MU College of Medicine - Neurodegenerative Diseases Research Laboratory

Publications

  1. Farias FHG, Mhlanga-Mutangadura T, Guo J, Hansen L, Johnson GS, Katz ML. FAN1 Deletion Variant in Basenji Dogs with Fanconi Syndrome. Genes 15:1469, 2024.
  2. Zeng R, Guo J, Bullock G, Johnson GS, Katz ML. Canine Multiple System Degeneration Associated with Sequence Variants in SERAC1. Genes 15:1378, 2024.
  3. Bullock G, Jaffey JA, Cohn LA, Sox E, Hostnik ET, Hutcheson KD, Matero E, Hoffman KS, Johnson GS, Katz ML. Novel COL5A1 Variants and Associated Disease Phenotypes in Dogs with Classical Ehlers-Danlos Syndrome. J. Veterinary Internal Medicine, 2024.
  4. Mhlanga-Mutangadura T, Bullock G, Cerda-Gonzalez S, Katz ML. Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6. Genes 15:661, 2024.
  5. Keller SH, Johnson GS, Bullock G, Mhlanga-Mutangadura T, Schwartz M, Pattridge SG, Guo J, Kortz GD, Katz ML.  Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.  Genes 15:246, 2024.
  6. Katz ML, Cook J, Vite CH, Campbell RS, Coghill LM, Lyons, LA. Beta-Mannosidosis in a Domestic Cat Associated with a Missense Variant in MANBA. Gene 893:147941, 2024.
  7. Bullock G, Johnson GS, Pattridge SG, Mhlanga-Mutangadura T, Guo J, Cook J, Campbell RS, Vite CH, Katz ML.  A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency.  Genes 14:1746, 2023.
  8. Kick GR, Whiting REH, Ota-Kuroki J, Castaner LJ, Morgan-Jack B, Sabol JC, Meiman EJ, Ortiz F, Katz ML. Intravitreal gene therapy preserves retinal function in a canine model of CLN2 neuronal ceroid lipofuscinosis.  Experimental Eye Research 226:1093444, 2023.
  9. Jaffey, J.A.; Bullock, G.; Guo, J.; Mhlanga-Mutangadura, T.; O’Brien, D.P.; Coates, J.R.; Morrissey, R.; Hutchison, R.; Donnelly, K.S.; Cohn, L.A. Katz, M.L.; Johnson, G.S.  Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome. Genes 13:2158, 2022.
  10. Meiman EJ, Kick GR, Jensen CA, Coates JR, Katz ML.  Characterization of Neurological Disease Progression in a Canine Model of CLN5 Neuronal Ceroid Lipofuscinosis.  Developmental Neurobiology 82:326-344, 2022.
  11. Bullock G, Johnson, GS, Mhlanga-Mutangadura T, Petesch SC, Thompson S, Goebbels S, Katz ML.  Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs. Gene 830:146513, 2022.
  12. Kick GR, Meiman EJ, Sabol JC, Whiting REH, Ota-Kuroki J, Castaner LJ, Jensen CA, Katz ML. Visual System Pathology in a Canine Model of CLN5 Neuronal Ceroid Lipofuscinosis. Experimental Eye Research 210:108686, 2021.
  13. Hammon K, de Hart G, Vuillemenot B, Kennedy D, Musson D, O’Neill C, Katz ML, Henshaw J. Dose selection for intracerebroventricular cerliponase alfa in children with CLN2 disease, translation from animal to human in a rare genetic disease. Clinical and Translational Science. 14:1810–1821, 2021.
  14. Whiting, REH, Robinson Kick, G, Ota-Kuroki, J, Kim, S, Castaner, LJ, Jensen, CA, Kowal, J, Nguyen, A, Corado, C, O’Neill, CA, Katz, ML. Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. Experimental Eye Research 198: 108135, 2020.
  15. Whiting, REH, Pearce, JW, Vansteenkiste, DP, Bibi, K, Lim, S, Robinson Kick, G, Castaner, LJ, Sinclair, J, Chandra, S, Nguyen, A, O’Neill, CA, Katz, ML. Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis. Experimental Eye Research 198: 108130, 2020.
  16. Katz ML, Buckley RM, Biegen V, O’Brien DP, Johnson GC, Warren WC and Lyons LA. Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6. G3: Genes, Genomes, Genetics ­­­­­­­10:2741-2751, 2020.
  17. Ru Y, Corado C, Soon RK, Melton AC, Harris A, Yu GK, Pryer N, Sinclair JR, Katz ML, Ajayi T, Jacoby D, Russell CB, Chandriani S.  Neurofilament light is a treatment-responsive biomarker in CLN2 disease.  Annals of Clinical and Translational Neurology 6:2437-2447, 2019.
  18. Guo J, Johnson GS, Cook J, Harris OK, Mhlanga-Mutangadura T, Schnabel RD, Jensen CA, Katz ML.  Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant.  Molec Genet Metabol Reports 21:100521, 2019.
  19. Villani NA, Bullock G, Michaels JR, Yamato O, O’Brien DP, Mhlanga-Mutangadura T, Johnson GS, Katz ML.  A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for aCLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.  Molec Genet Metabol  127:107-115, 2019.
  20. Schmutz I, Jagannathana V, Bartenschlager F, Stein VM, Gruber AD, Leeb T, Katz ML.  ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Molec Genet Metabol, 127:95-106, 2019.
  21. Murgiano L, Becker D, Torjman D, Niggel JK, Milano A, Cullen C, Feng R, Wang F, Jagannathan V, Pearce-Kelling S, Katz ML, Leeb T, Aguirre GD.  Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration.  G3: Genes, Genomes, Genetics 9: 425-437, 2019.
  22. Katz ML, Rustad E, Robinson GO, Whiting REH, Student JT, Coates JR, Narfstrom K. Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Disease 108:277-287, 2017.
  23. Kolicheski, A, Johnson GS, Villani NA, O’Brien DP, Mhlanga-Mutangadura T, Wenger DA, Mikoloski K, Eagleson JS, Taylor JF, Schnabel RD, Katz ML. GM2 gangliosidosis in Shiba Inu dogs with an inframe deletion in HEXB. J Vet Internal Med 31:1520-1526, 2017.
  24. Grobman M, Boothe DM, Rindt H, Williamson BG, Katz ML, Coates JR, Reinero CR. Pharmacokinetics and dynamics of mycophenolate mofetil after single-dose oral administration in juvenile Dachshunds. J Vet Pharmcol Therapeutics 40:e1-e10, 2017.
  25. Katz ML, Jensen CA, Student JT, Johnson GC, Coates JR. Cervical spinal cord and motor unit pathology in a canine model of SOD1-associated amyotrophic lateral sclerosis. J Neurol Sci 378:193-203, 2017.
  26. Kolicheski A, Barnes Heller HL, Arnold S, Schnabel RD, Taylor JF, Knox CA, Mhlanga-Mutangadura T, O’Brien DP, Johnson GS, Dreyfus J, Katz ML. Homozygous PPT1 splice donor mutation in a Cane Corso Dog with neuronal ceroid lipofuscinosis. J Vet Internal Med 31:149-157, 2017.
  27. Katz ML, Johnson GC, Leach SB, Williamson BG, Coates JR, Whiting REH, Vansteenkiste DP, Whitney MS. Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. Gene Ther 24: 215-223, 2017.
  28. Toedebusch CM, Bachrach MD, Garcia VB, Johnson GC, Katz ML, Shaw G, Coates JR, Garcia ML. Cerebrospinal Fluid Levels of Phosphorylated Neurofilament Heavy as a Diagnostic Marker of Canine Degenerative Myelopathy. J Vet Internal Med Med 31:513-520, 2017.
  29. Stroud C, Kashentseva E, Bryan JN, Curiel DT, Rindt H, Reinero C, Henry CJ, Bergman PJ, Mason NJ, Gnanandarajah JS, Engiles JB, Gray F, Laughlin D, Gaurnier-Hausser A, Wallecha A, Huebner M, Paterson Y, O’Connor D, Treml LS, Stannard JP, Cook JL, Jacobs M, Wyckoff GJ, Likins L, Sabbagh U, Skaff A, Guloy AS, Hays HD, LeBlanc AK, Coates JR, Katz ML, Lyons LA, Johnson GC, Johnson GS, O’Brien DP, Duan D, Calvet JP, Gandolfi B, Baron DA, Weiss ML, Webster DA, Karanu FN, Robb EJ, Harman RJ. A One Health overview, facilitating advances in comparative medicine and translational research. Clinical and Translational Medicine 5(Suppl 1):26, 2016.
  30. Tracy CJ, Whiting REH, Pearce JW, Williamson BG, Daniella P. Vansteenkiste DP, Gillespie LE, Castaner LJ, Bryan JN, Coates JR, Jensen CA, Katz ML. Intravitreal Implantation of TPP1-Transduced Stem Cells Delays Retinal Degeneration in Canine CLN2 Neuronal Ceroid Lipofuscinosis. Exp Eye Res 152:77-87, 2016.
  31. Ashwini A, D’Angelo A, Yamato O, Giordano C, Cagnotti G, Harcourt-Brown T, Mhlanga-Mutangadura T, Guo J, Johnson GS, Katz ML. Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. Molec Genet Metabol 118:326-332, 2016.
  32. Kolicheski A, Johnson GS, O’Brien DP, Mhlanga-Mutangadura T, Gilliam D, Guo J, Anderson-Sieg TD, Schnabel RD, Taylor JF, Lebowitz A, Swanson B, Hicks D, Niman ZE, Winninger FA, Carpentier MC, Katz ML. Australian Cattle Dogs with neuronal ceroid lipofuscinosis are homozygous for a CLN5 nonsense mutation previously identified in Border Collies. J Vet Internal Med 30:1149-1158, 2016.
  33. Ivansson EL, Megquier K, Kozyreva SV, Izabella EM, Körbergc B, Swofford R, Koltookian M, Tonomura N, Zeng R, Kolicheskie AL, Hansen L, Katz ML, Johnson GC, Johnson GS, Coates JR, Lindblad-Toh K. Variants within SP110 modify risk of canine degenerative myelopathy: a model for amyotrophic lateral sclerosis. Proc Nat Acad Sci (USA), PNAS, E3091-E3100, 2016.
  34. Whiting REH, Jensen CA, Pearce JW, Castaner LJ, Gillespie LE, Bristow DE, Katz ML. Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease. Exp Eye Res 146:276-282, 2016.
  35. Mhlanga-Mutangadura T, Johnson GS, Schnabel RD, Taylor JF, Johnson GC, Katz ML, Shelton GD, Lever TE, Giuliano E, Granger N, Shomper J, O’Brien DP. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiology of Disease 86:75-85, 2016.
  36. Katz ML, Tecedor L, Chen Y, Williamson BG, Lysenko E, Wininger FA, Young WM, Johnson GC, Whiting REH, Coates JR, Davidson BL. AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease. Science Translational Medicine 11 Nov 2015: Vol. 7, Issue 313, pp. 313ra180.
  37. Tracy CJ, Sanders DN, Bryan JN, Jensen CA, Castaner LJ, Kirk MD, Katz ML. Intravitreal Implantation of Genetically Modified Autologous Bone Marrow-Derived Stem Cells for Treating Retinal Disorders. Adv Exp Med Biol 854:571-577, 2015.
  38. Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Katz ML. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Molec Genet Metabol 115: 101–109, 2015.
  39. Whiting REH, Pearce JW, Castaner LJ, Jensen CA, Katz RJ, Gilliam DH, Katz ML. Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res 134: 123–132, 2015.
  40. Guo J, O’Brien DP, Mhlanga-Mutangadura T, Olby NJ, Taylor JF, Schnabel RD, Katz ML, Johnson GS. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. BMC Veterinary Research 2015, 10:960 (3 January 2015).
  41. Vuillemenot BR, Kennedy D, Cooper JD, Wong AMS, Sri S, Doeleman T, Katz ML, Coates JR , Johnson GC, Reed RP, Adams EL, Butt MT, Musson DG, Henshaw J, Keve S, Cahayag R, Tsuruda LS, O’Neill CA. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 1 neuronal ceroid lipofuscinosis. Molec Genet Metabol 114: 281-293, 2015.
  42. Whiting REH, Narfström K, Yao G, Pearce JW, Coates JR, Castaner LJ, Jensen CA, Dougherty BN, Vuillemenot BR, Kennedy D, O’Neill CA, Katz ML. Enzyme Replacement Therapy Delays Pupillary Light Reflex Deficits in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis. Exp Eye Res 125:164–172, 2014.
  43. Katz ML, Coates JR, Sibigtroth CM, Taylor JD, Carpentier M, Young WM, Wininger FA, Kennedy D, Vuillemenot BR, O’Neill CA. Enzyme Replacement Therapy Attenuates Disease Progression in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease). J Neurosci Res 92:1591–1598, 2014.
  44. Guo J, Johnson GS, Brown HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, O’Brien DP, Katz ML. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. Molec Genet Metabol 112:320-309, 2014.
  45. Zeng R, Coates JR, Johnson GC, Hansen L, Awano T, Kolichesk A, Ivansson E, Perloski M, Lindblad-Toh K, O’Brien DP, Guo J, Katz ML, Johnson GS. Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy. J Vet Intern Med 28:515-521, 2014.
  46. Morgan BR, Coates JR, Johnson GC, Shelton GD and Katz ML. Characterization of thoracic motor and sensory neurons and spinal nerve roots in canine degenerative myelopathy, a potential disease model of amyotrophic lateral sclerosis. J Neurosci Res 92:531–541, 2014.
  47. Chalkley MD, Armien AG, Gilliam DH, Johnson GS, Zeng R, Wünschmann A, Kovi RC and Katz ML. Characterization of Neuronal Ceroid-Lipofuscinosis in Three Cats. Vet Pathol 51:796-804, 2014.
  48. Whiting REH, Narfström K, Yao G, Pearce JW, Coates JR, Castaner LJ, and Katz ML. Pupillary Light Reflex Deficits in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis. Exp Eye Res 116:402–410, 2013.
  49. Morgan BR, Coates JR, Johnson GC, Bujnak AC and Katz ML. Characterization of Intercostal Muscle Pathology in Canine Degenerative Myelopathy: A Disease Model for Amyotrophic Lateral Sclerosis. J Neurosci Res 91:1639–1650, 2013.
  50. Whiting, REH, Yao G, Narfström K, Pearce JW, Coates JR , Dodam JR, Castaner LJ and Katz ML. Quantitative Assessment of the Canine Pupillary Light Reflex. Invest Ophthalmol Vis Sci 54:5432-5440, 2013.
  51. Sanders DN, Zeng R, Wenger DA, Johnson GS, Johnson GC, Decker JE, Katz ML and O’Brien DP. GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay- Sachs disease. Molec Genet Metab 108:70–75, 2013.
  52. Shelton GD, Johnson GC, O’Brien DP, Katz ML, Pasayco JP, Chang .BJ, Mizisin AP and Coates JR. Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers. J Neurol Sci 318:55-64, 2012.
  53. Sanders DN, Kanazono S, Whiting RH, Flournoy CA, Wininger FA, Coates JR and Katz ML: A reversal learning task detects early cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis. Genes, Brain and Behavior, 10: 798-804, 2011.
  54. Wininger FA, Zeng R, Johnson GS, Katz ML, Johnson GC, Bush WW, Jarboe JM and Coates, JR: Degenerative Myelopathy in a Bernese Mountain Dog with a Novel SOD1 Missense Mutation. J Vet Internal Med 25:1166-1170, 2011.
  55. Vuillemenot B, Katz ML, Coates JR, Lobel P, Tiger P, Bunting S, Kanazono S, Kennedy D, Tsuruda L and O’Neill C: Intrathecal Tripeptidyl Peptidase-1 Reduces Lysosomal Storage in a Canine Model of LINCL. Molec Genet Metab 104:325-337 , 2011.
  56. Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, and O’Brien DP: A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis. J Biomed Biotech, Article ID 198042, 6 pages, DOI:10.1155/2011/198042, 2011.
  57. Farias FH, Zeng R Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Lohi H, Lindblad-Toh K, Wade CM, O’Brien DP, Katz ML. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan Terriers Neurobiol Dis 42:468-474, 2011.
  58. Zeng R, Farias FHG, Johnson GS, McKay SD, Schnabel RD, Decker JE, Taylor JF, Mann CS, Katz ML, Johnson GC, Coates JR, and O’Brien DP. A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera’s neonatal ataxia. J Vet Internal Med 25:267-272, 2011.
  59. Palmer DN, Tammen I, Drogemuller C, Johnson GS, Katz ML, and Lingaas F: Large animal models of neuronal ceroid lipofuscinoses. In: Mole SE, Williams RE, and Goebel HH (eds.) The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd Ed. Oxford University Press, London, pp 284-320, 2011.
  60. Thompson S, Whiting REH, Kardon RH, Stone EM, Narfstrom K.  Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex.  Vet. Ophthalmology.  2010; 13: 151-157.
  61. Sanders DN, Kanazono S, Coates JR, Johnson GS, Johnson GC, Narfstrom K, O’Brien DP, Katz ML: Cognitive decline in a dog model for an inherited neurodegenerative disease using t-maze performance. J Vet Behavior: Clin Appl and Res 5: 154, 2010.
  62. Farias FHG, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharakhani P, O’Leary CA, Pettitt L, Forman OP, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan DR, and Mellersh C: An ADAMTS17 spice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci 51: 4716-4721, 2010.
  63. Sanders DN, Farias FH, Johnson GS, Chiang V, Cook JR, O’Brien DP, Hofmann SL, Lu J, and Katz ML: A mutation in canine palmitoyl protein thiesterase 1 (PPT1) causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Molec Genet Metab 100:349-356, 2010.
  64. Hainsworth DP, Liu G, Hamm CW, and Katz ML. Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses, Retina 29: 657-668, 2009.
  65. Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, Taylor JF, Perloski M, Biagi T, Long S, March PA, Olby NJ, Khan S, O’Brien DP, Lindblad-Toh K and Coates JR. Genome-wide association analysis reveals a SOD1 mutation in Canine Degenerative Myelopathy: That Resembles Amyotrophic Lateral Sclerosis. Proc Nat Acad Sci USA PNAS 106 (8) 2473-2474. 2009.
  66. Katz ML, Coates JR, Cooper JJ, O’Brien DP, Jeong M, and Narfström K: Retinal Pathology in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis. Invest Ophthalmol Vis Sci 49:2686-2695, 2008.
  67. O’Brien DP and Katz ML: Neuronal ceroid lipofuscinosis in three Australian shepherd littermates. J Vet Internal Med 22:472-475, 2008.
  68. Narfström K, Seeliger M, Lai CM, Vaegan, Katz ML, Rakoczy EP, Remé C. Morphological aspects related to long-term functional improvement of the retina in 4 years following rAAV-mediated gene transfer in the RPE65 null mutation dog. Adv Exp Med Biol 613:139-146, 2008.
  69. Chen X, Johnson GS, Schnabel RD, Taylor JF, Johnson GC, Parker HG, Patterson EE, Katz ML, Awano T, Khan S, O’Brien DP: A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics 9:41-49, 2008.
  70. Katz ML, Johnson GS, Tullis GE and Lei B: Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis. Neurobiol Dis 29:242-253, 2008.
  71. Katz ML, Sanders DN, Mooney BP and Johnson GS: Accumulation of Glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan Terriers with hereditary neuronal ceroid lipofuscinosis. J Inherit Metabol Dis 30:952-963, 2007.
  72. Pierret C, Spears, KM, Morrison J, Maruniak JA, Katz ML and Kirk MD: Elements of a neural stem cell niche derived from embryonic stem cells. Stem Cells Dev 16:1-10, 2007.
  73. Awano T, Katz ML, Sohar I, Lobel P, Sanders DN, Khan S, Johnson GC, Giger U and Johnson GS: A frame shift mutation in the canine ortholog of human CLN2 in a juvenile dachshund with neuronal ceroid lipofuscinosis. Molec Genet Metab 89:254-260, 2006.
  74. Lei B, Tullis GE, Kirk MD, Zhang K and Katz ML. Ocular Phenotype in a Mouse Gene Knockout Model for Infantile Neuronal Ceroid-Lipofuscinosis (CLN1). J Neurosci Res 84:1139-1149, 2006.
  75. Awano T, Katz ML, O’Brien DP, Taylor JF, Evans J, Khan S, Lobel P, Sohar I, and Johnson GS. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid-lipofuscinosis. Molec Genet Metab 87:341-348, 2006.
  76. Meyer JS, Katz ML, Maruniak JA and Kirk MD. Embryonic stem cell-derived neural progenitors incorporate into degenerating retina and enhance survival of host photoreceptors. Stem Cells. 24:274-283, 2006.
  77. Narfström K, Vaegan, Katz ML, Bragadottir R, Rakoczy EP and Seeliger M. Assessment of Structure and Function over a 3-Year Period after Gene Transfer in RPE65-/- Dogs. Doc Ophthalmol 111:39-48, 2005.
  78. Meyer JS, Katz ML and Kirk MD. Stem cells for retinal degenerative disorders. Ann NY Acad Sci. 1049:135-145, 2005.
  79. Wendt, KD, Lei B, Schachtman TR, Tullis GE, Ibe ME, and Katz ML. Behavioral assessment of mouse models of ceroid-lipofuscinosis using a light-cued T-maze. Behav Brain Res 161: 175-182, 2005.
  80. Katz ML, Wendt KD and Sanders DN. RPE65 gene mutation prevents development of autofluorescence in retinal pigment epithelial phagosomes. Mech Age Dev 126:513-521, 2005.
  81. Narfström K, Katz ML, Bragadottir R, Ford M M, Redmond T M, Lai M J T, Brankov M, Barnett N L, Moore S R, Stoddart C W, Martin-Iverson M T, Rakoczy P E, Partial Recovery of Retinal Function in RPE65-/- Mice and Dogs Following rAAV-Mediated Gene Therapy. In: Redberry G W, ed. Trends in Gene Therapy Research. Hauppauge, NY: Nova Science Publishers, pp. 129-145, 2005.
  82. Evans J, Katz ML, Levesque D, Shelton D, deLahunta A and O’Brien DP. A Variant Form of Neuronal Ceroid Lipofuscinosis in American Bulldogs. J Vet Internal Med 19: 44-51, 2005.
  83. Katz ML, Khan S, Awano T, Shahid A, Siakotos AN, Johnson GS. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 327:541-547, 2005.
  84. Katz ML, Narfström K, Johnson GS, O’Brien DP. Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis. Am J Vet Res 66:67-76, 2005.
  85. Meyer JS, Katz ML, Maruniak JA, Kirk MD. Neural differentiation of mouse embryonic stem cells in vitro and after transplantation into the eyes of mice with rapid retinal degeneration. Brain Res 1014:131-144, 2004.
  86. Wendt KD , Jensen CA, Tindall R, Katz ML. Comparison of conventional and microwave-assisted processing of mouse retinas for transmission electron microscopy. J Microscopy Apr;214(Pt 1):80-8, 2004.
  87. Narfström K, Katz ML, Ford M, Redmond TM, Rakoczy E, Bragadóttir R. In vivo gene therapy in young and adult RPE65 dogs produces long-term visual improvement. J Heredity 94:31-37, 2003.
  88. Narfström K, Katz ML, Bragadottir R, Seeliger M, Boulanger A, Redmond TM, Caro L, Lai C-M, Rakozcy E. Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest Ophthalmol Vis Sci. 44:1663-1672, 2003.
  89. Hainsworth DP, Katz ML, Wright EJ, Sanders DA, Sanders DN, Sturek M. Retinal Capillary Basement Membrane Thickening in a Porcine Model of Diabetes. Comp Med 52:523-529, 2002.
  90. Katz ML, Sanders DA, Sanders DN, Hansen E, Johnson GS. Assessment of Plasma Carnitine Concentration in Relation to Ceroid-Lipofuscinosis in Tibetan Terriers. Am J Veterinary Res 63:890-895, 2002.
  91. Katz ML. Bernard Strehler: Inspiration for Basic Research into the Mechanisms of Aging. Mech Age Dev 123:831-840, 2002.
  92. Katz ML. Potential reversibility of lipofuscin accumulation. Arch Gerontol. Geriatrics. 34:311-317, 2002.
  93. Katz ML, Robison WG. What is lipofuscin? Defining characteristics and differentiation from other autofluorescent lysosomal storage bodies. Arch Gerontol Geriatrics 34:169-184, 2002.
  94. Katz ML. Potential role of retinal pigment epithelial lipofuscin accumulation in age-related macular degeneration. Arch Gerontol Geriatrics 34:359-370, 2002.
  95. Katz ML, Redmond TM. Effect of RPE65 knockout accumulation of lipofuscin fluorophores in the retinal pigment epithelium. Invest Ophthalmol Vis Sci 42:3023-3030, 2001.
  96. Siakotos AN, Hutchins GD, Farlow MR, Katz ML. Assessment of dietary therapies in a canine model of Batten disease. Eur J Paediatr Neurol 5A:151-156, 2001.
  97. Katz ML, Johnson GS. Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid-lipofuscinosis. Eur J Paediatr Neurol 5A:109-114, 2001.
  98. Katz ML, Shibuya H, Johnson GS. Animal models for the ceroid-lipofuscinoses. Adv Genetics 45:183-203, 2001.
  99. Bensaoula T, Shibuya H, Katz ML, Smith JE, Johnson GS, John SK, Milam AH. Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease. Ophthalmol 107:1746-1753, 2000.
  100. Robison WG, Jacot JL, Katz ML, Glover JP. Retinal vascular changes induced by the oxidative stress of alpha-tocopherol deficiency contrasted with diabetic microangiopathy. J Ocular Pharmacol Therapeutics. 16:109-120, 2000.
  101. Hjelmeland LM, Cristofolo VJ, Funk W, Rakoczy E, Katz ML. Senescence of the RPE. Molecular Vision 5:33, 1999.
  102. Katz ML, Liu P, Grob-Nunn S, Shibuya H, Johnson GS. Characterization and chromosomal mapping of a mouse ortholog of the late-infantile ceroid-lipofuscinosis gene CLN2. Mamm Genome 10:1050-1053, 1999.
  103. Katz ML, Shibuya H, Liu P, Kaur S, Gao C, Johnson GS. A mouse gene knockout model for juvenile ceroid-lipofuscinosis. J Neurosci Res 57:551-556, 1999.
  104. Katz ML, Gao C, Rice LM. Long-term variations in cyclic light intensity and dietary vitamin A intake modulate lipofuscin content of the retinal pigment epithelium. J Neurosci Res 57:106-116, 1999.
  105. Riis R, Jackson C, Rebhun W, Katz ML, Loew E, Summers B, Cummings J, de LaHunta A, Divers T, Mohammed H. Ocular manifestations of equine motor neuron disease. Equine Veterinary J 31:99-110, 1999.
  106. Katz ML, Rice LM, Gao C. Reversible Accumulation of lipofuscin-like inclusions in the retinal pigment epithelium. Invest Ophthalmol Vis Sci 40:175-181, 1999.
  107. Ganjam KK, Shibuya H, Stoy SJ, Liu P, Ganjam VK, Katz ML, Johnson GJ. A BstU I marker in an intron of the canine fibrillin 1 gene. Animal Genet 29:240-241, 1998.
  108. Liu P, Chen Y, Shibuya H, Katz ML, Lubahn DB, Johnson GS. A polymorphic (GA) n microsatellite in an intron of the canine endothelin-B receptor gene. Animal Genet 29:236, 1998.
  109. Liu P, Shibuya H, Katz ML, Johnson GS. A Bsm FI PCR/RFLP in the canine CD19 gene. Animal Genet 29:64-65, 1998.
  110. Shibuya H, Liu P, Katz ML, Siakotos AN, Nonneman DJ, Johnson GJ. Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid lipofuscinosis in English setter dogs. J Neurosci Res 52:268-275, 1998.
  111. Liou GI, Matragoon S, Chen D, Gao C, Fei Y, Katz ML, Stark WS. Visual Sensitivity and Interphotoreceptor retinoid-binding protein in the mouse. FASEB J 12:129-138, 1998.
  112. Siakotos AN, Blair PS, Savill JD, Katz ML. Altered mitochondrial function in canine ceroid-lipofuscinosis. Neurochem Res 23:983-989, 1998.
  113. Katz ML, Gao C, Prabhakaram M, Liu P, Shibuya H, Johnson GS. Immunochemical localization of the Batten disease (CLN3) protein in retina. Invest Ophthalmol Vis Sci 38:2373-2384, 1997.
  114. Katz ML, Rice LM, Gao C. Dietary carnitine supplements slow disease progression in a putative mouse model for hereditary ceroid-lipofuscinosis. J Neurosci Res 50:123-132, 1997.
  115. Katz ML, Siakotos AN, Gao Q, Freiha B, Chin DT. Late-infantile ceroid-lipofuscinosis: lysine methylation of mitochondrial ATP synthase subunit c from lysosomal storage bodies. Biochim Biophys Acta 1361:66-74, 1997.
  116. Katz ML, Gao C, Rice L M, Formation of Lipofuscin-like Fluorophores by Reaction of Retinal with Photoreceptor Outer Segments. Mech Age Dev 92:159-174, 1996.
  117. Katz ML, Decreased Plasma Carnitine and Trimethyl-L-Lysine Levels Associated with Lysosomal Accumulation of a Trimethyl-L-Lysine Containing Protein in Batten Disease. Biochim Biophys Acta 1317:192-198, 1996.
  118. Prabhakaram M, Katz ML, Ortwerth B J, Glycation-Mediated Crosslinking Between α-Crystallin and MP26 in Intact Lens Membranes. Mech Age Dev 91:65-78, 1996.
  119. Katz ML, Gao C, Vitamin A Incorporation into Lipofuscin-like Inclusions in the Retinal Pigment Epithelium. Mech Age Dev 84:29-38, 1995.
  120. Katz ML, Gao C, Tompkins J A, Bronson R T, Chin D T, Mitochondrial ATP Synthase Subunit C Stored in Hereditary Ceroid-Lipofuscinosis Contains Trimethyllysine. Biochem J 310:887-892, 1995.
  121. Katz ML, Siakotos A N, Canine Hereditary Ceroid-Lipofuscinosis: Evidence for a Defect in the Carnitine Biosynthetic Pathway. Am J Med Genetics 57:266-271, 1995.
  122. Katz ML, Christianson J S, Gao C, Handelman G J, Iron-Induced Fluorescence in the Retina: Dependence on Vitamin A. Invest Ophthalmol Vis Sci 35:3613-3624, 1994.
  123. Katz ML, Christianson J S, Norbury N E, Gao C, Siakotos A N, Koppang N, Lysine Methylation of Mmitochondrial ATP Synthase Subunit c Stored in Tissues of Dogs with Hereditary Ceroid-Lipofuscinosis. J Biol Chem 269:9906-9911, 1994.
  124. Katz ML, White H A, Gao C, Roth G S, Knapka J J, Ingram D K, Dietary Restriction Slows Age-Related Accumulation of Lipofuscin in the Retinal Pigment Epithelium. Invest Ophthalmol Vis Sci 34:3297-3302, 1993.
  125. Katz ML, Stientjes H J, Gao C, Christianson J S, Iron-Induced Accumulation of Lipofuscin-like Fluorescent Pigment in the Retinal Pigment Epithelium. Invest Ophthalmol Vis Sci 34:3161-3171, 1993.
  126. Katz ML, Gao C, Stientjes H J, Regulation of the Interphotoreceptor Retinoid-Binding Protein Content of the Retina by Vitamin A. Exp Eye Res 57:393-401, 1993.
  127. Katz ML, Hereditary Ceroid-Lipofuscinosis: Methylated Amino Acids in Storage Body Proteins. J Inherit Metab Dis 16:305-307, 1993.
  128. Katz ML, Chen D, Stientjes H J, Stark WS, Photoreceptor Recovery in Retinoid-Deprived Rats After Vitamin A Replenishment. Exp Eye Res 56:671-682, 1993.
  129. Katz ML, Stientjes H J, Gao C, Norberg M, Bright Environmental Light Accelerates Rhodopsin Depletion in Retinoid-Deprived Rats. Invest Ophthalmol Vis Sci 34:2000-2008, 1993.
  130. Katz ML, Age-Related Alterations in the Retina. In: Lutjen-Drecoll E, ed. Basic Aspects of Glaucoma Research III. Stuttgart: F.K. Schattauer Verlag, pp. 133-152, 1993.
  131. Katz ML, Norberg M, Stientjes H J, Reduced Phagosomal Content of the Retinal Pigment Epithelium in Response to Retinoid Deprivation. Invest Ophthalmol Vis Sci 33:2612-2618, 1992.
  132. Rodrigues M, Katz ML, Fishman G, Biochemical and Histopathological Changes in Best’s Vitelliform Macular Dystrophy. Ophthalmic Practice 10:83-85, 1992.
  133. Feeney-Burns L, Katz ML, Retinal Pigment Epithelium. In: Tasman W, Jaeger E, eds. Duane’s Foundations of Clinical Ophthalmology. Philadelphia: JB Lippincott, Chapter 21, pp. 1-20, 1992.
  134. Katz ML, Gerhardt K O, Methylated Lysine in Storage Body Potein of Sheep with Hereditary Ceroid-Lipofuscinosis. Biochim Biophys Acta 1138:97-108, 1992.
  135. Katz ML, Norberg M, Influence of Dietary Vitamin A on Autofluorescence of Leupeptin-Induced Inclusions in the Retinal Pigment Epithelium. Exp Eye Res 54:239-246, 1992.
  136. Eldred G E, Katz ML, The Lipid Peroxidation Theory of Lipofuscinogenesis Cannot Yet Be Confirmed. Free Radical Biol Med 10:445-447, 1991.
  137. Katz ML, Kutryb M J, Norberg M, Gao C, White R M, Stark W S, Maintenance of Opsin Density in Photoreceptor Outer Segments of Retinoid-Deprived Rats. Invest Ophthalmol Vis Sci 32:1968-1980, 1991.
  138. Katz ML, Rodrigues M, Juvenile Ceroid-Lipofuscinosis: Evidence for Methylated Lysine in Neural Storage Body Protein. Am J Pathol 138:323-332, 1991.
  139. Katz ML, Robison W G J, Senescent Alterations in the Retina and Retinal Pigment Epithelium: Evidence for Mechanisms Based on Nutritional Studies. In: Armstrong D, Marmor M F, Ordy J M, eds. The Effects of Aging and Environment on Vision. New York: Plenum Press, pp. 195-208, 1991.
  140. Katz ML, Gerhardt K O, Storage Protein in Hereditary Ceroid-Lipofuscinosis Contains S-Methylated Methionine. Mech Age Dev 53:277-289, 1990.
  141. Katz ML, Incomplete Proteolysis May Contribute to Lipofuscin Accumulation in the Retinal Pigment Epithelium. Adv Exp Med Biol 266:109-118, 1990.
  142. Katz ML, Shanker M J, Development of Lipofuscin-Like Fluorescence in the Retinal Pigment Epithelium in Response to Protease Inhibitor Treatment. Mech Age Dev 49:23-40, 1989.
  143. Katz ML, Robison W G Jr, Consequences of Impaired Antioxidant Protection of the Retina. In: Miquel J, Quintanilha A, Weber H, eds. Handbook of Free Radicals and Antioxidants in Biomedicine, Volume II, Boca Raton, Fla: CRC Press, Inc., pp. 289-301, 1989. Buy the book.
  144. Eldred G E, Katz ML, The Autofluorescent Products of Lipid Peroxidation May Not Be Lipofuscin-Like. Free Radical Biol Med 7:157-163, 1989.
  145. Katz ML, Eldred G E, Retinal Light Damage Reduces Autofluorescent Pigment Deposition in the Retinal Pigment Epithelium. Invest Ophthalmol Vis Sci 30:37-43, 1989.
  146. Katz ML, Eldred GE, Failure of Vitamin E to Protect the Retina Against Damage Resulting from Bright Cyclic Light Exposure. Invest Ophthalmol Vis Sci 30:29-36, 1989.
  147. Eldred G E, Katz ML, Fluorophores of the Human Retinal Pigment Epithelium: Separation and Spectral Characterization. Exp Eye Res 47:71-86, 1988.
  148. Katz ML, Eldred G E, Siakotos A N, Koppang N, Characterization of Disease-Specific Brain Fluorophores in Ceroid-Lipofuscinosis. Am J Med Genetics Suppl 5:253-264, 1988.
  149. Katz ML, Robison W G Jr, Autoxidative Damage to the Retina: Potential Role in Retinopathy of Prematurity. In: Flynn J T, Phelps D L, eds. Retinopathy of Prematurity: Problem and Challenge. New York: Alan R. Liss, Inc., pp. 237-248, 1988.
  150. Eldred G E, Katz ML, Possible Mechanism for Lipofuscinogenesis in the Retinal Pigment Epithelium and Other Tissues. In: Zs.-Nagy, ed. Lipofuscin 1987: State of the Art. Amsterdam: Elsevier Science Publishers, pp. 185-211, 1988.
  151. Katz ML, Drea C M, Robison W G Jr, Age-Related Alterations in Vitamin A Metabolism in the Rat Retina. Exp Eye Res 44:939-949, 1987.
  152. Katz ML, Robison W G Jr, Light and Aging Effects on Vitamin E in the Retina and Retinal Pigment Epithelium. Vis Res 27:1875-1879, 1987.
  153. Katz ML, Eldred G E, Robison W G Jr, Lipofuscin Autofluorescence: Evidence for Vitamin A Involvement in the Retina Mech Age Dev. 39:81-90, 1987.
  154. Katz ML, Drea C M, Robison W G Jr, Dietary Vitamins A and E Influence Retinyl Ester Content and Composition in the Retinal Pigment Epithelium. Biochim Biophys Acta 924:432-441, 1987.
  155. Katz ML, Robison W G Jr, Drea C M, Factors Influencing Lipofuscin Accumulation in the Retinal Pigment Epithelium of the Eye. In: Totaro E A, Glees P, Pisanti F A, eds. Advances in Age Pigments Research. Oxford: Pergamon Press, pp. 111-131, 1987.
  156. Robison W G Jr, Katz ML, Vitamin A and Lipofuscin. In: Sheffield J B, Hilfer S R, eds. Cell and Developmental Biology of the Eye, Vol. 6: The Microenvironment and Vision. New York: Springer-Verlag, pp. 95-122, 1987.
  157. Katz ML, Robison W G Jr, Nutritional Influences on Autoxidation, Lipofuscin Accumulation, and Aging. In: Johnson J E, Walford R, Harmon D, Miquel J, eds. Free Radicals, Aging, and Degenerative Diseases. New York: Alan R. Liss, Inc., pp. 221-259, 1986.
  158. Katz ML, Drea C M, Eldred G E, Hess H H, Robison W G Jr, Influence of Early Photoreceptor Degeneration on Lipofuscin in the Retinal Pigment Epithelium. Exp Eye Res 43:561-573, 1986.
  159. Katz ML, Drea C M, Robison W G Jr, Relationship Between Dietary Retinol and Lipofuscin in the Retinal Pigment Epithelium. Mech Age Dev 35:291-305, 1986.
  160. Katz ML, Robison W G Jr, Evidence of Cell Loss from the Rat Retina During Senescence. Exp Eye Res. 42:293-304, 1986.
  161. Nagata M, Katz ML, Robison W G Jr, Age-Related Thickening of Retinal Capillary Basement Membranes. Invest Ophthalmol Vis Sci 27:437-440, 1986.
  162. Katz ML, Groome A B, Robison W G Jr, Localization of Lipofuscin in the Duodenums of Vitamin E-Deficient Rats. J Nutr 115:1355-1365, 1985.
  163. Katz ML, Robison W G Jr, Senescence and the Retinal Pigment Epithelium: Alterations in Basal Plasma Membrane Morphology. Mech Age Dev 30:99-105, 1985.
  164. Katz ML, Robison W G Jr, Dratz E A, Potential Role of Autoxidation in Age Changes of the Retina and Retinal Pigment Epithelium of the Eye. In: Armstrong D, Sohal R S, Cutler R G, Slater T F, eds. Free Radicals in Molecular Biology, Aging, and Disease. New York; Raven Press, pp. 163-180, 1984.
  165. Katz ML, Robison W G Jr, Herrmann R K, Groome A B, Bieri J G, Lipofuscin Accumulation Resulting from Senescence and Vitamin E Deficiency: Spectral Properties and Tissue Distribution. Mech Age Dev 25:149-159, 1984.
  166. Katz ML, Robison WG Jr, Age-Related Changes in the Retinal Pigment Epithelium of Pigmented Rats. Exp Eye Res 38:137-151, 1984.
  167. Katz ML, Robison W G Jr, Lipofuscin Response to the “Aging-Reversal” Drug Centrophenoxine in Rat Retinal Pigment Epithelium and Frontal Cortex. J Gerontol 38:525-531, 1983.
  168. Katz ML, Parker K R, Handelman G J, Farnsworth C C, Dratz E A, Structural and Biochemical Effects of Antioxidant Nutrient Deficiency on the Rat Retina and Retinal Pigment Epithelium. Ann NY Acad Sci 393:196-197, 1982.
  169. Katz ML, Parker K R, Handelman G J, Bramel T L, Dratz E A, Effects of Antioxidant Nutrient Deficiency on the Retina and Retinal Pigment Epithelium of Albino Rats: A Light and Electron Microscopic Study. Exp Eye Res 34:339-369, 1982.
  170. Stone W L, Katz ML, Lurie M, Marmor M F, Dratz E A, Effects of Vitamin E and Selenium Deficiency on Light Damage to the Rat Retina. Photochem Photobiol 29:725-730, 1979.
  171. Katz ML, Stone W L, Dratz E A, Fluorescent Pigment Accumulation in Retinal Pigment Epithelium of Antioxidant Deficient Rats. Invest Ophthalmol Vis Sci 17:1049-1058, 1978.