Selected Publications

Kulikauskas MR, Oatley M, Yu T, Liu Z, Matsumura L, Kidder E, Ruter D, Bautch VL. Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development. Development. 2023 Nov 1;150(21):dev201811. doi: 10.1242/dev.201811. Epub 2023 Nov 3. PMID: 37787089; PMCID: PMC10629679.

Conner CM, van Fossan D, Read K, Cowley DO, Alvarez O, Xu SX, Webb DR, Jarnagin K. A precisely humanized FCRN transgenic mouse for preclinical pharmacokinetics studies. Biochem Pharmacol. 2023 Apr;210:115470. doi: 10.1016/j.bcp.2023.115470. Epub 2023 Mar 2. PMID: 36870576.

Sun L, Feng H, Misumi I, Shirasaki T, Hensley L, González-López O, Shiota I, Chou WC, Ting JP, Cullen JM, Cowley DO, Whitmire JK, Lemon SM. Viral protease cleavage of MAVS in genetically modified mice with hepatitis A virus infection. J Hepatol. 2023 Feb;78(2):271-280. doi: 10.1016/j.jhep.2022.09.013. Epub 2022 Sep 22. PMID: 36152761.

D’Amato G, Phansalkar R, Naftaly JA, Fan X, Amir ZA, Rios Coronado PE, Cowley DO, Quinn KE, Sharma B, Caron KM, Vigilante A, Red-Horse K. Endocardium-to-coronary artery differentiation during heart development and regeneration involves sequential roles of Bmp2 and Cxcl12/Cxcr4. Dev Cell. 2022 Nov 21;57(22):2517-2532.e6. doi: 10.1016/j.devcel.2022.10.007. Epub 2022 Nov 7. PMID: 36347256; PMCID: PMC9833645.

Punt AM, Judson MC, Sidorov MS, Williams BN, Johnson NS, Belder S, den Hertog D, Davis CR, Feygin MS, Lang PF, Jolfaei MA, Curran PJ, van IJcken WF, Elgersma Y, Philpot BD. Molecular and behavioral consequences of Ube3a gene overdosage in mice. JCI Insight. 2022 Sep 22;7(18):e158953. doi: 10.1172/jci.insight.158953. PMID: 36134658; PMCID: PMC9675564.

Kim H, Gao EB, Draper A, Berens NC, Vihma H, Zhang X, Higashi-Howard A, Ritola KD, Simon JM, Kennedy AJ, Philpot BD. Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Tcf4 expression. Elife. 2022 May 10;11:e72290. doi: 10.7554/eLife.72290. PMID: 35535852; PMCID: PMC9090324.

Lee RH, Kawano T, Grover SP, Bharathi V, Martinez D, Cowley DO, Mackman N, Bergmeier W, Antoniak S. Genetic deletion of platelet PAR4 results in reduced thrombosis and impaired hemostatic plug stability. J Thromb Haemost. 2022 Feb;20(2):422-433. doi: 10.1111/jth.15569. Epub 2021 Nov 10. PMID: 34689407; PMCID: PMC8792346.

Swahari V, Nakamura A, Hollville E, Stroud H, Simon JM, Ptacek TS, Beck MV, Flowers C, Guo J, Plestant C, Liang J, Kurtz CL, Kanke M, Hammond SM, He YW, Anton ES, Sethupathy P, Moy SS, Greenberg ME, Deshmukh M. MicroRNA-29 is an essential regulator of brain maturation through regulation of CH methylation. Cell Rep. 2021 Apr 6;35(1):108946. PMID: 33826889.

Fan H, Guo Y, Tsai YH, Storey AJ, Kim A, Gong W, Edmondson RD, Mackintosh SG, Li H, Byrum SD, Tackett AJ, Cai L, Wang GG. A conserved BAH module within mammalian BAHD1 connects H3K27me3 to Polycomb gene silencing. Nucleic Acids Res. 2021 Apr 6. PMID: 33823544.

Fan H, Lu J, Guo Y, Li D, Zhang ZM, Tsai YH, Pi WC, Ahn JH, Gong W, Xiang Y, Allison DF, Geng H, He S, Diao Y, Chen WY, Strahl BD, Cai L, Song J, Wang GG. BAHCC1 binds H3K27me3 via a conserved BAH module to mediate gene silencing and oncogenesis. Nat Genet. 2020 Nov 2. PMID: 33139953

Borrás T, Cowley DO, Asokan P, Pandya K. Generation of a Matrix Gla (Mgp) floxed mouse, followed by conditional knockout, uncovers a new Mgp function in the eye. Sci Rep. 2020 Oct 29;10(1):18583. doi: 10.1038/s41598-020-75031-7. PMID: 33122788; PMCID: PMC7596545.

Trotman JB, Lee DM, Cherney RE, Kim SO, Inoue K, Schertzer MD, Bischoff SR, Cowley DO, Calabrese JM. Elements at the 5′ end of Xist harbor SPEN-independent transcriptional antiterminator activity. Nucleic Acids Res. 2020 Oct 9;48(18):10500-10517. doi: 10.1093/nar/gkaa789. PMID: 32986830; PMCID: PMC7544216.

Jiménez JA, Ptacek TS, Tuttle AH, Schmid RS, Moy SS, Simon JM, Zylka MJ. Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life. Mol Autism. 2020 Oct 5;11(1):74. doi: 10.1186/s13229-020-00369-8. Erratum in: Mol Autism. 2021 May 8;12(1):33. PMID: 33023670; PMCID: PMC7537101.

Laudermilk LT, Tovar A, Homstad AK, Thomas JM, McFadden KM, Tune MK, Cowley DO, Mock JR, Ideraabdullah F, Kelada SNP. Baseline and innate immune response characterization of a Zfp30 knockout mouse strain. Mamm Genome. 2020 Aug;31(7-8):205-214. doi: 10.1007/s00335-020-09847-z. Epub 2020 Aug 29. PMID: 32860515; PMCID: PMC7486244.

McCann JV, Bischoff SR, Zhang Y, Cowley DO, Sanchez-Gonzalez V, Daaboul GD, Dudley AC. Reporter mice for isolating and auditing cell type-specific extracellular vesicles in vivo. Genesis. 2020 Jul;58(7):e23369. doi: 10.1002/dvg.23369. Epub 2020 Jun 16. PMID: 32543746; PMCID: PMC7405599.

Kim H, Berens NC, Ochandarena NE, Philpot BD. Region and Cell Type Distribution of TCF4 in the Postnatal Mouse Brain. Front Neuroanat. 2020 Jul 17;14:42. doi: 10.3389/fnana.2020.00042. PMID: 32765228; PMCID: PMC7379912.

Kolesnikov AV, Chrispell JD, Osawa S, Kefalov VJ, Weiss ER. Phosphorylation at Serine 21 in G protein-coupled receptor kinase 1 (GRK1) is required for normal kinetics of dark adaption in rod but not cone photoreceptors. FASEB J. 2020 Feb;34(2):2677-2690. PMID: 31908030

Deem TL, Collins JB, DeVost MH, Parker CO, Saroka SC, Zoldork RJ, Gutierrez F, Russell JM, Lantz CS. Assessment of faithful interleukin-3 production by novel bicistronic interleukin-3 reporter mice. Immunol Lett. 2020 May;221:18-26. doi: 10.1016/j.imlet.2020.02.006. Epub 2020 Feb 18. PMID: 32084428; PMCID: PMC7157941.

Michaud D, Mirlekar B, Bischoff S, Cowley DO, Vignali DAA, Pylayeva-Gupta Y. Pancreatic cancer-associated inflammation drives dynamic regulation of p35 and Ebi3.Cytokine. 2020 Jan;125:154817. PMID: 31472403

Schertzer MD, Braceros KCA, Starmer J, Cherney RE, Lee DM, Salazar G, Justice M, Bischoff SR, Cowley DO, Ariel P, Zylka MJ, Dowen JM, Magnuson T, Calabrese JM. lncRNA-Induced Spread of Polycomb Controlled by Genome Architecture, RNA Abundance, and CpG Island DNA. Mol Cell. 2019 Aug 8;75(3):523-537. PMID: 31256989

Lee DM, Trotman JB, Cherney RE, Inoue K, Schertzer MD, Bischoff SR, Cowley DO, Calabrese JM. A 5′ fragment of Xist can sequester RNA produced from adjacent genes on chromatin.Nucleic Acids Res. 2019 Jul 26;47(13):7049-7062. PMID: 31114903

Bartsch VB, Lord JS, Diering GH, Zylka MJ. Mania- and anxiety-like behavior and impaired maternal care in female diacylglycerol kinase eta and iota double knockout mice. Genes Brain Behav. 2020 Mar;19(3):e12570. doi: 10.1111/gbb.12570. Epub 2019 Apr 29. PMID: 30985063; PMCID: PMC6800745.

Offenbacher S, Jiao Y, Kim SJ, Marchesan J, Moss KL, Jing L, Divaris K, Bencharit S, Agler CS, Morelli T, Zhang S, Sun L, Seaman WT, Cowley D, Barros SP, Beck JD, Munz M, Schaefer AS, North KE. GWAS for Interleukin-1β levels in gingival crevicular fluid identifies IL37 variants in periodontal inflammation. Nat Commun. 2018 Sep 11;9(1):3686. PMID: 30206230

Tarragó MG, Chini CCS, Kanamori KS, Warner GM, Caride A, de Oliveira GC, Rud M, Samani A, Hein KZ, Huang R, Jurk D, Cho DS, Boslett JJ, Miller JD, Zweier JL, Passos JF, Doles JD, Becherer DJ, Chini EN. A Potent and Specific CD38 Inhibitor Ameliorates Age-Related Metabolic Dysfunction by Reversing Tissue NAD+ Decline. Cell Metab. 2018 May 1;27(5):1081-1095. PMID: 29719225

Wu Q, Moeller HB, Stevens DA, Sanchez-Hodge R, Childers G, Kortenoeven MLA, Cheng L, Rosenbaek LL, Rubel C, Patterson C, Pisitkun T, Schisler JC, Fenton RA. CHIP Regulates Aquaporin-2 Quality Control and Body Water Homeostasis. J Am Soc Nephrol. 2018 Mar;29(3):936-948. PMID: 29242247

Killion EA, Reeves AR, El Azzouny MA, Yan QW, Surujon D, Griffin JD, Bowman TA, Wang C, Matthan NR, Klett EL, Kong D, Newman JW, Han X, Lee MJ, Coleman RA, Greenberg AS. A role for long-chain acyl-CoA synthetase-4 (ACSL4) in diet-induced phospholipid remodeling and obesity-associated adipocyte dysfunction. Mol Metab. 2018 Mar; 9:43-56. PMID: 29398618

Thaxton C, Kloth AD, Clark EP, Moy SS, Chitwood RA, Philpot BD. Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. J Neurosci. 2018 Jan 24;38(4):918-936. doi: 10.1523/JNEUROSCI.1305-17.2017. Epub 2017 Dec 8. PMID: 29222403; PMCID: PMC5783968.

Dai J, Kumbhare A, Youssef D, McCall CE, El Gazzar M. Intracellular S100A9 Promotes Myeloid-Derived Suppressor Cells during Late Sepsis. Front Immunol. 2017 Nov 17;8:1565. PMID: 29204146

McCoy ES, Taylor-Blake B, Aita M, Simon JM, Philpot BD, Zylka MJ. Enhanced Nociception in Angelman Syndrome Model Mice. J Neurosci. 2017 Oct 18;37(42):10230-10239. doi: 10.1523/JNEUROSCI.1018-17.2017. Epub 2017 Sep 20. PMID: 28931574; PMCID: PMC5647775.

Matson BC, Pierce SL, Espenschied ST, Holle E, Sweatt IH, Davis ES, Tarran R, Young SL, Kohout TA, van Duin M, Caron KM. Adrenomedullin improves fertility and promotes pinopodes and cell junctions in the peri-implantation endometrium. Biol Reprod. 2017 Sep 1;97(3):466-477. PMID: 29025060; PMCID: PMC6248476.

McPeak MB, Youssef D, Williams DA, Pritchett CL, Yao ZQ, McCall CE, El Gazzar M. Frontline Science: Myeloid cell-specific deletion of Cebpb decreases sepsis-induced immunosuppression in mice. J Leukoc Biol. 2017 Aug;102(2):191-200. PMID: 28476751

McPeak MB, Youssef D, Williams DA, Pritchett C, Yao ZQ, McCall CE, El Gazzar M. Myeloid Cell-Specific Knockout of NFI-A Improves Sepsis Survival. Infect Immun. 2017 Mar 23;85(4). PMID: 28167668

Cockrell AS, Yount BL, Scobey T, Jensen K, Douglas M, Beall A, Tang XC, Marasco WA, Heise MT, Baric RS. A mouse model for MERS coronavirus-induced acute respiratory distress syndrome. Nat Microbiol. 2016 Nov 28;2:16226. PMID: 27892925

Lucitti JL, Sealock R, Buckley BK, Zhang H, Xiao L, Dudley AC, Faber JE. Variants of Rab GTPase-Effector Binding Protein-2 Cause Variation in the Collateral Circulation and Severity of Stroke. Stroke. 2016 Dec;47(12):3022-3031. PMID: 27811335

Piatt R, Paul DS, Lee RH, McKenzie SE, Parise LV, Cowley DO, Cooley BC, Bergmeier W. Mice Expressing Low Levels of CalDAG-GEFI Exhibit Markedly Impaired Platelet Activation With Minor Impact on Hemostasis. Arterioscler Thromb Vasc Biol. 2016 Sep;36(9):1838-46. PMID: 27417588

Bultman SJ, Holley DW, G de Ridder G, Pizzo SV, Sidorova TN, Murray KT, Jensen BC, Wang Z, Bevilacqua A, Chen X, Quintana MT, Tannu M, Rosson GB, Pandya K, Willis MS. BRG1 and BRM SWI/SNF ATPases redundantly maintain cardiomyocyte homeostasis by regulating cardiomyocyte mitophagy and mitochondrial dynamics in vivo. Cardiovasc Pathol. 2016 May-Jun;25(3):258-269. doi: 10.1016/j.carpath.2016.02.004. Epub 2016 Mar 4. PMID: 27039070; PMCID: PMC4860071.

Mabb AM, Simon JM, King IF, Lee HM, An LK, Philpot BD, Zylka MJ. Topoisomerase 1 Regulates Gene Expression in Neurons through Cleavage Complex-Dependent and -Independent Mechanisms. PLoS One. 2016 May 27;11(5):e0156439. doi: 10.1371/journal.pone.0156439. PMID: 27231886; PMCID: PMC4883752.

Stumpo DJ, Trempus CS, Tucker CJ, Huang W, Li L, Kluckman K, Bortner DM, Blackshear PJ. Deficiency of the placenta- and yolk sac-specific tristetraprolin family member ZFP36L3 identifies likely mRNA targets and an unexpected link to placental iron metabolism. Development. 2016 Apr 15;143(8):1424-33. PMID: 26952984

Judson MC, Wallace ML, Sidorov MS, Burette AC, Gu B, van Woerden GM, King IF, Han JE, Zylka MJ, Elgersma Y, Weinberg RJ, Philpot BD. GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility. Neuron. 2016 Apr 6;90(1):56-69. doi: 10.1016/j.neuron.2016.02.040. Epub 2016 Mar 24. PMID: 27021170; PMCID: PMC4824651.

Berrios J, Stamatakis AM, Kantak PA, McElligott ZA, Judson MC, Aita M, Rougie M, Stuber GD, Philpot BD. Loss of UBE3A from TH-expressing neurons suppresses GABA co-release and enhances VTA-NAc optical self-stimulation. Nat Commun. 2016 Feb 12;7:10702. doi: 10.1038/ncomms10702. PMID: 26869263; PMCID: PMC4754338.

Bruinsma CF, Schonewille M, Gao Z, Aronica EM, Judson MC, Philpot BD, Hoebeek FE, van Woerden GM, De Zeeuw CI, Elgersma Y. Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model. J Clin Invest. 2015 Nov 2;125(11):4305-15. doi: 10.1172/JCI83541. Epub 2015 Oct 20. PMID: 26485287; PMCID: PMC4639977.

Culton DA, McCray SK, Park M, Roberts JC, Li N, Zedek DC, Anhalt GJ, Cowley DO, Liu Z, Diaz LA. Mucosal pemphigus vulgaris anti-Dsg3 IgG is pathogenic to the oral mucosa of humanized Dsg3 mice. J Invest Dermatol. 2015 Jun;135(6):1590-7

Shadpour H, Sims CE, Thresher RJ, Allbritton NL. Sorting and expansion of murine embryonic stem cell colonies using micropallet arrays. Cytometry A. 2008 Nov 14;75A(2):121-129.

Weimer JM, Stanco A, Cheng JG, Vargo AC, Voora S, Anton ES. A BAC transgenic mouse model to analyze the function of astroglial SPARCL1 (SC1) in the central nervous system. Glia. 2008 Jul;56(9):935-41.

Chamberlain SJ, Yee D, Magnuson T. Polycomb repressive complex 2 is dispensable for maintenance of embryonic stem cell pluripotency. Stem Cells. 2008 Jun;26(6):1496-505.

Wooldridge AA, Fortner CN, Lontay B, Akimoto T, Neppl RL, Facemire C, Datto MB, Kwon A, McCook E, Li P, Wang S, Thresher RJ, Miller SE, Perriard JC, Gavin TP, Hickner RC, Coffman TM, Somlyo AV, Yan Z, Haystead TA. Deletion of the protein kinase A/protein kinase G target SMTNL1 promotes an exercise-adapted phenotype in vascular smooth muscle. J Biol Chem. 2008 Apr 25;283(17):11850-9.

Makhanova N, Hagaman J, Kim HS, Smithies O.  Salt-sensitive blood pressure in mice with increased expression of aldosterone synthase. Hypertension. 2008 Jan;51(1):134-40. Epub 2007 Nov 26.

Buhusi M, Schlatter MC, Demyanenko GP, Thresher R, Maness PF. L1 interaction with ankyrin regulates mediolateral topography in the retinocollicular projection. J Neurosci. 2008 Jan 2;28(1):177-88.

Mall MA, Harkema JR, Trojanek JB, Treis D, Livraghi A, Schubert S, Zhou Z, Kreda SM, Tilley SL, Hudson EJ, O’Neal WK, Boucher RC. Development of chronic bronchitis and emphysema in beta-epithelial Na+ channel-overexpressing mice. Am J Respir Crit Care Med. 2008 Apr 1;177(7):730-42. Epub 2007 Dec 13.

Chrzanowska-Wodnicka M, Kraus AE, Gale D, White GC 2nd, Vansluys J. Defective angiogenesis, endothelial migration, proliferation, and MAPK signaling in Rap1b-deficient mice. Blood. 2008 Mar 1;111(5):2647-56. Epub 2007 Nov 9.

Zayed MA, Yuan W, Leisner TM, Chalothorn D, McFadden AW, Schaller MD, Hartnett ME, Faber JE, Parise LV. CIB1 regulates endothelial cells and ischemia-induced pathological and adaptive angiogenesis. Circ Res. 2007 Nov 26;101(11):1185-93. Epub 2007 Nov 1.

Yamaguchi N, Takahashi N, Xu L, Smithies O, Meissner G. Early cardiac hypertrophy in mice with impaired calmodulin regulation of cardiac muscle Ca release channel. J Clin Invest. 2007 May;117(5):1344-53. Epub 2007 Apr 12.

Yuan W, Leisner TM, McFadden AW, Clark S, Hiller S, Maeda N, O’Brien DA, Parise LV. CIB1 is essential for mouse spermatogenesis. Mol Cell Biol. 2006 Nov; 26(22):8507-14.

Bultman SJ, Gebuhr TC, Pan H, Svoboda P, Schultz RM, Magnuson T. Maternal BRG1 regulates zygotic genome activation in the mouse. Genes Dev. 2006 Jul 1;20(13):1744-54.

Richardson RT, Alekseev OM, Grossman G, Widgren EE, Thresher R, Wagner EJ, Sullivan KD, Marzluff WF, O’Rand MG. Nuclear autoantigenic sperm protein (NASP), a linker histone chaperone that is required for cell proliferation. J Biol Chem. 2006 Jul 28;281(30):21526-34.

Ciavatta D, Kalantry S, Magnuson T, Smithies O. A DNA insulator prevents repression of a targeted X-linked transgene but not its random or imprinted X inactivation. Proc Natl Acad Sci U S A. 2006 Jun 27; 103(26):9958-63

Borghei A, Ouyang YB, Westmuckett AD, Marcello MR, Landel CP, Evans JP, Moore KL. Targeted disruption of tyrosylprotein sulfotransferase-2, an enzyme that catalyzes post-translational protein tyrosine O-sulfation, causes male infertility. J Biol Chem. 2006 Apr 7; 281(14):9423-31.

Morin-Kensicki EM, Boone BN, Howell M, Stonebraker JR, Teed J, Alb JG, Magnuson TR, O’Neal W, Milgram SL. Defects in yolk sac vasculogenesis, chorioallantoic fusion, and embryonic axis elongation in mice with targeted disruption of Yap65. Mol Cell Biol. 2006 Jan; 26(1):77-87.

Cowley DO, Muse GW, Van Dyke T. A dominant interfering Bub1 mutant is insufficient to induce or alter thymic tumorigenesis in vivo, even in a sensitized genetic background. Mol Cell Biol. 2005 Sep; 25(17):7796-802.

Makhanova N, Lee G, Takahashi N, Sequeira Lopez ML, Gomez RA, Kim HS, Smithies O. Kidney function in mice lacking aldosterone. Am J Physiol Renal Physiol. 2006 Jan; 290(1):F61-9.

Brazel CY, Limke TL, Osborne JK, Miura T, Cai J, Pevny L, Rao MS. Sox2 expression defines a heterogeneous population of neurosphere-forming cells in the adult murine brain. Aging Cell. 2005 Aug; 4(4):197-207.

Frederick JP, Mattiske D, Wofford JA, Megosh LC, Drake LY, Chiou ST, Hogan BL, York JD. An essential role for an inositol polyphosphate multikinase, Ipk2, in mouse embryogenesis and second messenger production. Proc Natl Acad Sci U S A. 2005 Jun 14;102(24):8454-9. Epub 2005 Jun 6.

Chrzanowska-Wodnicka M, Smyth SS, Schoenwaelder SM, Fischer TH, White GC 2nd. Rap1b is required for normal platelet function and hemostasis in mice. J Clin Invest. 2005 Mar;115(3):680-7. Erratum in: J Clin Invest. 2005 Aug;115(8):2296.

Takahashi N, Lopez ML, Cowhig JE Jr, Taylor MA, Hatada T, Riggs E, Lee G, Gomez RA, Kim HS, Smithies O. Ren1c homozygous null mice are hypotensive and polyuric, but heterozygotes are indistinguishable from wild-type. J Am Soc Nephrol. 2005 Jan; 16(1):125-32.

Matsuda J, Kido M, Tadano-Aritomi K, Ishizuka I, Tominaga K, Toida K, Takeda E, Suzuki K, Kuroda Y. Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse. Hum Mol Genet. 2004 Nov 1; 13(21):2709-23.

Yagi T, Matsuda J, Takikita S, Mohri I, Suzuki K, Suzuki K. Comparative clinico-pathological study of saposin-A-deficient (SAP-A-/-) and Twitcher mice. J Neuropathol Exp Neurol. 2004 Jul;63(7):721-34

Mall M, Grubb BR, Harkema JR, O’Neal WK, Boucher RC. Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice. Nat Med. 2004 May;10(5):487-93. Epub 2004 Apr 11.

Ostrowski LE, Hutchins JR, Zakel K, O’Neal WK. Targeting expression of a transgene to the airway surface epithelium using a ciliated cell-specific promoter. Mol Ther. 2003 Oct;8(4):637-45.

Ouyang YB, Crawley JT, Aston CE, Moore KL. Reduced body weight and increased postimplantation fetal death in tyrosylprotein sulfotransferase-1-deficient mice. J Biol Chem. 2002 Jun 28; 277(26):23781-7.

Matsuda J, Vanier MT, Saito Y, Tohyama J, Suzuki K, Suzuki K. A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. Hum Mol Genet. 2001 May 15; 10(11):1191-9.