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Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.

Li Y, Xu Y, Benitez BA, Nagree MS, Dearborn JT, Jiang X, Guzman MA, Woloszynek JC, Giaramita A, Yip BK, Elsbernd J, Babcock MC, Lo M, Fowler SC, Wozniak DF, Vogler CA, Medin JA, Crawford BE, Sands MS.

Proc Natl Acad Sci U S A. 2019 Sep 16. pii: 201912108. doi: 10.1073/pnas.1912108116. [Epub ahead of print]


Cell-Type-Specific Profiling of Alternative Translation Identifies Regulated Protein Isoform Variation in the Mouse Brain.

Sapkota D, Lake AM, Yang W, Yang C, Wesseling H, Guise A, Uncu C, Dalal JS, Kraft AW, Lee JM, Sands MS, Steen JA, Dougherty JD.

Cell Rep. 2019 Jan 15;26(3):594-607.e7. doi: 10.1016/j.celrep.2018.12.077.


Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis.

Lange J, Haslett LJ, Lloyd-Evans E, Pocock JM, Sands MS, Williams BP, Cooper JD.

Acta Neuropathol Commun. 2018 Aug 8;6(1):74. doi: 10.1186/s40478-018-0575-4.


A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum.

Sidhu R, Mikulka CR, Fujiwara H, Sands MS, Schaffer JE, Ory DS, Jiang X.

Biomed Chromatogr. 2018 Jul;32(7):e4235. doi: 10.1002/bmc.4235. Epub 2018 Apr 26.


A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I.

Le SQ, Kan SH, Clarke D, Sanghez V, Egeland M, Vondrak KN, Doherty TM, Vera MU, Iacovino M, Cooper JD, Sands MS, Dickson PI.

Mol Ther Methods Clin Dev. 2017 Oct 5;8:42-51. doi: 10.1016/j.omtm.2017.09.008. eCollection 2018 Mar 16.


Synergistic effects of treating the spinal cord and brain in CLN1 disease.

Shyng C, Nelvagal HR, Dearborn JT, Tyynelä J, Schmidt RE, Sands MS, Cooper JD.

Proc Natl Acad Sci U S A. 2017 Jul 18;114(29):E5920-E5929. doi: 10.1073/pnas.1701832114. Epub 2017 Jul 3.


Recombinant Adeno-Associated Viral Integration and Genotoxicity: Insights from Animal Models.

Chandler RJ, Sands MS, Venditti CP.

Hum Gene Ther. 2017 Apr;28(4):314-322. doi: 10.1089/hum.2017.009.


Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1.

Shyng C, Macauley SL, Dearborn JT, Sands MS.

JIMD Rep. 2017;36:85-92. doi: 10.1007/8904_2017_1. Epub 2017 Feb 18.


Hematopoietic Stem cell transplantation and lentiviral vector-based gene therapy for Krabbe's disease: Present convictions and future prospects.

Hu P, Li Y, Nikolaishvili-Feinberg N, Scesa G, Bi Y, Pan D, Moore D, Bongarzone ER, Sands MS, Miller R, Kafri T.

J Neurosci Res. 2016 Nov;94(11):1152-68. doi: 10.1002/jnr.23847.


Treatment for Krabbe's disease: Finding the combination.

Mikulka CR, Sands MS.

J Neurosci Res. 2016 Nov;94(11):1126-37. doi: 10.1002/jnr.23822. Review.


Insights into the Pathogenesis and Treatment of Krabbe Disease.

Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:689-96. Review.


Overcoming the Next Barriers to Successful Therapy.

Cohen IJ, Baris H, Mistry PK, Sands MS.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:629. No abstract available.


Behavioral deficits and cholinergic pathway abnormalities in male Sanfilippo B mice.

Kan SH, Le SQ, Bui QD, Benedict B, Cushman J, Sands MS, Dickson PI.

Behav Brain Res. 2016 Oct 1;312:265-71. doi: 10.1016/j.bbr.2016.06.023. Epub 2016 Jun 23.


Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS.

J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23.


Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.

Benitez BA, Cairns NJ, Schmidt RE, Morris JC, Norton JB, Cruchaga C, Sands MS.

Acta Neuropathol Commun. 2015 Nov 26;3:73. doi: 10.1186/s40478-015-0256-5.


Histochemical localization of palmitoyl protein thioesterase-1 activity.

Dearborn JT, Ramachandran S, Shyng C, Lu JY, Thornton J, Hofmann SL, Sands MS.

Mol Genet Metab. 2016 Feb;117(2):210-6. doi: 10.1016/j.ymgme.2015.11.004. Epub 2015 Nov 11.


Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers.

Dearborn JT, Harmon SK, Fowler SC, O'Malley KL, Taylor GT, Sands MS, Wozniak DF.

Sci Rep. 2015 Aug 4;5:12752. doi: 10.1038/srep12752.


Generation of a stable packaging cell line producing high-titer PPT-deleted integration-deficient lentiviral vectors.

Hu P, Li Y, Sands MS, McCown T, Kafri T.

Mol Ther Methods Clin Dev. 2015 Jul 22;2:15025. doi: 10.1038/mtm.2015.25. eCollection 2015.


Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy.

Hawkins-Salsbury JA, Shea L, Jiang X, Hunter DA, Guzman AM, Reddy AS, Qin EY, Li Y, Gray SJ, Ory DS, Sands MS.

J Neurosci. 2015 Apr 22;35(16):6495-505. doi: 10.1523/JNEUROSCI.4199-14.2015.


Mucopolysaccharidosis type VII: A powerful experimental system and therapeutic challenge.

Sands MS.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:159-65. Review.


Treatment for Lsds: real options for several diseases. Forward.

Cohen IJ, Baris HN, Mistry PK, Sands MS.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:71. No abstract available.


An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis.

Macauley SL, Wong AM, Shyng C, Augner DP, Dearborn JT, Pearse Y, Roberts MS, Fowler SC, Cooper JD, Watterson DM, Sands MS.

J Neurosci. 2014 Sep 24;34(39):13077-82. doi: 10.1523/JNEUROSCI.2518-14.2014.


Experimental therapies in the murine model of globoid cell leukodystrophy.

Li Y, Sands MS.

Pediatr Neurol. 2014 Nov;51(5):600-6. doi: 10.1016/j.pediatrneurol.2014.08.003. Epub 2014 Aug 8. Review.


Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?

Shyng C, Sands MS.

Biochem Soc Trans. 2014 Oct;42(5):1282-5. doi: 10.1042/BST20140188.


A Hitchhiker's guide to the blood-brain barrier: in trans delivery of a therapeutic enzyme.

Sands MS.

Mol Ther. 2014 Mar;22(3):483-484. doi: 10.1038/mt.2014.12. No abstract available.


Adeno-associated virus serotypes 9 and rh10 mediate strong neuronal transduction of the dog brain.

Swain GP, Prociuk M, Bagel JH, O'Donnell P, Berger K, Drobatz K, Gurda BL, Haskins ME, Sands MS, Vite CH.

Gene Ther. 2014 Jan;21(1):28-36. doi: 10.1038/gt.2013.54. Epub 2013 Oct 17.


Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease).

Sands MS.

J Child Neurol. 2013 Sep;28(9):1151-8. doi: 10.1177/0883073813495960.


Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture.

Hawkins-Salsbury JA, Parameswar AR, Jiang X, Schlesinger PH, Bongarzone E, Ory DS, Demchenko AV, Sands MS.

J Lipid Res. 2013 Dec;54(12):3303-11. doi: 10.1194/jlr.M039610. Epub 2013 Sep 4.


Central nervous system pathology progresses independently of KC and CXCR2 in globoid-cell leukodystrophy.

Reddy AS, Patel JR, Vogler C, Klein RS, Sands MS.

PLoS One. 2013 Jun 3;8(6):e64647. doi: 10.1371/journal.pone.0064647. Print 2014.


Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).

Hawkins-Salsbury JA, Cooper JD, Sands MS.

Biochim Biophys Acta. 2013 Nov;1832(11):1906-9. doi: 10.1016/j.bbadis.2013.05.026. Epub 2013 Jun 6. Review.


Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology.

Sands MS.

EMBO Mol Med. 2013 Jun;5(6):799-801. doi: 10.1002/emmm.201302781. Epub 2013 May 13. No abstract available.


Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice.

Heldermon CD, Qin EY, Ohlemiller KK, Herzog ED, Brown JR, Vogler C, Hou W, Orrock JL, Crawford BE, Sands MS.

Gene Ther. 2013 Sep;20(9):913-21. doi: 10.1038/gt.2013.14. Epub 2013 Mar 28.


Oxidative stress as a therapeutic target in globoid cell leukodystrophy.

Hawkins-Salsbury JA, Qin EY, Reddy AS, Vogler CA, Sands MS.

Exp Neurol. 2012 Oct;237(2):444-52. doi: 10.1016/j.expneurol.2012.07.013. Epub 2012 Jul 28.


Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy.

Qin EY, Hawkins-Salsbury JA, Jiang X, Reddy AS, Farber NB, Ory DS, Sands MS.

Mol Genet Metab. 2012 Sep;107(1-2):186-96. doi: 10.1016/j.ymgme.2012.05.021. Epub 2012 Jun 1.


Background mutations in parental cells account for most of the genetic heterogeneity of induced pluripotent stem cells.

Young MA, Larson DE, Sun CW, George DR, Ding L, Miller CA, Lin L, Pawlik KM, Chen K, Fan X, Schmidt H, Kalicki-Veizer J, Cook LL, Swift GW, Demeter RT, Wendl MC, Sands MS, Mardis ER, Wilson RK, Townes TM, Ley TJ.

Cell Stem Cell. 2012 May 4;10(5):570-82. doi: 10.1016/j.stem.2012.03.002. Epub 2012 Apr 26.


Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis.

Macauley SL, Roberts MS, Wong AM, McSloy F, Reddy AS, Cooper JD, Sands MS.

Ann Neurol. 2012 Jun;71(6):797-804. doi: 10.1002/ana.23545. Epub 2012 Feb 24.


Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis.

Roberts MS, Macauley SL, Wong AM, Yilmas D, Hohm S, Cooper JD, Sands MS.

J Inherit Metab Dis. 2012 Sep;35(5):847-57. doi: 10.1007/s10545-011-9446-x. Epub 2012 Feb 7.


Bone Marrow Transplantation Alters the Tremor Phenotype in the Murine Model of Globoid-Cell Leukodystrophy.

Reddy AS, Wozniak DF, Farber NB, Dearborn JT, Fowler SC, Sands MS.

J Clin Med. 2012 Jan 19;1(1):1-14. doi: 10.3390/jcm1010001.


Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C.

PLoS One. 2011;6(11):e26741. doi: 10.1371/journal.pone.0026741. Epub 2011 Nov 4.


AAV-mediated liver-directed gene therapy.

Sands MS.

Methods Mol Biol. 2011;807:141-57. doi: 10.1007/978-1-61779-370-7_6.


The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.

Macauley SL, Pekny M, Sands MS.

J Neurosci. 2011 Oct 26;31(43):15575-85. doi: 10.1523/JNEUROSCI.3579-11.2011.


Bone marrow transplantation augments the effect of brain- and spinal cord-directed adeno-associated virus 2/5 gene therapy by altering inflammation in the murine model of globoid-cell leukodystrophy.

Reddy AS, Kim JH, Hawkins-Salsbury JA, Macauley SL, Tracy ET, Vogler CA, Han X, Song SK, Wozniak DF, Fowler SC, Klein RS, Sands MS.

J Neurosci. 2011 Jul 6;31(27):9945-57. doi: 10.1523/JNEUROSCI.1802-11.2011.


Lentiviral-mediated gene transfer to the sheep brain: implications for gene therapy in Batten disease.

Linterman KS, Palmer DN, Kay GW, Barry LA, Mitchell NL, McFarlane RG, Black MA, Sands MS, Hughes SM.

Hum Gene Ther. 2011 Aug;22(8):1011-20. doi: 10.1089/hum.2011.026. Epub 2011 May 19.


Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts?

Hawkins-Salsbury JA, Reddy AS, Sands MS.

Hum Mol Genet. 2011 Apr 15;20(R1):R54-60. doi: 10.1093/hmg/ddr112. Epub 2011 Mar 19. Review.


Oligodendrocyte degeneration and recovery after focal cerebral ischemia.

McIver SR, Muccigrosso M, Gonzales ER, Lee JM, Roberts MS, Sands MS, Goldberg MP.

Neuroscience. 2010 Sep 1;169(3):1364-75. doi: 10.1016/j.neuroscience.2010.04.070. Epub 2010 May 31.


Concise Synthesis of the Unnatural Sphingosine and Psychosine Enantiomer.

Parameswar AR, Hawkins JA, Mydock LK, Sands MS, Demchenko AV.

European J Org Chem. 2010 Jun;2010(17). doi: 10.1002/ejoc.201000024.


Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB.

Heldermon CD, Ohlemiller KK, Herzog ED, Vogler C, Qin E, Wozniak DF, Tan Y, Orrock JL, Sands MS.

Mol Ther. 2010 May;18(5):873-80. doi: 10.1038/mt.2010.17. Epub 2010 Feb 23.


Metabolic adaptations to interrupted glycosaminoglycan recycling.

Woloszynek JC, Kovacs A, Ohlemiller KK, Roberts M, Sands MS.

J Biol Chem. 2009 Oct 23;284(43):29684-91. doi: 10.1074/jbc.M109.020818. Epub 2009 Aug 21.


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