• Publications (ORCID: 0000-0001-9776-5701)

  •  Scientific articles
  1. Franca M, Providência J, Castela G, Patrício D, Sousa IS, Ambrósio AF, Alves CH, Marques JP. CLINICAL AND HISTOPATHOLOGICAL FINDINGS IN JALILI SYNDROME. Ophthalmol Retina. 2024 Nov 8;. doi: 10.1016/j.oret.2024.11.002. [Epub ahead of print] PubMed PMID: 39522753.
  2. Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration. Gouveia N,  Chukwunalu O, Oliveira C, Alves CH, Silva R, Murta J, Marques JM. Sci Rep. 2024 Jul 2;14(1):15189. doi: 10.1038/s41598-024-66170-2. PMID: 38956231. 
  3. Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population. Marques JP, Machado Soares R, Simão S, Abuzaitoun R, Andrews C, Alves CH, Ambrósio AF, Murta J, Silva R, Abalem MF, Jayasundera KT. Ophthalmic Genet. 2023 Mar 22:1-7. doi: 10.1080/13816810.2023.2191708. PMID: 36946380.
  4. TRAP1 Is Expressed in Human Retinal Pigment Epithelial Cells and Is Required to Maintain their Energetic Status. Ramos Rego I, Silvério D, Eufrásio MI, Pinhanços SS, Lopes da Costa B, Teixeira J, Fernandes H, Kong Y, Li Y, Tsang SH, Oliveira PJ, Fernandes R, Quinn PMJ, Santos PF, Ambrósio AF, Alves CH. Antioxidants (Basel). 2023 Feb 4;12(2):381. doi: 10.3390/antiox12020381. PMID: 36829938.
  5. EYS-ASSOCIATED RETINAL DEGENERATION: NATURAL HISTORY, GENETIC LANDSCAPE AND PHENOTYPIC SPECTRUM. Soares RM, Carvalho AL, Simão S, Soares CA, Raimundo M, Alves CH, Ambrósio AF, Murta J, Saraiva J, Silva R, Marques JP.Ophthalmol Retina. 2023 Feb 8:S2468-6530(23)00054-4. doi: 10.1016/j.oret.2023.02.001. Online ahead of print.PMID: 3676445.
  6. IL-23 receptor deficiency results in lower bone mass via indirect regulation of bone formation. Razawy W, Alves CH, Koedam M, Asmawidjaja PS, Mus AMC, Oukka M, Leenen PJM, Visser JA, van der Eerden BCJ, Lubberts E.Sci Rep. 2021 May 13;11(1):10244. doi: 10.1038/s41598-021-89625-2. PMID: 33986359.
  7. Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb1. Boon N, Alves CH, Mulder AA, Andriessen CA, Buck TM, Quinn PMJ, Vos RM, Koster AJ, Jost CR, Wijnholds J.Int J Mol Sci. 2021 Mar 30;22(7):3563. doi: 10.3390/ijms22073563. PMID: 33808129.
  8. AAV- CRB2 protects against vision loss in an inducible CRB1 retinitis pigmentosa mouse model.  Buck TM, Vos RM, Alves CH, Wijnholds J. Mol Ther Methods Clin Dev, 2020 Dec 25;20:423-441.  
    1. DOI: 10.1016/j.omtm.2020.12.012. 
    2. PMID: 33575434.
  9. Crumbs2 Mediates Ventricular Layer Remodelling to Form the Spinal Cord Central Canal. Tait C, Chinnaiya K, Manning E, Murtaza M, Ashton JP,  Furley N, Hill CJ, Alves CH, Wijnholds J, Erdmann KS, Furley A, Rashbass P, Das RM, Storey KG, Placzek M. PLoS Biol, 2020;8
     (3), e3000470. 
  10. DOI: 10.1371/journal.pbio.3000470.
  11. PMID: 32150534.
    12.  
  12. CD4 + CCR6 + T Cells, but Not γδ T Cells, Are Important for the IL-23R-dependent Progression of Antigen-Induced Inflammatory Arthritis in Mice. Razawy W, Asmawidjaja PS, Mus AM, Salioska N, Davelaar N, Kops N, Oukka M, Alves CH, Lubberts E. Eur J Immunol. 2019;10.1002/eji.201948112. doi:10.1002/eji.201948112. PMID: 31778214.
  13. CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity. Alves CH, Boon N, Mulder AA, Koster AJ, Jost CR, Wijnholds J.  2019 Aug 21;20(17). pii: E4069. doi: 10.3390/ijms20174069. PMID: 31438467.
  14. Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5. Quinn PM, Buck TM, Mulder AA, Ohonin C, Alves CH, Vos RM, Bialecka M, van Herwaarden T, van Dijk EHC, Talib M, Freund C, Mikkers HMM, Hoeben RC, Goumans MJ, Boon CJF, Koster AJ, Chuva de Sousa Lopes SM, Jost CR, Wijnholds J. Stem Cell Reports. 2019 Mar 22. pii: S2213-6711(19)30087-6. doi: 10.1016/j.stemcr.2019.03.002. PMID: 30956116
  15. Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype.  Quinn PM, Mulder AA, Alves CH, Desrosiers M, de Vries SI, Klooster J, Dalkara D, Koster AJ, Jost CR, Wijnholds J. Hum Mol Genet. 2019 Jan 1;28(1):105-123. doi: 10.1093/hmg/ddy337. 
    PMID:
     
    30239717

  16. CRB2 in immature photoreceptors determines the superior-inferior symmetry of the developing retina to maintain retinal structure and function.  Quinn PM, Alves CH, Klooster J, Wijnholds J. Hum Mol Genet. 2018 Sep 15;27(18):3137-3153. doi: 10.1093/hmg/ddy194. PMID: 29893966
  17. NTPDase2 as a Surface Marker to Isolate Flow Cytometrically a Müller Glial Cell Enriched Population from Dissociated Neural Retinae. Hoek RM, Quinn PM, Alves CH, Hooibrink B, Wijnholds J. J Neurosci Neurosurg. 2018 Aug;1(4):117. doi: 0.31021/jnn.20181117.
  18. Crumbs 2 prevents cortical abnormalities in mouse dorsal telencephalon.  Dudok JJ , Murtaza M,  Alves CH,  Rashbass P ,  Wijnholds J.  2016 Jul;108:12-23. doi: 10.1016/j.neures.2016.01.001. Epub 2016 Jan 21.
  19. Dendritic Cell-Specific Deletion of β-Catenin Results in Fewer Regulatory T-Cells without Exacerbating Autoimmune Collagen-Induced Arthritis.  Alves CH, Ober-Blöbaum JL, Brouwers-Haspels I, Asmawidjaja PS, Mus AM, Razawy W, Molendijk M, Clausen BE, Lubberts E. PLoS One. 2015 Nov 20;10(11):e0142972. doi: 10.1371/journal.pone.0142972. eCollection 2015. PMID: 26587585
  20. Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models.  Pellissier LP, Quinn PM, Alves CH, Vos RM, Klooster J, Flannery JG, Heimel JA, Wijnholds J. Hum Mol Genet. 2015 Jun1;24(11):3104-18. doi: 10.1093/hmg/ddv062. Epub 2015 Feb 20. PMID: 25701872
  21. Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa.  Alves CH, Pellissier LP, Vos RM, Garcia Garrido M, Sothilingam V, Seide C, Beck SC, Klooster J, Furukawa T, Flannery JG, Verhaagen J, Seeliger MW, Wijnholds J. Hum Mol Genet. 2014 Jul 1;23(13):3384-401. doi: 10.1093/hmg/ddu048. Epub 2014 Feb 2. PMID: 24493795
  22. Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis.  Pellissier LP, Alves CH, Quinn PM, Vos RM, Tanimoto N, Lundvig DM, Dudok JJ, Hooibrink B, Richard F, Beck SC, Huber G, Sothilingam V, Garcia Garrido M, Le Bivic A, Seeliger MW, Wijnholds J. PLoS Genet. 2013;9(12):e1003976. doi: 10.1371/journal.pgen.1003976. Epub 2013 Dec 5. PMID: 24339791
  23. Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background.  Alves CH, Bossers K, Vos RM, Essing AH, Swagemakers S, van der Spek PJ, Verhaagen J, Wijnholds J. PLoS One. 2013 Dec 6;8(12):e82532. doi: 10.1371/journal.pone.0082532. eCollection 2013. PMID: 24324803
  24. Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.  Alves CH, Sanz AS, Park B, Pellissier LP, Tanimoto N, Beck SC, Huber G, Murtaza M, Richard F, Sridevi Gurubaran I, Garcia Garrido M, Levelt CN, Rashbass P, Le Bivic A, Seeliger MW, Wijnholds J. Hum Mol Genet. 2013 Jan 1;22(1):35-50. doi: 10.1093/hmg/dds398. Epub 2012 Sep 21. PMID: 23001562
  25. PALS1 is essential for retinal pigment epithelium structure and neural retina stratification.  Park B, Alves CH, Lundvig DM, Tanimoto N, Beck SC, Huber G, Richard F, Klooster J, Andlauer TF, Swindell EC, Jamrich M, Le Bivic A, Seeliger MW, Wijnholds J. J Neurosci. 2011 Nov 23;31(47):17230-41. doi: 10.1523/JNEUROSCI.4430-11.2011. PMID: 22114289
  26. Progesterone enhances transthyretin expression in the rat choroid plexus in vitro and in vivo via progesterone receptor.  Quintela T, Gonçalves I, Martinho A, Alves CH, Saraiva MJ, Rocha P, Santos CR. J Mol Neurosci. 2011 Jul;44(3):152-8. doi: 10.1007/s12031-010-9398-x. Epub 2010 Jun 10. PMID: 20535645
  27. 17beta-estradiol induces transthyretin expression in murine choroid plexus via an oestrogen receptor dependent pathway.  Quintela T, Gonçalves I, Baltazar G, Alves CH, Saraiva MJ, Santos CR. Cell Mol Neurobiol. 2009 Jun;29(4):475-83. doi: 10.1007/s10571-008-9339-1. Epub 2009 Jan 7. PMID: 19130215
  28. Androgen receptor is expressed in murine choroid plexus and downregulated by 5alpha-dihydrotestosterone in male and female mice.  Alves CH, Gonçalves I, Socorro S, Baltazar G, Quintela T, Santos CR. J Mol Neurosci. 2009 May;38(1):41-9. doi: 10.1007/s12031-008-9157-4. Epub 2008 Nov 18. PMID: 19015999
  29. 5Alpha-dihydrotestosterone up-regulates transthyretin levels in mice and rat choroid plexus via an androgen receptor independent pathway.  Quintela T, Alves CH, Gonçalves I, Baltazar G, Saraiva MJ, Santos CR. Brain Res. 2008 Sep 10;1229:18-26. doi: 10.1016/j.brainres.2008.06.095. Epub 2008 Jul 2. PMID: 18634756
  30. Transthyretin is up-regulated by sex hormones in mice liver.  Gonçalves I, Alves CH, Quintela T, Baltazar G, Socorro S, Saraiva MJ, Abreu R, Santos CR. Mol Cell Biochem. 2008 Oct;317(1-2):137-42. doi: 10.1007/s11010-008-9841-2. Epub 2008 Jun 22. PMID:18568387

  • Review papers
  1. TRAP1 in Oxidative Stress and Neurodegeneration. Ramos Rego I, Santos Cruz B, Ambrósio AF, Alves CH. Antioxidants (Basel). 2021 Nov 19;10(11). doi: 10.3390/antiox10111829. Review. PubMed PMID: 34829705
  2. PINK1/PARKIN signalling in neurodegeneration and neuroinflammation. Quinn PMJ, Moreira PI, Ambrósio AF, Alves CH. Acta Neuropathol Commun. 2020 Nov 9;8(1):189. doi: 10.1186/s40478-020-01062-w. PMID: 33168089.
  3. Microglia Contribution to the Regulation of the Retinal and Choroidal Vasculature in Age-Related Macular Degeneration. Alves CH, Fernandes R, Santiago AR, Ambrósio AF. Cells. 2020 May 14;9(5). doi: 10.3390/cells9051217. PMID: 32423062.
  4. Animal Models of Bone Loss in Inflammatory Arthritis: from Cytokines in the Bench to Novel Treatments for Bone Loss in the Bedside-a Comprehensive Review.  Alves CH, Farrell E, Vis M, Colin EM, Lubberts E. Clin Rev Allergy Immunol. 2016 Aug;51(1):27-47. doi: 10.1007/s12016-015-8522-7. PMID: 26634933.
  5. The CRB1 and adherens junction complex proteins in retinal development and maintenance.  Alves CH, Pellissier LP, Wijnholds J. Prog Retin Eye Res. 2014 May;40:35-52. doi: 10.1016/j.preteyeres.2014.01.001. Epub 2014 Feb 6. PMID: 24508727.
  • Book chapters
  1. Megabase Deletion of the Human EYS Locus Using CRISPR/Cas9. da Costa BL, Knudsen AS, Alves CH, Tsang SH, Quinn PMJ. . Adv Exp Med Biol. 2025;1468:107-111. doi: 10.1007/978-3-031-76550-6_18. PubMed PMID: 39930181.
  2. Genetic Landscape of Nonsyndromic Retinitis Pigmentosa in Portugal. Chukwunalu O, Ambrósio AF, Carvalho AL, Quinn PMJ, Marques JP, Alves CH. Adv Exp Med Biol. 2025;1468:81-86. doi: 10.1007/978-3-031-76550-6_14. PubMed PMID: 39930177.
  3. Microglial Cell Dysfunction in CRB1-Associated Retinopathies. Alves CH, Wijnholds J. Adv Exp Med Biol, 1185, 159-163 2019; 
    1. PMID: 31884605
      2.  
    2. DOI: 10.1007/978-3-030-27378-1_26.

  4.  AAV Gene Augmentation Therapy for CRB1-Associated Retinitis Pigmentosa.  

    Alves CH, Wijnholds J. 

    Methods Mol Biol. 2018;1715:135-151. 

  5. doi: 10.1007/978-1-4939-7522-8_10. 

    6. PMID:
     
    291885.
  6. AAV-Mediated Gene Therapy for CRB1-Hereditary Retinopathies. Alves CH, Wijnholds J. Intechopen. 2018 Nov;1-19. doi: 10.5772/intechopen.79308.
  7. Experimental Arthritis Mouse Models Driven by Adaptive and/or Innate Inflammation. Razawy W, Alves CH, Molendijk M, Asmawidjaja PS, Mus AMC, Lubberts E. Methods Mol Biol. 2017;1559:391-410. doi: 10.1007/978-1-4939-6786-5_27. PMID: 28063059.

  • Editorials
  1. Oxidative Stress, Neuroinflammation and Neurodegeneration: The Chicken, the Egg and the Dinosaur. Quinn PMJ, Ambrósio AF, Alves CH. Antioxidants. 2022, 11, 1554. https://doi.org/10.3390/antiox11081554



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