Douglas Gould, PhD
Professor
Ophthalmology
School of Medicine

During his PhD, Dr. Gould studied the genetics of ocular anterior segment dysgenesis including the mapping and mutation screening of FOXC1 in patients with ocular dysgenesis.

Dr. Gould did his postdoctoral work wit Dr. Simon John at The Jackson Laboratory in Bar Harbor. While still pursuing study of the genetics on ocular dysgenesis and glaucoma, Dr. Gould identified the first mammalian mutations in type IV collagen alpha 1 (COL4A1). In 2006 he joined the UCSF faculty where his lab studies the cellular mechanisms by which extracellular matrix components contribute to development and disease.

• Tracking the role of Aire in immune tolerance to the eye with a TCR transgenic mouse model.
  Proceedings of the National Academy of Sciences of the United States of America 2024 Yin M, Smith JA, Chou M, Chan J, Jittayasothorn Y, Gould DB, Caspi RR, Anderson MS, DeFranco AL
• Impaired intracellular Ca2+ signaling contributes to age-related cerebral small vessel disease in Col4a1 mutant mice.
  Science signaling 2023 Yamasaki E, Thakore P, Ali S, Sanchez Solano A, Wang X, Gao X, Labelle-Dumais C, Chaumeil MM, Gould DB, Earley S
• Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.
  International journal of molecular sciences 2023 Ishikawa Y, Bonna A, Gould DB, Farndale RW
• PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
  Proceedings of the National Academy of Sciences of the United States of America 2023 Thakore P, Yamasaki E, Ali S, Sanchez Solano A, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S
• Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration.
  Investigative ophthalmology & visual science 2023 Massoudi D, Gorman S, Kuo YM, Iwawaki T, Oakes SA, Papa FR, Gould DB
• PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.
  bioRxiv : the preprint server for biology 2023 Thakore P, Yamasaki E, Ali S, Solano AS, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S
• Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome.
  Proceedings of the National Academy of Sciences of the United States of America 2023 Yamasaki E, Ali S, Sanchez Solano A, Thakore P, Smith M, Wang X, Labelle-Dumais C, Gould DB, Earley S
• Elevated TGFβ signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome.
  Matrix biology : journal of the International Society for Matrix Biology 2022 Branyan K, Labelle-Dumais C, Wang X, Hayashi G, Lee B, Peltz Z, Gorman S, Li BQ, Mao M, Gould DB
• Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).
  The Journal of biological chemistry 2022 Ishikawa Y, Taga Y, Coste T, Tufa SF, Keene DR, Mizuno K, Tournier-Lasserve E, Gould DB
• Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.
  Matrix biology : journal of the International Society for Matrix Biology 2022 Mao M, Labelle-Dumais C, Tufa SF, Keene DR, Gould DB
• Autoantigen specific T-cell receptor induces organ-specific autoimmunity by escaping T cell negative selection.
  The Journal of Immunology 2022 Mianmian Yin, Jennifer A Smith, Marissa Chou, Jackie Chan, Yongmei Hu, Clifford A Lowell, Douglas B Gould, Mark S Anderson, Anthony L DeFranco
• Development of uveitis in a mouse model of spontaneous autoimmunity correlates with frequency of autoantigen-specific regulatory T cells.
  The Journal of Immunology 2022 Mianmian Yin, Kamir J Hiam, Irina Proekt, Jackie Chan, Yongmei Hu, Clifford A Lowell, Douglas B Gould, Matthew Spitzer, Mark S Anderson, Anthony L DeFranco
• COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
  Prenatal diagnosis 2022 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
• Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.
  Epilepsy & behavior : E&B 2021 Boyce D, McGee S, Shank L, Pathak S, Gould D
• 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.
  GeroScience 2021 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 …
• Correlation of autoantigen-specific Treg frequency with development of spontaneous organ-specific autoimmunity in a mouse model of uveitis.
  The Journal of Immunology 2021 Mianmian Yin, Kamir Hiam, Irina Proekt, Jackie Chan, Yongmei Hu, Clifford A Lowell, Douglas B Gould, Mark S Anderson, Anthony L DeFranco
• T-cell receptor repertoire of mice with organ-specific autoimmunity resulting from a partial defect in T cell negative selection and dendritic cell enhancement.
  The Journal of Immunology 2021 Mianmian Yin, Jennifer A Smith, Marissa Chou, Jackie Chan, Yongmei Hu, Clifford A Lowell, Douglas B Gould, Mark S Anderson, Anthony L DeFranco
• Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome.
  Disease models & mechanisms 2021 Mao M, Popli T, Jeanne M, Hoff K, Sen S, Gould DB
• Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
  The Journal of biological chemistry 2021 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
• Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
  PLoS genetics 2021 Syx D, Ishikawa Y, Gebauer J, Boudko SP, Guillemyn B, Van Damme T, D'hondt S, Symoens S, Nampoothiri S, Gould DB, Baumann U, Bächinger HP, Malfait F
• The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
  Scientific reports 2020 Ishikawa Y, Mizuno N, Holden P, Lim PJ, Gould DB, Rohrbach M, Giunta C, Bächinger HP
• COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
  American journal of human genetics 2019 Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB
• Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice.
  Disease models & mechanisms 2018 Hayashi G, Labelle-Dumais C, Gould DB
• Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.
  Human molecular genetics 2017 Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB
• Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.
  PloS one 2017 Kuo DS, Sokol JT, Minogue PJ, Berthoud VM, Slavotinek AM, Beyer EC, Gould DB
• Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.
  Disease models & mechanisms 2017 Mao M, Kiss M, Ou Y, Gould DB
• Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.
  Matrix biology : journal of the International Society for Matrix Biology 2016 Jeanne M, Gould DB
• Erratum to: Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.
  BMC biology 2016 Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK
• LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity.
  The Journal of clinical investigation 2016 Proekt I, Miller CN, Jeanne M, Fasano KJ, Moon JJ, Lowell CA, Gould DB, Anderson MS, DeFranco AL
• Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.
  BMC biology 2016 Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK
• Triggering of organ-specific autoimmunity through synergy of defects in key tolerance checkpoints.
  The Journal of Immunology 2016 Irina Proekt, Corey Miller, Marion Jeanne, Kayla Fasano, Clifford A Lowell, Douglas Gould, Mark S Anderson, Anthony L DeFranco
• Col4a1 mutations cause progressive retinal neovascular defects and retinopathy.
  Scientific reports 2016 Alavi MV, Mao M, Pawlikowski BT, Kvezereli M, Duncan JL, Libby RT, John SW, Gould DB
• A Transcriptomic Analysis of Cave, Surface, and Hybrid Isopod Crustaceans of the Species Asellus aquaticus.
  PloS one 2015 Stahl BA, Gross JB, Speiser DI, Oakley TH, Patel NH, Gould DB, Protas ME
• In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter Mouse.
  Investigative ophthalmology & visual science 2015 Alavi MV, Chiang WC, Kroeger H, Yasumura D, Matthes MT, Iwawaki T, LaVail MM, Gould DB, Lin JH
• In vivo longitudinal assessment of cellular processes using fluorescence reporters.
  Mitochondrion 2015 Marcel V. Alavi, Douglas B. Gould
• Allosteric inhibition of the IRE1α RNase preserves cell viability and function during endoplasmic reticulum stress.
  Cell 2014 Ghosh R, Wang L, Wang ES, Perera BG, Igbaria A, Morita S, Prado K, Thamsen M, Caswell D, Macias H, Weiberth KF, Gliedt MJ, Alavi MV, Hari SB, Mitra AK, Bhhatarai B, Schürer SC, Snapp EL, Gould DB, …
• Spontaneous development of autoimmune uveitis Is CCR2 dependent.
  The American journal of pathology 2014 Chen YF, Zhou D, Metzger T, Gallup M, Jeanne M, Gould DB, Anderson MS, McNamara NA
• Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation.
  Investigative ophthalmology & visual science 2013 Aikio M, Hurskainen M, Brideau G, Hägg P, Sormunen R, Heljasvaara R, Gould DB, Pihlajaniemi T
• COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
  Annals of neurology 2012 Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB
• COL4A2 mutation associated with familial porencephaly and small-vessel disease.
  European journal of human genetics : EJHG 2012 Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM
• Abstract 3665: COL4A1 and COL4A2 Mutations cause Genetically Modifiable Cerebrovascular Diseases.
  Stroke 2012 Marion Jeanne, Yi-Chinn Weng, Michelle de Leau, Cassandre Labelle-Dumais, Berkeley W Kauffman, Steven M Greenberg, Jonathan Rosand, Douglas B Gould
• COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
  American journal of human genetics 2011 Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
  Journal of medical genetics 2011 Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, …
• A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
  PloS one 2010 Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki J…
• Endoplasmic reticulum stress as a primary pathogenic mechanism leading to age-related macular degeneration.
  Advances in experimental medicine and biology 2010 Libby RT, Gould DB
• Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.
  The Journal of biological chemistry 2009 Firtina Z, Danysh BP, Bai X, Gould DB, Kobayashi T, Duncan MK
• Developmental distribution of collagen IV isoforms and relevance to ocular diseases.
  Matrix biology : journal of the International Society for Matrix Biology 2009 Bai X, Dilworth DJ, Weng YC, Gould DB
• Mutant COL4A1 triggers oxidative stress in a genetic model of AMD.
  Matrix Biology 2008 Yi-Chinn Weng, David J. Dilworth, Richard T. Libby, Simon W.M. John, Douglas B. Gould
• Clinical and brain MRI follow-up study of a family with COL4A1 mutation.
  Neurology 2007 Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG
• Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up.
  American journal of medical genetics. Part A 2007 Lowry RB, Gould DB, Walter MA, Savage PR
• Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.
  Human molecular genetics 2007 Gould DB, Marchant JK, Savinova OV, Smith RS, John SW
• Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma.
  Molecular and cellular biology 2006 Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL, John SW
• Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
  The New England journal of medicine 2006 Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW
• Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
  Journal of medical genetics 2005 Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM
• Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
  Science (New York, N.Y.) 2005 Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW
• High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma.
  Proceedings of the National Academy of Sciences of the United States of America 2005 Anderson MG, Libby RT, Gould DB, Smith RS, John SW
• Complex genetics of glaucoma susceptibility.
  Annual review of genomics and human genetics 2005 Libby RT, Gould DB, Anderson MG, John SW
• Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.
  American journal of medical genetics. Part A 2004 Gould DB, Walter MA
• Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma.
  Molecular and cellular biology 2004 Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SW
• Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
  BMC medical genetics 2004 Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA
• Anterior segment development relevant to glaucoma.
  The International journal of developmental biology 2004 Gould DB, Smith RS, John SW
• Anterior segment dysgenesis and the developmental glaucomas are complex traits.
  Human molecular genetics 2002 Gould DB, John SW
• Cloning, characterization, localization, and mutational screening of the human BARX1 gene.
  Genomics 2000 Gould DB, Walter MA
• Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
  European journal of human genetics : EJHG 2000 Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA
• Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
  American journal of human genetics 1998 Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo WL, Collins C, Marshall J, Gould DB, Pearce W, Carlsson P, Enerbäck S, Morissette J, Bhattacharya S, Hogan B, Raymond …
• The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.
  Cell 1998 Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL
• Autosomal Dominant Axenfeld-Rieger Anomaly Maps to 6p25.
  The American Journal of Human Genetics 1997 DOUGLAS B. GOULD, WILLIAM G. PEARCE, MICHAEL A. WALTER
• Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.
  American journal of human genetics 1997 Gould DB, Mears AJ, Pearce WG, Walter MA
• Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.
  American journal of human genetics 1996 Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA