., & Maddox, A. S. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/633743 · Cited by 2

Non cell-autonomous effect of astrocytes on cerebral cavernous malformationsPreprint

Lopez‐Ramirez, M. A., Soliman, S. I., Hale, P., Lai, C. C., Pham, A., Estrada, E. J., McCurdy, S., Girard, R., Verma, R., Moore, T., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.01.29.428891 · Cited by 2

Persistent Activation of Endothelial Cells is Linked to Thrombosis and Inflammation in Cerebral Cavernous Malformation DiseasePreprint

Gallego-Gutiérrez, H., Frías-Anaya, E., Bui, C., Zhao, L., Hsu, E., Indralingam, H. S., Körbelin, J., Trejo, J., Steinberg, J. D., Zemke, N. R., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.29.662238 · Cited by 3

DNA promoter methylation of CCM genes in human cerebral cavernous malformations: Importance of confirming MSP data through sequencing

Saban, D. V., Larisch, J., Nickel, A., Pierscianek, D., Dammann, P. R., Sure, U., & Zhu, Y. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104090 · Cited by 1

Management of cerebral cavernous malformations during pregnancy: a systematic review and case illustration

Aydın, H. A., Keskin, E., & Kalayci, M. (2026) · The Egyptian Journal of Neurology Psychiatry and Neurosurgery · doi:10.1186/s41983-026-01066-8 · Cited by 1

Rapamycin Partially Reverts Cavernoma Endothelial Cell Phenotype and, When Combined With Lapatinib, Ameliorates Chronic Lesions

García-Colomer, M., Martínez, J. E., Díaz-Gómez, L. A., Sartages, M., Esquinas-Román, E. M., Riobello, C., Martinez-Delgado, D., Gonzalez‐Perez, D., Gómez-Durán, A., Fidalgo, M., et al. (2026) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.71280 · Cited by 1

Epilepsy and Myoclonus

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Brain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes

Capitanio, J. F., & Mortini, P. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-23705-8_25 · Cited by 1

Physiological and Pathological Consequences of Vascular BMP Signaling

Benn, A., Haupt, J., Hildebrandt, S., Kaehler, C., & Knaus, P. I. (2017) · Springer eBooks · doi:10.1007/978-3-319-47507-3_17 · Cited by 2

Genetics and Genomics of Stroke

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YKL-40 can promote angiogenesis in sporadic cerebral cavernous malformation (CCM)

Shi, Y., Song, Y., Liu, P., & Li, P. (2019) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2019.03.035 · Cited by 1

Blood–Brain Barrier in Disease States

Dadas, A., Washington, J., Marchi, N., & Janigro, D. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813997-4.00002-5 · Cited by 1

Generation of Transgenic Lines of Zebrafish Expressing Fluorescently Tagged CCM Proteins to Study Their Function and Subcellular Localization Within the Vasculature

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Neuro-oculocutaneous Syndromes (Phakomatoses)

Binkley, E. M., Traboulsi, E. I., & Singh, A. D. (2019) · Springer eBooks · doi:10.1007/978-3-030-04113-7_9 · Cited by 1

The Phakomatoses

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Surgical Cavernous Malformations and Venous Anomalies

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HMGCR Pathway Mediates Cerebral-Vascular Stability and Angiogenesis in Developing Zebrafish

Eisa-Beygi, S. (2013) · uO Research (University of Ottawa) · doi:10.20381/ruor-3212

Familial occurrence of cerebral cavernous malformation in a Chinese family and treated by Gamma Knife radiosurgery

Chen, W., Wang, L., Li, T., Liu, F., & Chen, J. (2016) · Neurology Psychiatry and Brain Research · doi:10.1016/j.npbr.2016.11.005

Investigating the Role of mrck-1 in C. elegans Excretory Cell Development

Wallace, E. P. (2016) · TSpace (University of Toronto)

The CCM-3 Gene NetworkPreprint

Lant, B., Yu, B., Pal, S., Witvliet, D. K., Choi, S. J., Zhao, L., & Derry, W. B. (2018) · SSRN Electronic Journal · doi:10.2139/ssrn.3155876

Identificação de um novo motivo peptídico específico para a vasculatura cerebral e que diferencia as barreiras hematoenfálica e hematoretiniana

Tang, F. H. F. (2019) · doi:10.11606/t.46.2019.tde-04072019-095855

Definition and Structure of Cerebral Cavernous Malformations

Tanaka, M. (2020) · Springer eBooks · doi:10.1007/978-3-030-49406-3_2

The Phakomatoses

Yordi, S. F., Binkley, E. M., Traboulsi, E. I., & Singh, A. D. (2021) · Springer eBooks · doi:10.1007/978-3-319-90495-5_264-1

Cavernomas

Massimi, L., Kar, S., Giordano, M., & Bertalanffy, H. (2020) · Springer eBooks · doi:10.1007/978-3-319-72168-2_52

Beware of missed diagnosis in patients with multiple genetic diseases: a case report

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Medusa Head Sign What is its Importance?

Assad, M. J. C. (2022) · Biomedical Journal of Scientific & Technical Research · doi:10.26717/bjstr.2022.45.007164

CCM proteins are key players in redox signaling and oxidative stress regulation in Cerebral Cavernous Malformations

Finetti, F., Paradisi, L., & Trabalzini, L. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-19247-0.00018-7

Proteomics on Human Cerebral Cavernous Malformations Reveals Novel Biomarkers for the Disease PathologyPreprint

Magnusson, P. U., Jauhiainen, S., Onyeogaziri, F. C., Lazzaroni, F., Conze, L. L., Laakkonen, J. P., Laham-Karam, N., Laakso, A., Niemela, M. R., Jahromi, B. R., et al. (2023) · SSRN Electronic Journal · doi:10.2139/ssrn.4621089

Women in Cardiovascular Genetics and Systems Medicine

(2024) · Frontiers research topics · doi:10.3389/978-2-8325-4796-0

Behavioral impairments are linked to neuroinflammation in mice with Cerebral Cavernous Malformation diseasePreprint

Offenberger, J., Chen, B., Rossitto, L.-A. M., Jin, I., Conaboy, L. J., Gallego-Gutiérrez, H., Nelsen, B., Frías-Anaya, E., Gonzalez, D. J., Anagnostaras, S., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.05.29.596485

Monogenic causes of stroke

Markus, H. S., & Tan, R. Y. Y. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-822951-4.00018-7

High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteinsPreprint

Skowronek, D., Pilz, R. A., Saenko, V. V., Mellinger, L., Singer, D., Ribback, S., Weise, A., Claaßen, K., Büttner, C., Brockmann, E. M., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.04.626588

Neuro-Oculocutaneous Syndromes (Phakomatoses)

Binkley, E. M., Lozano, L. P., Traboulsi, E. I., & Singh, A. D. (2024) · Springer eBooks · doi:10.1007/978-3-031-72433-6_10

Retinal Vascular Tumors

Salvi, S. M., Bouhout, S., & Singh, A. D. (2024) · Springer eBooks · doi:10.1007/978-3-031-72433-6_3

Rapamycin reverts cavernoma endothelial cell phenotype and when combined with lapatinib ameliorates chronic lesionsPreprint

García-Colomer, M., Martínez, J. E., Díaz-Gómez, L. A., Sartages, M., Esquinas-Román, E. M., Riobello, C., Martinez-Delgado, D., Gonzalez‐Perez, D., Gómez-Durán, A., Fidalgo, M., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.11.03.686432

Integration of artificial intelligence and high-content screening enabled identification of drugs for long-term treatment of cerebral cavernous malformation diseasePreprint

Frías-Anaya, E., Gallego-Gutiérrez, H., Bui, C., Birrueta, J. O., Steinberg, J. D., Niesman, I. R., Gongol, B., Nguyen, B., Sawhney, A., Mizushima, Z., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2025.12.08.693036 · Cited by 1

Additional file 1 of ATPIF1 maintains normal mitochondrial structure which is impaired by CCM3 deficiency in endothelial cells

Wang, K., Chen, H., Zhou, Z., Zhang, H., Zhou, H. J., & Wang, M. (2021) · Figshare · doi:10.6084/m9.figshare.13550710

Additional file 2 of ATPIF1 maintains normal mitochondrial structure which is impaired by CCM3 deficiency in endothelial cells

Wang, K., Chen, H., Zhou, Z., Zhang, H., Zhou, H. J., & Wang, M. (2021) · Figshare · doi:10.6084/m9.figshare.13550713

Additional file 3 of ATPIF1 maintains normal mitochondrial structure which is impaired by CCM3 deficiency in endothelial cells

Wang, K., Chen, H., Zhou, Z., Zhang, H., Zhou, H. J., & Wang, M. (2021) · Figshare · doi:10.6084/m9.figshare.13550716

Obstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report

Khalil, G. E., Raad, E., Khalil, M.-A., & Hay, J. A. (2026) · Radiology Case Reports · doi:10.1016/j.radcr.2026.02.009

Control by CCM complex of the dialog between integrins and cadherins for the vascular stability

Lisowska, J. (2014) · theses.fr (ABES) · doi:10.70675/15295310zf24bz4fe3zb7d8z90acc0afe2a7

Lysyl Oxidase-Like 2 in vascular morphogenesis and extracellular matrix scaffolding

Umaña-Diaz, C. (2015) · theses.fr (ABES) · doi:10.70675/522f713ez40b7z421fz8cfdz5a212cef365d

Étude de la vascularisation intra-nerveuse dans les neuropathies périphériques induites par l'oxaliplatine : vers de nouvelles pistes thérapeutiques

Durand, J. (2024) · theses.fr (ABES) · doi:10.70675/5bc9c28bz2375z4c64z99dazf463bfa284dc

Human stem cell models in cerebral cavernous malformations

Wang, Q., Sun, J., Zhu, X., Yu, T., & Xiao, X. (2026) · Stem Cell Research & Therapy · doi:10.1186/s13287-026-05081-7

Modulatory role of shear stress in cerebral cavernous malformation

Zheng, M., Wu, W., Liu, J., & Zheng, X. (2026) · Current Opinion in Physiology · doi:10.1016/j.cophys.2026.100971

Endothelial estrogen receptor alpha (ESR1) regulates cerebral cavernous malformation pathogenesis via MEKK3–KLF signaling pathway

Sadegh, H. R., Chen, L. Z., Yu, S., Idrees, S., Foley, M., Paudel, K. R., Li, J., Zhao, Y., & Choi, J. P. (2026) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1177/0271678x261468891

The kinase inhibitor dabrafenib halts progression of cerebral cavernous malformations in a BRAF-independent manner

Arce, M., Huang, H., Rorsman, C., Erzar, I., Oldenburg, J., Sun, Y., Smith, R., Onyeogaziri, F. C., Barbera, S., Ahlstrand, F. C., et al. (2026) · Science Translational Medicine · doi:10.1126/scitranslmed.adr0448

YAP Fuels Cerebral Cavernous Malformations by Regulating KLF4 Transcriptional Activity and Protein Stability

Ye, T., Zheng, Q., Hu, Z., Fan, H., Sun, Z., Li, X., Mo, H., 常承东, Xu, Y., Wang, K., et al. (2026) · MedComm · doi:10.1002/mco2.71086

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells

Riolo, G., Ricci, C., & Battistini, S. (2021) · Cells · doi:10.3390/cells10030704 · Cited by 42

From Genes and Mechanisms to Molecular-Targeted Therapies: The Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease

Retta, S. F., Perrelli, A., Trabalzini, L., & Finetti, F. (2020) · Methods in molecular biology · doi:10.1007/978-1-0716-0640-7_1 · Cited by 20

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM

Riant, F., Bergametti, F., Ayrignac, X., Boulday, G., & Tournier‐Lasserve, E. (2010) · FEBS Journal · doi:10.1111/j.1742-4658.2009.07535.x · Cited by 184

Cerebral Cavernous Malformation Proteins in Barrier Maintenance and Regulation

Wei, S., Li, Y., Polster, S. P., Weber, C. R., Awad, I. A., & Shen, L. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21020675 · Cited by 32

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

Pagenstecher, A., Stahl, S., Sure, U., & Felbor, U. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn420 · Cited by 209