| Title : Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models - Ziolkowska_2025_Sci.Transl.Med_17_eadj1445 |
| Author(s) : Ziolkowska EA , Jansen MJ , Williams LL , Wang SH , Eultgen EM , Takahashi K , Le SQ , Nelvagal HR , Sharma J , Sardiello M , DeBosch BJ , Dickson PI , Anderson JB , Sax SE , Wright CM , Bradley RP , Whiteman IT , Makita T , Grider JR , Sands MS , Heuckeroth RO , Cooper JD |
| Ref : Sci Transl Med , 17 :eadj1445 , 2025 |
| Abstract : |
| PubMedSearch : Ziolkowska_2025_Sci.Transl.Med_17_eadj1445 |
| PubMedID: 39813314 |
| Gene_locus related to this paper: mouse-ppt , human-PPT1 |
| Title : Synergistic effects of treating the spinal cord and brain in CLN1 disease - Shyng_2017_Proc.Natl.Acad.Sci.U.S.A_114_E5920 |
| Author(s) : Shyng C , Nelvagal HR , Dearborn JT , Tyynela J , Schmidt RE , Sands MS , Cooper JD |
| Ref : Proc Natl Acad Sci U S A , 114 :E5920 , 2017 |
| Abstract : |
| PubMedSearch : Shyng_2017_Proc.Natl.Acad.Sci.U.S.A_114_E5920 |
| PubMedID: 28673981 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Behavioral deficits and cholinergic pathway abnormalities in male Sanfilippo B mice - Kan_2016_Behav.Brain.Res_312_265 |
| Author(s) : Kan SH , Le SQ , Bui QD , Benedict B , Cushman J , Sands MS , Dickson PI |
| Ref : Behavioural Brain Research , 312 :265 , 2016 |
| Abstract : |
| PubMedSearch : Kan_2016_Behav.Brain.Res_312_265 |
| PubMedID: 27340089 |
| Title : Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers - Dearborn_2015_Sci.Rep_5_12752 |
| Author(s) : Dearborn JT , Harmon SK , Fowler SC , O'Malley KL , Taylor GT , Sands MS , Wozniak DF |
| Ref : Sci Rep , 5 :12752 , 2015 |
| Abstract : |
| PubMedSearch : Dearborn_2015_Sci.Rep_5_12752 |
| PubMedID: 26238334 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease) - Hawkins-Salsbury_2013_Biochim.Biophys.Acta_1832_1906 |
| Author(s) : Hawkins-Salsbury JA , Cooper JD , Sands MS |
| Ref : Biochimica & Biophysica Acta , 1832 :1906 , 2013 |
| Abstract : |
| PubMedSearch : Hawkins-Salsbury_2013_Biochim.Biophys.Acta_1832_1906 |
| PubMedID: 23747979 |
| Title : Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis - Macauley_2012_Ann.Neurol_71_797 |
| Author(s) : Macauley SL , Roberts MS , Wong AM , McSloy F , Reddy AS , Cooper JD , Sands MS |
| Ref : Annals of Neurology , 71 :797 , 2012 |
| Abstract : |
| PubMedSearch : Macauley_2012_Ann.Neurol_71_797 |
| PubMedID: 22368049 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis - Roberts_2012_J.Inherit.Metab.Dis_35_847 |
| Author(s) : Roberts MS , Macauley SL , Wong AM , Yilmas D , Hohm S , Cooper JD , Sands MS |
| Ref : J Inherit Metab Dis , 35 :847 , 2012 |
| Abstract : |
| PubMedSearch : Roberts_2012_J.Inherit.Metab.Dis_35_847 |
| PubMedID: 22310926 |
| Gene_locus related to this paper: mouse-ppt |
| Title : The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis - Macauley_2011_J.Neurosci_31_15575 |
| Author(s) : Macauley SL , Pekny M , Sands MS |
| Ref : Journal of Neuroscience , 31 :15575 , 2011 |
| Abstract : |
| PubMedSearch : Macauley_2011_J.Neurosci_31_15575 |
| PubMedID: 22031903 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease - Kielar_2009_Hum.Mol.Genet_18_4066 |
| Author(s) : Kielar C , Wishart TM , Palmer A , Dihanich S , Wong AM , Macauley SL , Chan CH , Sands MS , Pearce DA , Cooper JD , Gillingwater TH |
| Ref : Hum Mol Genet , 18 :4066 , 2009 |
| Abstract : |
| PubMedSearch : Kielar_2009_Hum.Mol.Genet_18_4066 |
| PubMedID: 19640925 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse - Macauley_2009_Exp.Neurol_217_124 |
| Author(s) : Macauley SL , Wozniak DF , Kielar C , Tan Y , Cooper JD , Sands MS |
| Ref : Experimental Neurology , 217 :124 , 2009 |
| Abstract : |
| PubMedSearch : Macauley_2009_Exp.Neurol_217_124 |
| PubMedID: 19416667 |
| Gene_locus related to this paper: mouse-ppt |
| Title : A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera - Galvin_2008_Pediatr.Dev.Pathol_11_185 |
| Author(s) : Galvin N , Vogler C , Levy B , Kovacs A , Griffey M , Sands MS |
| Ref : Pediatr Dev Pathol , 11 :185 , 2008 |
| Abstract : |
| PubMedSearch : Galvin_2008_Pediatr.Dev.Pathol_11_185 |
| PubMedID: 17990914 |
| Gene_locus related to this paper: mouse-ppt |
| Title : AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis - Griffey_2005_Mol.Ther_12_413 |
| Author(s) : Griffey M , Macauley SL , Ogilvie JM , Sands MS |
| Ref : Mol Ther , 12 :413 , 2005 |
| Abstract : |
| PubMedSearch : Griffey_2005_Mol.Ther_12_413 |
| PubMedID: 15979943 |
| Gene_locus related to this paper: mouse-ppt |