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Abbreviation : GLD
Long Form : globoid cell leukodystrophy
No. Year Title Co-occurring Abbreviation
2018 AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease). AAV
2016 A microglial hypothesis of globoid cell leukodystrophy pathology. ---
2016 Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease. GALC, qHTS
2016 Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations. GALC, HCT
2016 Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe'sdisease). GALC, NCVs
2016 Endothelial cell dysfunction in globoid cell leukodystrophy. GALC
2016 Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant. GALC, HSCT, sc, ss, vg
2016 Lithium improves cell viability in psychosine-treated MO3.13 human oligodendrocyte cell line via autophagy activation. GALC
2016 Myelin repair by transplantation of myelin-forming cells in globoid cell leukodystrophy. GALC, HSCT
10  2016 Perspective on innovative therapies for globoid cell leukodystrophy. ---
11  2016 Treatment for Krabbe's disease: Finding the combination. GALC
12  2015 Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy. BMT, GALC, IC GT, NSC
13  2015 Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy. GALC, HSPC, LV
14  2015 Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy. GALC
15  2015 Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features. AAVrh10, CNS, GALC, PND10, PNS, twi
16  2015 Mechanism of neuromuscular dysfunction in Krabbe disease. MEPP, NMJ
17  2015 Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy. GALC
18  2015 Transplantation of mouse embryonic stem cell-derived oligodendrocytes in the murine model of globoid cell leukodystrophy. EGFP, ESCs, GALC, MBP, OPCs, RT-PCR
19  2014 Aberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functions. ECM, GALC, TN-C
20  2014 An in vitro model for the study of cellular pathophysiology in globoid cell leukodystrophy. MMP
21  2014 Central nervous system pathology progresses independently of KC and CXCR2 in globoid-cell leukodystrophy. GALC, KC
22  2014 Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease. GALC, LSDs, TWI
23  2014 Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease. CNS, GALC
24  2014 Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death. GALC, ROS
25  2014 Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy. CNS, GALC, GT, LV
26  2013 A high-throughput screening assay using Krabbe disease patient cells. GALC, HTS
27  2013 MMP-3 mediates psychosine-induced globoid cell formation: implications for leukodystrophy pathology. BMT, CNS, GALC, MMP
28  2013 Multipotent stromal cells alleviate inflammation, neuropathology, and symptoms associated with globoid cell leukodystrophy in the twitcher mouse. BMSC, GALC, i.c.v, i.p, MSCs
29  2013 Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture. ent-psy, GALC, PSY
30  2013 Region- and age-dependent alterations of glial-neuronal metabolic interactions correlate with CNS pathology in a mouse model of globoid cell leukodystrophy. CNS, MR
31  2012 Extended normal life after AAVrh10-mediated gene therapy in the mouse model of Krabbe disease. AAV, GALC, HSCT, twi
32  2012 The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development. GALC, NSCs, SVZ
33  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. BMT, GALC
34  2011 CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model. GALC
35  2011 Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophy. twi
36  2010 Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). ---
37  2010 Identification of hematopoietic stem cell-specific miRNAs enables gene therapy of globoid cell leukodystrophy. GALC, HSC
38  2010 Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders. EBs, iPS, LSDs, MPS VII
39  2010 Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. GALC
40  2009 Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy. BMT, GALC
41  2008 Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy. LOGLD
42  2008 Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels. BMT, CNS and PNS, ECM, HSCT
43  2007 Central nervous system-directed AAV2/5-mediated gene therapy synergizes with bone marrow transplantation in the murine model of globoid-cell leukodystrophy. BMT, CNS
44  2007 Effects of irradiation on the postnatal development of the brain in a genetic mouse model of globoid cell leukodystrophy. BMT
45  2007 Increased TNF-alpha production by peripheral blood mononuclear cells in patients with Krabbe's disease: effect of psychosine. IL-8, KD, PBMCs, TNF-alpha
46  2007 Severe graft versus host disease in a patient with globoid cell leukodystrophy following umbilical cord blood transplantation: resemblance to the twitcher mouse model. BMT, GVHD, IL
47  2007 Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy. CNS, GALC, i.c.v
48  2006 Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain. GALC, HA
49  2006 Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non-autonomous disorders: evidence from a mouse model of Krabbe leukodystrophy. GalC, NSCs, twi
50  2006 Molecular basis of globoid cell leukodystrophy in Irish setters. bp, GALC
51  2006 Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). GALC, NMD, PTC
52  2005 AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. GALC
53  2005 AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2. AAV2-GALC, GALC
54  2005 Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation. BMT, GALC, trs
55  2005 Clinicopathological features of globoid cell leucodystrophy in cats. ---
56  2005 Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy. ERT, GALC
57  2005 Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice. GALC, OLs
58  2005 Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. GM1, MLD
59  2005 Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway. GALC, IGF-1, IGF-1R, IR, OLP-II
60  2005 Myelin deterioration in Twitcher mice: motor evoked potentials and magnetic resonance imaging as in vivo monitoring tools. CC, CCT, MEPs, MRI
61  2004 Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. AGU
62  2004 Comparative clinico-pathological study of saposin-A-deficient (SAP-A-/-) and Twitcher mice. ---
63  2004 Genetic background markedly influences vulnerability of the hippocampal neuronal organization in the "twitcher" mouse model of globoid cell leukodystrophy. ---
64  2004 Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation. GALC, OLP-II
65  2003 Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. HCT, IMD, MLD, X-ALD
66  2003 Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. ---
67  2002 Apoptotic positive cells in Krabbe brain and induction of apoptosis in rat C6 glial cells by psychosine. ---
68  2002 Establishment and characterization of spontaneously immortalized Schwann cells from murine model of globoid cell leukodystrophy (twitcher). GALC
69  2002 Globoid cell-like leukodystrophy in a domestic longhaired cat. GALC
70  2002 Immunohistological study of globoid cell leukodystrophy. ISEL
71  2002 Sphingolipids involved in the induction of multinuclear cell formation. PSY
72  2001 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. GALC
73  2001 Identification of a molecular target of psychosine and its role in globoid cell formation. ---
74  2001 Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction. GALC, LAMP2
75  2000 Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast: preliminary results. MTI, MTR, ROI
76  2000 Murine, canine and non-human primate models of Krabbe disease. GALC, HSCT
77  1999 An apoptotic depletion of oligodendrocytes in the twitcher, a murine model of globoid cell leukodystrophy. OLs
78  1999 Globoid cell leukodystrophy in cairn and West Highland white terriers. GALC, WHWT
79  1999 Globoid cell leukodystrophy: distinguishing early-onset from late-onset disease using a brain MR imaging scoring method. ---
80  1999 Responses to cyclic AMP is impaired in the twitcher Schwann cells in vitro. DIV, FBS, GalC, PKC
81  1997 Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene. GALC
82  1997 Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. GALC
83  1997 Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. GALC
84  1996 Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. ---
85  1996 Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells. GALC
86  1995 A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. GALC
87  1995 Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. GALC
88  1995 Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up. ---
89  1995 Murine model of genetic demyelinating disease: the twitcher mouse. ---
90  1995 Proliferative capacity of oligodendrocytes in the demyelinating twitcher spinal cord. BrdU, CA, Pi
91  1994 Absence of MHC class II molecules reduces CNS demyelination, microglial/macrophage infiltration, and twitching in murine globoid cell leukodystrophy. CNS, EAE
92  1994 Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging. MR
93  1994 Spacio-temporal progression of demyelination in twitcher mouse: with clinico-pathological correlation. PAS, PND
94  1993 The blood brain barrier in human leukodystrophies and allied diseases. Ultrastructural and morphometric studies on the capillaries in brain biopsies. ALD, CT, PVS
95  1992 Progressive impairment of Schwann cell proliferation in vitro in murine globoid cell leukodystrophy (twitcher). ---
96  1992 Serial magnetic resonance imaging studies in a case of late onset globoid cell leukodystrophy. CT, MR
97  1990 Biochemical and morphological studies of dorsal root ganglion and its cultured cells from twitcher mouse (murine globoid cell leukodystrophy). DRG
98  1990 Galactosylceramide and galactosylsphingosine loading studies in cultured skin fibroblasts in human and murine globoid cell leukodystrophy. GalCer, GalSph
99  1990 Late-onset globoid cell leukodystrophy. Report on seven new patients. ---
100  1990 MR findings in globoid cell leucodystrophy. ---