Gould Lab
Selected Publications
For a full list of publications, please click here.
Also, see attached list of papers.
Multimodal neuroimaging of Col4a1-mutant mouse models of Gould syndrome.
Gao X, Wang X, Labelle-Dumais C, Gould DB, Chaumeil MM. Front Neurosci. 2025 Nov 12;19:1639871. doi: 10.3389/fnins.2025.1639871. PMID: 41311701; PMCID: PMC12647094.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12647094/
Gao X, Wang X, Labelle-Dumais C, Gould DB, Chaumeil MM. Front Neurosci. 2025 Nov 12;19:1639871. doi: 10.3389/fnins.2025.1639871. PMID: 41311701; PMCID: PMC12647094.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12647094/
Collagen IV in Gould syndrome and Alport syndrome.
Massoudi D, Miner JH, Gould DB. Nat Rev Nephrol. 2025 Nov;21(11):778-793. doi: 10.1038/s41581-025-00982-x. Epub 2025 Jul 31. PMID: 40745060.
https://www.nature.com/articles/s41581-025-00982-x
Massoudi D, Miner JH, Gould DB. Nat Rev Nephrol. 2025 Nov;21(11):778-793. doi: 10.1038/s41581-025-00982-x. Epub 2025 Jul 31. PMID: 40745060.
https://www.nature.com/articles/s41581-025-00982-x
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.
Tambala D, Vassar R, Snow J, Balestrini S, Bersano A, Guey S, Bonaventura E, Signorini S, Sartori S, Bertini E, Tonduti D, Parazzini C, Macchiaiolo M, Pelizza MF, Pichiecchio A, Massella L, Coste T, Orcesi S, Politano D, Bacci G, Marziali E, Dollfus H, Mandelli A, Chinali M, Plaisier E, Simioni P, Colombatti R, Guerrini R, Tournier-Lasserve E, Gould DB, Musolino PL. Genet Med. 2025 Sep;27(9):101514. doi: 10.1016/j.gim.2025.101514. Epub 2025 Jul 2. PMID: 40616396.v
https://www.sciencedirect.com/science/article/pii/S1098360025001613?via%3Dihub
Tambala D, Vassar R, Snow J, Balestrini S, Bersano A, Guey S, Bonaventura E, Signorini S, Sartori S, Bertini E, Tonduti D, Parazzini C, Macchiaiolo M, Pelizza MF, Pichiecchio A, Massella L, Coste T, Orcesi S, Politano D, Bacci G, Marziali E, Dollfus H, Mandelli A, Chinali M, Plaisier E, Simioni P, Colombatti R, Guerrini R, Tournier-Lasserve E, Gould DB, Musolino PL. Genet Med. 2025 Sep;27(9):101514. doi: 10.1016/j.gim.2025.101514. Epub 2025 Jul 2. PMID: 40616396.v
https://www.sciencedirect.com/science/article/pii/S1098360025001613?via%3Dihub
A multifunction murine Col4a1 allele reveals potential gene therapy parameters for Gould syndrome.
Mao M, Ishikawa Y, Labelle-Dumais C, Wang X, Kuo YM, Gaffney UB, Smith ME, Abdala CN, Lebedev MD, Paradee WJ, Gould DB. J Cell Biol. 2025 Jun 2;224(6):e202409153. doi: 10.1083/jcb.202409153. Epub 2025 Apr 25. PMID: 40279671; PMCID: PMC12029515.
https://rupress.org/jcb/article/224/6/e202409153/277658/A-multifunction-murine-Col4a1-allele-reveals
Mao M, Ishikawa Y, Labelle-Dumais C, Wang X, Kuo YM, Gaffney UB, Smith ME, Abdala CN, Lebedev MD, Paradee WJ, Gould DB. J Cell Biol. 2025 Jun 2;224(6):e202409153. doi: 10.1083/jcb.202409153. Epub 2025 Apr 25. PMID: 40279671; PMCID: PMC12029515.
https://rupress.org/jcb/article/224/6/e202409153/277658/A-multifunction-murine-Col4a1-allele-reveals
Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.
Labelle-Dumais C, Mazur C, Kaya S, Obata Y, Lee B, Acevedo C, Alliston T, Gould DB. Matrix Biol. 2024 Nov;133:1-13. doi: 10.1016/j.matbio.2024.07.005. Epub 2024 Aug 6. PMID: 39097038; PMCID: PMC12032920.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12032920/
Labelle-Dumais C, Mazur C, Kaya S, Obata Y, Lee B, Acevedo C, Alliston T, Gould DB. Matrix Biol. 2024 Nov;133:1-13. doi: 10.1016/j.matbio.2024.07.005. Epub 2024 Aug 6. PMID: 39097038; PMCID: PMC12032920.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12032920/
Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.
Cozzitorto C, Peltz Z, Flores LM, Della Santina L, Mao M, Gould DB. Cells Dev. 2024 Sep;179:203926. doi: 10.1016/j.cdev.2024.203926. Epub 2024 May 9. PMID: 38729574; PMCID: PMC12032921.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12032921/
Cozzitorto C, Peltz Z, Flores LM, Della Santina L, Mao M, Gould DB. Cells Dev. 2024 Sep;179:203926. doi: 10.1016/j.cdev.2024.203926. Epub 2024 May 9. PMID: 38729574; PMCID: PMC12032921.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12032921/
TGFβ Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage.
Mao M, Kuo YM, Yu AK, Labelle-Dumais C, Ou Y, Gould DB. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):15. doi: 10.1167/iovs.65.5.15. PMID: 38717426; PMCID: PMC11090142.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11090142/
Mao M, Kuo YM, Yu AK, Labelle-Dumais C, Ou Y, Gould DB. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):15. doi: 10.1167/iovs.65.5.15. PMID: 38717426; PMCID: PMC11090142.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11090142/
Tracking the role of Aire in immune tolerance to the eye with a TCR transgenic mouse model.
Yin M, Smith JA, Chou M, Chan J, Jittayasothorn Y, Gould DB, Caspi RR, Anderson MS, DeFranco AL. Proc Natl Acad Sci U S A. 2024 Jan 30;121(5):e2311487121. doi: 10.1073/pnas.2311487121. Epub 2024 Jan 23. PMID: 38261611; PMCID: PMC10835137.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10835137/
Yin M, Smith JA, Chou M, Chan J, Jittayasothorn Y, Gould DB, Caspi RR, Anderson MS, DeFranco AL. Proc Natl Acad Sci U S A. 2024 Jan 30;121(5):e2311487121. doi: 10.1073/pnas.2311487121. Epub 2024 Jan 23. PMID: 38261611; PMCID: PMC10835137.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10835137/
Impaired intracellular Ca2+ signaling contributes to age-related cerebral small vessel disease in Col4a1 mutant mice.
Yamasaki E, Thakore P, Ali S, Sanchez Solano A, Wang X, Gao X, Labelle-Dumais C, Chaumeil MM, Gould DB, Earley S. Sci Signal. 2023 Nov 14;16(811):eadi3966. doi: 10.1126/scisignal.adi3966. Epub 2023 Nov 14. PMID: 37963192; PMCID: PMC10726848.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10726848/
Yamasaki E, Thakore P, Ali S, Sanchez Solano A, Wang X, Gao X, Labelle-Dumais C, Chaumeil MM, Gould DB, Earley S. Sci Signal. 2023 Nov 14;16(811):eadi3966. doi: 10.1126/scisignal.adi3966. Epub 2023 Nov 14. PMID: 37963192; PMCID: PMC10726848.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10726848/
Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.
Ishikawa Y, Bonna A, Gould DB, Farndale RW. Int J Mol Sci. 2023 Oct 13;24(20):15156. doi: 10.3390/ijms242015156. PMID: 37894834; PMCID: PMC10607241.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10607241/
Ishikawa Y, Bonna A, Gould DB, Farndale RW. Int J Mol Sci. 2023 Oct 13;24(20):15156. doi: 10.3390/ijms242015156. PMID: 37894834; PMCID: PMC10607241.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10607241/
PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
Thakore P, Yamasaki E, Ali S, Sanchez Solano A, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S. Proc Natl Acad Sci U S A. 2023 Aug 29;120(35):e2306479120. doi: 10.1073/pnas.2306479120. Epub 2023 Aug 22. PMID: 37607233; PMCID: PMC10467353.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10467353/
Thakore P, Yamasaki E, Ali S, Sanchez Solano A, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S. Proc Natl Acad Sci U S A. 2023 Aug 29;120(35):e2306479120. doi: 10.1073/pnas.2306479120. Epub 2023 Aug 22. PMID: 37607233; PMCID: PMC10467353.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10467353/
Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration.
Massoudi D, Gorman S, Kuo YM, Iwawaki T, Oakes SA, Papa FR, Gould DB. Invest Ophthalmol Vis Sci. 2023 Apr 3;64(4):30. doi: 10.1167/iovs.64.4.30. PMID: 37097227; PMCID: PMC10148664.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10148664/
Massoudi D, Gorman S, Kuo YM, Iwawaki T, Oakes SA, Papa FR, Gould DB. Invest Ophthalmol Vis Sci. 2023 Apr 3;64(4):30. doi: 10.1167/iovs.64.4.30. PMID: 37097227; PMCID: PMC10148664.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10148664/
Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome.
Yamasaki E, Ali S, Sanchez Solano A, Thakore P, Smith M, Wang X, Labelle-Dumais C, Gould DB, Earley S. Proc Natl Acad Sci U S A. 2023 Jan 31;120(5):e2217327120. doi: 10.1073/pnas.2217327120. Epub 2023 Jan 24. PMID: 36693102; PMCID: PMC9945977.
https://pmc.ncbi.nlm.nih.gov/articles/PMC9945977/
Yamasaki E, Ali S, Sanchez Solano A, Thakore P, Smith M, Wang X, Labelle-Dumais C, Gould DB, Earley S. Proc Natl Acad Sci U S A. 2023 Jan 31;120(5):e2217327120. doi: 10.1073/pnas.2217327120. Epub 2023 Jan 24. PMID: 36693102; PMCID: PMC9945977.
https://pmc.ncbi.nlm.nih.gov/articles/PMC9945977/
Elevated TGFβ Signaling Contributes to Cerebral Small Vessel Disease in Mouse Models of Gould Syndrome.
Branyan K, Labelle-Dumais C, Wang X, Hayashi G, Lee B, Peltz Z, Gorman S, Li BQ, Mao M, Gould DB. Matrix Biol. 2022 Nov 23:S0945-053X(22)00139-1.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10393528/
Branyan K, Labelle-Dumais C, Wang X, Hayashi G, Lee B, Peltz Z, Gorman S, Li BQ, Mao M, Gould DB. Matrix Biol. 2022 Nov 23:S0945-053X(22)00139-1.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10393528/
Lysyl hydroxylase 3 mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).
Ishikawa Y, Taga Y, Coste T, Tufa SF, Keene DR, Mizuno K, Tournier-Lasserve E, Gould DB. J Biol Chem. 2022 Nov 17:102713.
https://pmc.ncbi.nlm.nih.gov/articles/PMC9761383/
Ishikawa Y, Taga Y, Coste T, Tufa SF, Keene DR, Mizuno K, Tournier-Lasserve E, Gould DB. J Biol Chem. 2022 Nov 17:102713.
https://pmc.ncbi.nlm.nih.gov/articles/PMC9761383/
Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.
Mao M, Labelle-Dumais C, Tufa SF, Keene DR, Gould DB. Matrix Biol. 2022 Jun;110:151-173. doi: 10.1016/j.matbio.2022.05.001. Epub 2022 May 4.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10410753/
Mao M, Labelle-Dumais C, Tufa SF, Keene DR, Gould DB. Matrix Biol. 2022 Jun;110:151-173. doi: 10.1016/j.matbio.2022.05.001. Epub 2022 May 4.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10410753/
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Coste T, Vincent-Delorme C, Stichelbout M, Devisme L, Gelot A, Deryabin I, Pelluard F, Aloui C, Leutenegger AL, Jouannic JM, Héron D, Gould DB, Tournier-Lasserve E. Prenat Diagn. 2022 May;42(5):601-610.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10434296/
Coste T, Vincent-Delorme C, Stichelbout M, Devisme L, Gelot A, Deryabin I, Pelluard F, Aloui C, Leutenegger AL, Jouannic JM, Héron D, Gould DB, Tournier-Lasserve E. Prenat Diagn. 2022 May;42(5):601-610.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10434296/
Expanding the horizon of research into the pathogenesis of the white matter diseases: Proceedings of the 2021 Annual Workshop of the Albert Research Institute for White Matter and Cognition.
Whitehead SN, Bruno A, Burns JM, Carmichael ST, Csiszar A, Edwards JD, Elahi FM, Faraco G, Gould DB, Gustafson DR, Hachinski V, Rosenberg G, Sorond FA, Shih AY, Tse KH, Ungvari Z, Wilcock DM, Zuloaga KL, Barone FC. Geroscience. 2022 Feb;44(1):25-37.
https://pmc.ncbi.nlm.nih.gov/articles/PMC8488071/
Whitehead SN, Bruno A, Burns JM, Carmichael ST, Csiszar A, Edwards JD, Elahi FM, Faraco G, Gould DB, Gustafson DR, Hachinski V, Rosenberg G, Sorond FA, Shih AY, Tse KH, Ungvari Z, Wilcock DM, Zuloaga KL, Barone FC. Geroscience. 2022 Feb;44(1):25-37.
https://pmc.ncbi.nlm.nih.gov/articles/PMC8488071/
Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome.
Mao M, Popli T, Jeanne M, Hoff K, Sen S, Gould DB. Dis Model Mech. 2021 Apr 1;14(4):dmm048231
https://pmc.ncbi.nlm.nih.gov/articles/PMC8106953/
Mao M, Popli T, Jeanne M, Hoff K, Sen S, Gould DB. Dis Model Mech. 2021 Apr 1;14(4):dmm048231
https://pmc.ncbi.nlm.nih.gov/articles/PMC8106953/
Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
Ishikawa Y, Taga Y, Zientek K, Mizuno N, Salo AM, Semenova O, Tufa SF, Keene DR, Holden P, Mizuno K, Gould DB, Myllyharju J, Bächinger HP. J Biol Chem. 2021 Jan-Jun;296:100453.
https://pmc.ncbi.nlm.nih.gov/articles/PMC7988497/
Ishikawa Y, Taga Y, Zientek K, Mizuno N, Salo AM, Semenova O, Tufa SF, Keene DR, Holden P, Mizuno K, Gould DB, Myllyharju J, Bächinger HP. J Biol Chem. 2021 Jan-Jun;296:100453.
https://pmc.ncbi.nlm.nih.gov/articles/PMC7988497/
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
Ishikawa Y, Mizuno N, Holden P, Lim PJ, Gould DB, Rohrbach M, Giunta C, Bächinger HP. Sci Rep. 2020 Jan 16;10(1):497.
https://pmc.ncbi.nlm.nih.gov/articles/PMC6965642/
Ishikawa Y, Mizuno N, Holden P, Lim PJ, Gould DB, Rohrbach M, Giunta C, Bächinger HP. Sci Rep. 2020 Jan 16;10(1):497.
https://pmc.ncbi.nlm.nih.gov/articles/PMC6965642/
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Labelle-Dumais et al. Am J Hum Genet. 2019 May 2;104(5):847-860.
https://pmc.ncbi.nlm.nih.gov/articles/PMC6506795/
Labelle-Dumais et al. Am J Hum Genet. 2019 May 2;104(5):847-860.
https://pmc.ncbi.nlm.nih.gov/articles/PMC6506795/
Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice
Hayashi et al. Disease models & mechanisms. 2018; 11(7).
https://journals.biologists.com/dmm/article/11/7/dmm034157/53320/Use-of-sodium-4-phenylbutyrate-to-define
Hayashi et al. Disease models & mechanisms. 2018; 11(7).
https://journals.biologists.com/dmm/article/11/7/dmm034157/53320/Use-of-sodium-4-phenylbutyrate-to-define
Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma
Protas et al. Hum Mol Genet. 2017 Sep 15;26(18):3630-3638.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5886142/
Protas et al. Hum Mol Genet. 2017 Sep 15;26(18):3630-3638.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5886142/
Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract
Kuo et al. PLoS One. 2017 Aug;12(8):e0183438.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5565107/
Kuo et al. PLoS One. 2017 Aug;12(8):e0183438.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5565107/
Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.
Mao et al. Dis Model Mech. 2017 Apr 1;10(4):475-485.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5399567/
Mao et al. Dis Model Mech. 2017 Apr 1;10(4):475-485.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5399567/
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.
Jeanne et al. Matrix Biol. 2017 Jan;57-58:29-44.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5328961/
Jeanne et al. Matrix Biol. 2017 Jan;57-58:29-44.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5328961/
Small Blood Vessels: Big Health Problems?”: Scientific Recommendations of the National Institures of Health Workshop.
Bosetti et al. J Am Heart Assoc. 2016 Nov 4;5(11)
https://pmc.ncbi.nlm.nih.gov/articles/PMC5210346/
Bosetti et al. J Am Heart Assoc. 2016 Nov 4;5(11)
https://pmc.ncbi.nlm.nih.gov/articles/PMC5210346/
Type IV collagen drives alveolar-epithelial association and the morphogenetic movements of septation.
Loscertales et al. BMC Biol. 2016 Jul 13;14:59.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4942891/
Loscertales et al. BMC Biol. 2016 Jul 13;14:59.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4942891/
Col4a1 mutations cause progressive retinal neovascular defects and retinopathy
Alavi et al. Sci Rep. 2016 Jan 27;6:18602.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4728690/
Alavi et al. Sci Rep. 2016 Jan 27;6:18602.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4728690/
Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms
Mao et al. Curr Top Membr. 2015;76:61-116.Epub 2015 Oct 20.
https://www.sciencedirect.com/science/chapter/bookseries/pii/S1063582315000642?via%3Dihub
Mao et al. Curr Top Membr. 2015;76:61-116.Epub 2015 Oct 20.
https://www.sciencedirect.com/science/chapter/bookseries/pii/S1063582315000642?via%3Dihub
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.
Mao et al. Invest Ophthalmol Vis Sci. 2015 Oct;56(11).
https://pmc.ncbi.nlm.nih.gov/articles/PMC4627250/
Mao et al. Invest Ophthalmol Vis Sci. 2015 Oct;56(11).
https://pmc.ncbi.nlm.nih.gov/articles/PMC4627250/
In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter Mouse.
Alavi et al. Circulation. 2015;131:1555-1565.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4627472/
Alavi et al. Circulation. 2015;131:1555-1565.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4627472/
Molecular and Genetic Analyses of Collagen Type IVMutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention
Jeanne et al. Circulation. 2015;131:1555-1565.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4497509/
Jeanne et al. Circulation. 2015;131:1555-1565.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4497509/
Allosteric Inhibition of the IRE1a RNasePreserves Cell Viability and Function during Endoplasmic Reticulum Stress
Ghosh et al. Cell 158, 534–548, July 31, 2014
https://pmc.ncbi.nlm.nih.gov/articles/PMC4244221/
Ghosh et al. Cell 158, 534–548, July 31, 2014
https://pmc.ncbi.nlm.nih.gov/articles/PMC4244221/
Allelic heterogeneity contributes to variabilityin ocular dysgenesis, myopathy and brainmalformations caused by Col4a1 and Col4a2mutations
Kuo et al. Human Molecular Genetics, 2014, Vol. 23, No. 7
https://pmc.ncbi.nlm.nih.gov/articles/PMC3943517/
Kuo et al. Human Molecular Genetics, 2014, Vol. 23, No. 7
https://pmc.ncbi.nlm.nih.gov/articles/PMC3943517/
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets
Kuo et al. Human Molecular Genetics, 2012, Vol. 21, Review Issue 1
https://pmc.ncbi.nlm.nih.gov/articles/PMC3459649/
Kuo et al. Human Molecular Genetics, 2012, Vol. 21, Review Issue 1
https://pmc.ncbi.nlm.nih.gov/articles/PMC3459649/
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage
Weng et al. Ann Neurol. 2012 Apr; 71(4):470-7.
https://pmc.ncbi.nlm.nih.gov/articles/PMC3335762/
Weng et al. Ann Neurol. 2012 Apr; 71(4):470-7.
https://pmc.ncbi.nlm.nih.gov/articles/PMC3335762/
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke
Jeanne et al. Am J Hum Genet. 2012 Jan 13;90(1):91-101.
https://pmc.ncbi.nlm.nih.gov/articles/PMC3257894/
Jeanne et al. Am J Hum Genet. 2012 Jan 13;90(1):91-101.
https://pmc.ncbi.nlm.nih.gov/articles/PMC3257894/
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans
Labelle-Dumais et al. PLoS Genet. 2011 May;7(5):e1002062.
https://pmc.ncbi.nlm.nih.gov/articles/PMC3098190/
Labelle-Dumais et al. PLoS Genet. 2011 May;7(5):e1002062.
https://pmc.ncbi.nlm.nih.gov/articles/PMC3098190/
Developmental distribution of collagen IV isoforms and relevance to ocular diseases
Bai et al. Matrix Biol. 2009 May;28(4):194-201.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4749355/
Bai et al. Matrix Biol. 2009 May;28(4):194-201.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4749355/
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
Gould et al. Hum Mol Genet. 2007 Apr 1;16(7):798-807.
https://academic.oup.com/hmg/article/16/7/798/655096?login=true
Gould et al. Hum Mol Genet. 2007 Apr 1;16(7):798-807.
https://academic.oup.com/hmg/article/16/7/798/655096?login=true
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
Gould et al. N Engl J Med. 2006 Apr 6;354(14):1489-96.
https://www.nejm.org/doi/10.1056/NEJMoa053727?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200www.ncbi.nlm.nih.gov
Gould et al. N Engl J Med. 2006 Apr 6;354(14):1489-96.
https://www.nejm.org/doi/10.1056/NEJMoa053727?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200www.ncbi.nlm.nih.gov
Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly
Gould et al. Science. 2005 May 20;308(5725):1167-71.
https://www.science.org/doi/10.1126/science.1109418
Gould et al. Science. 2005 May 20;308(5725):1167-71.
https://www.science.org/doi/10.1126/science.1109418
2015
Labelle-Dumais, C., Mao, M., Schcuitema, V., Popli, T., Hoff, K., Jeanne, M., Sen, S., Gould, D.B.. Genetic Approaches and Pathogenic Mechanisms in a Mouse Model of Muscle–Eye–Brain Disease. MDA Scientific Conference, Washington, DC. 2015.
Labelle-Dumais, C., Mao, M., Schcuitema, V., Popli, T., Hoff, K., Jeanne, M., Sen, S., Gould, D.B.. Mechanistic Heterogeneity and Mechanism-Based Therapy for COL4A1 Mutations.
Gordon Research Conference: Collagen., New London, NH. 2015.
Mao, M., Jeanne, M., Popli, T., Hoff, K., Sen, S., Gould, D.B.. Identification of a genetic modifier underlying COL4A1-related anterior segment dysgenesis in mice. Association for Research in Vision and Ophthalmology annual meeting. Denver, CO (2015).
2014
Jeanne, M., Jorgensen J. and Gould D.B. Preventive and therapeutic approaches to reduce severity of hemorrhagic stroke caused by Col4a1 mutation.
Biennial Meeting of The American Society for Matrix Biology, Cleveland, OH. 2014.
Alavi, M.V. and Gould, D.B. Retinal vascular lesions associated with mutations in Col4a1. Poster, Annual meeting of the American Society for Human Genetics (ASHG).
Alavi, M.V. and Gould, D.B. Mutations in Col4a1 cause retinal vascular lesions. Presentation, Biennial Meeting of the International Society for Eye Research (ISER).
Alavi, M.V., Chiang, W.C., Kroeger, H., Yasumura, D., Matthes, M.T., LaVail, M.M., Gould, D.B., and Lin. J.H. Aging of the Retina Involves Elevated IRE1 Signaling and ER Stress Levels. Poster, XVIth International Symposium on Retinal Degeneration (RD2014).
Alavi, M.V., Chiang, W.C., Kroeger, H., Yasumura, D., Matthes, M.T., LaVail, M.M., Gould, D.B., and Lin, J.H. IRE1 Signaling and ER Stress Levels Increase With Age in Retina. Presentation, Annual meeting of the Association for Research in Vision and Ophthalmology (ARVO).
Mao, M. and Gould, D.B. Genetically dissecting the primary site of pathogenesis in COL4A1 mediated anterior segment dysgenesis. Poster presentation, International Society of Eye Research Meeting. San Francisco, CA. 2014.
Jeanne, M., Labelle-Dumais, C., Kuo, D., Mao, M., Jorgensen, J., Kauffman, B., and Gould, D.B. Mechanistic Heterogeneity in Multi-System Disorders Caused By COL4A1 and COL4A2 Mutations. Biennial Meeting of The American Society for Matrix Biology, Cleveland, OH. 2014.
2013
FASEB Science Research Conference, Saxtons River, VT.“Col4a1 and Col4a2 mutations cause cerebro-retinal angiopathy and genetically modifiable hemorrhagic stroke.”
Jeanne M., Jorgensen J. and Gould D.B.
Gordon Research Conference: Collagen. New London, NH. “Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy, and brain malformations caused by Col4a1 and Col4a2 mutations.” Kuo, D.S., Labelle-Dumais, C., Mao, M., Jeanne, M., Kauffman, W.B., Allen, J., Favor, J., and Gould, D.B.
Gordon Research Conference – Angiogenesis (Newport, RI) Poster “Col4a1 and Col4a2 mutations cause cerebro-retinal angiopathy and genetically modifiable hemorrhagic stroke” Jeanne M., Jorgensen J., Gould D.B.
Midwest Eye Research Symposium. Poster “Genetically dissecting the primary site(s) of pathogenesis in COL4A1 related ocular dysgenesis.” Mao M., Jeanne M., Gould D.B.
FASEB Science Research Conference – Matricellular Proteins in Development, Health, and Disease (Saxtons River,VT) Poster “Col4a1 and Col4a2 mutations cause cerebro-retinal angiopathy and genetically modifiable hemorrhagic stroke” Jeanne M., Jorgensen J., Gould D.B.
Collagen Gordon Research Conference (Colby Sawyer College) Poster “Allelic Heterogeneity Contributes to Variability in Ocular Dysgenesis, Myopathy, and Brain Malformations Caused by Col4a1 and Col4a2 Mutations” Kuo D.S., Labelle-Dumais C., Mao M., Jeanne M., Kauffman W.B., Allen J., Favor J., Gould D.B.
Muscular Dystrophy Association National Scientific Meeting (Washington DC) Poster “Allelic heterogeneity contributes to variable myopathy caused by mutations in type IV collagen” Labelle-Dumais C., Kuo D.S., Popli T., Kauffman W.B., Jeanne M., Mao M., Jorgensen J., Gould D.B.
The association for research in Vision and Ophthalmology (ARVO, Seattle, WA) annual meeting Poster “Genetically dissecting the primary site(s) of pathogenesis in COL4A1 related ocular dysgenesis.” Mao M., Jeanne M., Gould D.B.
The association for research in Vision and Ophthalmology (ARVO, Seattle, WA) annual meeting Poster “Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy, and cerebral cortical malformations caused by Col4a1 and Col4a2 mutations” Kuo D.S., Labelle-Dumais C., Mao M., Jeanne M., Kauffman W.B., Allen J., Favor J., Gould D.B.
Alberta Children’s Hospital Research Institute for Child and Maternal Health Annual Research Symposium (Calgary, AB, Canada) Invited speaker “Basement Membrane Collagens in Cerebral Angiogenesis and Stroke” Gould D.B.
2012
International Stroke Conference (New Orleans, LA) Invited Speaker “Mutations in Type IV Collagens Cause Familial and Sporadic Cerebrovascular Disease.” Gould D.B.
International Stroke Conference (New Orleans, LA) Poster “COL4A1 and COL4A2 mutations cause genetically modifiable cerebrovascular diseases.” Jeanne M., Weng Y.C., Labelle-Dumais C., Jorgensen J., de Leau M., Kauffman W.B., Greenberg S.M., Rosand J., Gould D.B.
Association for Research in Vision and Ophthalmology (Fort Lauderdale, FL) Invited Speaker “Using Genetic Approaches to Understand The Contribution of COL4A1 To Ocular Development and Disease.” Gould D.B.
Association for Research in Vision and Ophthalmology (Fort Lauderdale, FL) Poster “Allelic influence of Col4a1 and Col4a2 in anterior segment dysgenesis in mice.”
Mao M., Kuo D.S., Labelle-Dumais C., Jeanne M., Favor J., Gould D.B.
XX Biennial Meeting of the International Society for Eye Research (Berlin, Germany) Poster “Allelic heterogeneity contributes to ocular dysgenesis variability associated with Col4a1 and Col4a2 mutations.” Labelle–Dumais, C., Kuo D.S., Mao M., Jeanne M., Favor J., Gould D.B.
International Society for Matrix Biology (Katowice, Poland) Selected speaker and ISMB award winner “COL4A1 and COL4A2 mutations cause abnormal angiogenesis and genetically modifiable Cerebrovascular Diseases.” Jeanne M., Jorgensen J., Labelle-Dumais C., Weng Y.C., Kauffman W.B., de Leau M., Greenberg S.M., Rosand J., Favor J., Gould D.B.
American Society for Human Genetics (San Francisco, CA) Poster “Allelic heterogeneity contributes to variable ocular dysgenesis caused by Col4a1 and Col4a2 mutations in mice.” Mao M., Kuo D.S., Labelle-Dumais C., Jeanne M., Favor J., Gould D.B.
American Society for Human Genetics (San Francisco, CA) Poster “COL4A1 and COL4A2 mutations cause genetically modifiable hemorrhagic stroke.” Jeanne M., Jorgensen J., Labelle-Dumais C., Weng Y.C., Kauffman W.B., de Leau M., Greenberg S.M., Rosand J., Favor J., Gould D.B.
Biennial Meeting of the American Society for Matrix Biology (San Diego, CA) Selected speaker and ASMB award winner “COL4A1 and COL4A2 mutations cause abnormal angiogenesis and genetically modifiable cerebrovascular diseases.” Jeanne M., Jorgensen J., Labelle-Dumais C., Weng Y.C., Kauffman W.B., de Leau M., Greenberg S.M., Rosand J., Favor J., Gould D.B.
Biennial Meeting of the American Society for Matrix Biology (San Diego, CA) Poster “Allelic Differences Contribute to Variation in Ocular Dysgenesis, Myopathy and Neuronal Lamination Defects Caused by Col4a1 and Col4a2 Mutations.” Kuo D.S., Labelle-Dumais C., Mao M., Jeanne M., Kauffman W.B., Allen J., Favor J., Gould D.B.
CardioVascular Research Institute – UCSF retreat (Santa Cruz, CA) Poster “Genetic context influences the severity of vascular disease caused by Col4a1 mutations.” Jorgensen J., Jeanne M., Gould D.B.
CardioVascular Research Institute – UCSF retreat (Santa Cruz, CA) Poster “Defining the spatial and temporal boundaries of COL4A1 pathogenesis: implications for therapy.” Jeanne M., Jorgensen J., Labelle-Dumais C., Kauffman W.B., Favor J., Gould D.B.
2011
International Society for Ocular Cell Biology (Vancouver, BC.) Invited Speaker “Cellular Consequences and Ocular Pathology in Col4a1 Mutations.” Gould D.B.
CardioVascular Research Institute – UCSF retreat (Santa Cruz, CA) Selected speaker “COL4A1 and COL4A2 mutations cause genetically modifiable Cerebrovascular Diseases.” Jeanne M., Weng Y.C., de Leau M., Labelle–Dumais C., Jorgensen J., Kauffman W.B., Greenberg S.M., Rosand J. and Gould D.B.
2010
XIV International Symposium on Retinal Degeneration (Mont Tremblant, QC, Canada) Poster “Using An Allelic Series to Understand the Cellular Mechanisms of Retinal Degeneration in Col4a1 Mutant Mice.” Kuo D., Weng Y.C., and Gould D.B.
XIX Biennial Meeting of the International Society for Eye Research (Montreal, QC, Canada) Poster “Determination of the Pathogenic Mechanism(s) Underlying Ocular Dysgenesis Associated with COL4A1 Mutations.” Labelle–Dumais C., Dilworth D. J., Harrington E., de Leau M., Lyons E., Michele D.E. and Gould D.B.
Symposium on Basement Membranes in Tissue Development and Regeneration (Nashville, TN) Oral Presentation “Col4a1 causes ocular dysgenesis, cerebral cortical lamination defects and myopathy in mice and Walker–Warburg Syndrome in humans.” Gould D.B.
CardioVascular Research Institute – UCSF retreat (Tomales Bay, CA) Poster “Determination of the pathogenic mechanisms underlying cerebrovascular diseases associated with COL4A1 mutations” Jeanne M., Weng Y.C., de Leau M., Labelle–Dumais C., and Gould D.B.











































