All Stories

  1. Special Issue “Retinal Diseases and Macular Degeneration: Cell Biology and Molecular Genetics”

    Article • International Journal of Molecular Sciences, April 2026, MDPI AG

    Dr Luigi Donato

  2. Association of aryl hydrocarbon receptor gene polymorphisms with hashimoto’s thyroiditis

    Article • Journal of Endocrinological Investigation, April 2026, Springer Science + Business Media

    Dr Luigi Donato

  3. Oxidative Stress Signaling and Regenerative Responses in a Larval Zebrafish Model of Retinal Light Damage

    Article • Antioxidants, March 2026, MDPI AG

    Dr Luigi Donato

  4. Circulating lncRNAs Remark Expression Profile of Cerebrovascular Malformation Endothelial Cells

    Article • The FASEB Journal, February 2026, Wiley

    Dr Luigi Donato

  5. ASSOCIATION BETWEEN THREE POLYMORPHISMS IN RP1 HOTSPOT REGION AND RISK OF RETINITIS PIGMENTOSA IN ITALIAN PATIENTS: A PILOT STUDY

    Article • EuroMediterranean Biomedical Journal, January 2026, PAGEPress Publications

    Dr Luigi Donato

  6. NOVEL INTRONIC VARIANTS IN UNCONVENTIONAL GENE CLUSTER COULD LEAD TO THE IDENTIFICATION OF A NEW RETINITIS PIGMENTOSA PHENOTYPE

    Article • EuroMediterranean Biomedical Journal, January 2026, PAGEPress Publications

    Dr Luigi Donato

  7. Comprehensive transcriptomic analysis reveals canonical and novel pathways modulated by nanoceria in mammalian retinal degeneration

    Article • Scientific Reports, January 2026, Springer Science + Business Media

    PhD Vincenzo Flati, Dr Luigi Donato

  8. Combined exome and RNA-seq analysis in patients with rare non-syndromic inherited brain arteriovenous malformation suggests a novel function for PTPN13 in arterial specification

    Article • Thrombosis Research, January 2026, Elsevier

    Dr Luigi Donato

  9. Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity

    Article • Progress in Retinal and Eye Research, November 2025, Elsevier

    Dr Luigi Donato

  10. VARIANTS OF THE MOLECULAR CHAPERONE HSPA8 AND HSPA1A GENES IN TRIMETHYLAMINURIA: A PILOT STUDY

    Article • EuroMediterranean Biomedical Journal, October 2025, PAGEPress Publications

    Dr Luigi Donato

  11. Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy

    Article • International Journal of Molecular Sciences, September 2025, MDPI AG

    Dr Luigi Donato

  12. QMR® and Patient Blood-Derived Secretome Modulate RPE microRNA Networks Under Oxidative Stress

    Article • International Journal of Molecular Sciences, September 2025, MDPI AG

    Dr Luigi Donato

  13. QMR<sup>®</sup> and Patient Blood-Derived-Secretome Synergistically Restore RPE microRNA Networks to Repress Apoptotic and Fibrotic Pathways under Oxidative Stress

    Article • August 2025, MDPI AG

    Dr Luigi Donato

  14. First report of PDCD10 somatic mutation in liver cavernous malformation

    Article • Molecular Biology Reports, May 2025, Springer Science + Business Media

    Dr Luigi Donato

  15. State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics

    Article • Journal of Clinical Medicine, May 2025, MDPI AG

    Dr Luigi Donato

  16. Mechanotransduction in Development: A Focus on Angiogenesis

    Article • Biology, March 2025, MDPI AG

    Dr Luigi Donato

  17. Multifaceted disruption of AMPA receptor signaling by CACNG8 variants: Integrated evidence from human genetics and molecular simulation

    Article • Computational and Structural Biotechnology Journal, January 2025, American Association for the Advancement of Science

    Dr Luigi Donato

  18. Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation

    Article • Heliyon, August 2024, Elsevier

    Dr Luigi Donato

  19. The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis

    Article • Heliyon, July 2024, Elsevier

    Dr Luigi Donato

  20. From powerhouse to regulator: The role of mitoepigenetics in mitochondrion-related cellular functions and human diseases

    Article • Free Radical Biology and Medicine, June 2024, Elsevier

    Dr Luigi Donato

  21. Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration

    Article • Heliyon, April 2024, Elsevier

    Dr Luigi Donato

  22. Efficacy of an experimental gaseous ozone-based sterilization method for clear aligners

    Article • The Angle Orthodontist, January 2024, The Angle Orthodontist (EH Angle Education & Research Foundation)

    Dr Luigi Donato

  23. Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies

    Article • Biomedicines, December 2023, MDPI AG

    Dr Luigi Donato

  24. Human retinal secretome: A cross-link between mesenchymal and retinal cells

    Article • World Journal of Stem Cells, July 2023, Baishideng Publishing Group Co., Limited (formerly WJG Press)

    Dr Luigi Donato

  25. How Many Alzheimer–Perusini’s Atypical Forms Do We Still Have to Discover?

    Article • Biomedicines, July 2023, MDPI AG

    Dr Luigi Donato

  26. Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, June 2023, Elsevier

    Dr Luigi Donato

  27. Impaired Nuclear and Mitochondrial Cross-Talk Might Alter mtDNA Epigenetic Regulation in Maternally Inherited Diabetes- and Deafness-Affected Patients

    Article • March 2023, MDPI AG

    Dr Luigi Donato

  28. The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment

    Article • PLOS One, December 2022, PLOS

    Dr Luigi Donato

  29. Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs

    Article • AJP Cell Physiology, October 2022, American Physiological Society

    Dr Luigi Donato

  30. Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration

    Article • Antioxidants, September 2022, MDPI AG

    Dr Luigi Donato

  31. Editome landscape of CCM-derived endothelial cells

    Article • RNA Biology, June 2022, Taylor & Francis

    Dr Luigi Donato

  32. Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis

    Article • Microvascular Research, May 2022, Elsevier

    Dr Luigi Donato

  33. Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations

    Article • Neural Regeneration Research, January 2022, Medknow

    Dr Luigi Donato

  34. Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes

    Article • Molecules, November 2021, MDPI AG

    Dr Luigi Donato

  35. Absence of mutations at <em>SERPINI1</em> gene in a cohort of patients with Cerebral Cavernous Malformations

    Article • Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale, September 2021, PAGEPress Publications

    Dr Luigi Donato

  36. N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells

    Article • Experimental Eye Research, August 2021, Elsevier

    Dr Luigi Donato

  37. Oxidative Stress and the Neurovascular Unit

    Article • Life, July 2021, MDPI AG

    Dr Luigi Donato

  38. New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies

    Article • Neural Computing and Applications, June 2021, Springer Science + Business Media

    Dr Luigi Donato

  39. 93rd National Congress of the Italian Society of Experimental Biology | Palermo, Italy, 22-25 April 2021

    Article • Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale, April 2021, PAGEPress Publications

    Dr Luigi Donato

  40. Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling

    Article • International Journal of Molecular Sciences, March 2021, MDPI AG

    Dr Luigi Donato

  41. Gut-Brain Axis Cross-Talk and Limbic Disorders as Biological Basis of Secondary TMAU

    Article • Journal of Personalized Medicine, January 2021, MDPI AG

    Dr Luigi Donato

  42. New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?

    Article • International Journal of Molecular Sciences, December 2020, MDPI AG

    Dr Luigi Donato

  43. Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, December 2020, Elsevier

    Dr Luigi Donato

  44. Advances in Bioinformatics, Biostatistics and Omics Sciences

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  45. An Innovative Gene Prioritization Pipeline for DNA-Sequencing Analyses

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  46. Innovations in Data Visualization for Straightforward Interpretation of Nucleic Acid Omics Outcomes

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  47. New Integrated Differential Expression Approach for RNA-Seq Data Analysis

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  48. New Integrated Mitochondrial DNA Bioinformatics Pipeline to Improve Quality Assessment of Putative Pathogenic Variants from NGS Experiments

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  49. Variant Calling on RNA Sequencing Data: State of Art and Future Perspectives

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  50. Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin

    Article • Journal of Clinical Pharmacy and Therapeutics, November 2020, Wiley

    Dr Luigi Donato

  51. Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells

    Article • Antioxidants, November 2020, MDPI AG

    Dr Luigi Donato

  52. Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline

    Article • Antioxidants, November 2020, MDPI AG

    Dr Luigi Donato

  53. Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis

    Article • International Journal of Molecular Sciences, June 2020, MDPI AG

    Dr Luigi Donato

  54. Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa

    Article • Antioxidants, May 2020, MDPI AG

    Dr Luigi Donato

  55. Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa

    Article • Antioxidants, April 2020, MDPI AG

    Dr Luigi Donato

  56. Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies

    Article • Antioxidants, April 2020, MDPI AG

    Dr Luigi Donato

  57. High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations

    Article • Frontiers in Genetics, February 2020, Frontiers

    Dr Luigi Donato

  58. Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing?

    Article • Journal of Ocular Diseases and Therapeutics, December 2019, Savvy Science Publisher

    Dr Luigi Donato

  59. Retraction Note: Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis

    Article • Scientific Reports, September 2019, Springer Science + Business Media

    Dr Luigi Donato

  60. Aged fingerprints for DNA profile: First report of successful typing

    Article • Forensic Science International, September 2019, Elsevier

    Dr Luigi Donato

  61. Role of oxidative stress in Retinitis pigmentosa: new involved pathways by an RNA-Seq analysis

    Article • Cell Cycle, December 2018, Taylor & Francis

    Dr Luigi Donato

  62. Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis

    Article • Neurological Sciences, December 2018, Springer Science + Business Media

    Dr Luigi Donato

  63. Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

    Article • Frontiers in Neurology, November 2018, Frontiers

    Dr Luigi Donato

  64. Corrigendum to: miRNA expression profile of retinal pigment epithelial cells under oxidative stress conditions

    Article • FEBS Open Bio, October 2018, Wiley

    Dr Luigi Donato

  65. GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population

    Article • Molecular Biology Reports, August 2018, Springer Science + Business Media

    Dr Luigi Donato

  66. Bioinformatic Analysis of a “Functional Cluster” Probably Related to Retinitis Pigmentosa

    Article • The Open Bioinformatics Journal, May 2018, Bentham Science Publishers

    Dr Luigi Donato

  67. Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

    Article • Investigative Ophthalmology & Visual Science, February 2018, Association for Research in Vision and Ophthalmology (ARVO)

    Dr Luigi Donato

  68. miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions

    Article • FEBS Open Bio, January 2018, Wiley

    Dr Luigi Donato

  69. Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations

    Article • Journal of the Neurological Sciences, September 2017, Elsevier

    Dr Luigi Donato

  70. Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls

    Article • Journal of Psychiatric Research, August 2017, Elsevier

    Dr Luigi Donato

  71. A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

    Article • Human Genomics, August 2017, Springer Science + Business Media

    Dr Luigi Donato

  72. Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data

    Article • International Journal of Molecular Medicine, March 2017, Spandidos Publications

    Dr Luigi Donato

  73. Corrigendum to ‘Role of neurodevelopment involved genes in psychiatric comorbidities and modulation of inflammatory processes in Alzheimer's disease’ [J. Neurol. Sci. 370 (November 2016) 162–166]

    Article • Journal of the Neurological Sciences, January 2017, Elsevier

    Dr Luigi Donato

  74. Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations

    Article • Journal of Molecular Neuroscience, December 2016, Springer Science + Business Media

    Dr Luigi Donato

  75. Role of neurodevelopment involved genes in psychiatric comorbidities and modulation of inflammatory processes in Alzheimer's disease

    Article • Journal of the Neurological Sciences, November 2016, Elsevier

    Dr Luigi Donato

  76. CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study

    Article • BMC Medical Genetics, October 2016, Springer Science + Business Media

    Dr Luigi Donato

  77. Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls

    Article • European Neuropsychopharmacology, October 2016, Elsevier

    Dr Luigi Donato

  78. First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation

    Article • Journal of Digestive Diseases, September 2016, Wiley

    Dr Luigi Donato

  79. Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations

    Article • Journal of Molecular Neuroscience, June 2015, Springer Science + Business Media

    Dr Luigi Donato