Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease

[1]  D. Wenger,et al.  Advances in the Diagnosis and Treatment of Krabbe Disease , 2021, International journal of neonatal screening.

[2]  Yan Liang,et al.  Gene-Based Tests of a Genome-Wide Association Study Dataset Highlight Novel Multiple Sclerosis Risk Genes , 2021, Frontiers in Neuroscience.

[3]  L. Wrabetz,et al.  Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy , 2021, Glia.

[4]  M. Poe,et al.  Long-Term Neurodevelopmental Outcomes of Hematopoietic Stem Cell Transplantation for Late-Infantile Krabbe Disease. , 2020, Blood.

[5]  M. Gelb,et al.  Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction , 2020, Neuron.

[6]  K. Dev,et al.  Fingolimod Rescues Demyelination in a Mouse Model of Krabbe's Disease , 2020, The Journal of Neuroscience.

[7]  M. Gelb,et al.  The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease , 2020, Genetics in Medicine.

[8]  L. Parnetti,et al.  Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson’s Disease , 2020, Journal of clinical medicine.

[9]  N. Cawley,et al.  Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology , 2020, PloS one.

[10]  F. Parveen,et al.  Role of Ceramidases in Sphingolipid Metabolism and Human Diseases , 2019, Cells.

[11]  J. Goverman,et al.  Myelin-specific CD8 T cells exacerbate brain inflammation in CNS autoimmunity. , 2019, The Journal of clinical investigation.

[12]  J. Medin,et al.  Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target , 2019, Proceedings of the National Academy of Sciences.

[13]  M. Poe,et al.  Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease , 2018, Genetics in Medicine.

[14]  E. Remmerswaal,et al.  Tissue-resident memory T cells populate the human brain , 2018, Nature Communications.

[15]  B. Boeve,et al.  Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype , 2018, Acta Neuropathologica.

[16]  B. Nagar,et al.  Structural basis for the activation of acid ceramidase , 2018, Nature Communications.

[17]  Matthew J. Nichols,et al.  Analysis of age-related changes in psychosine metabolism in the human brain , 2018, PloS one.

[18]  M. Noble,et al.  Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury , 2017, Human molecular genetics.

[19]  M. Sormani,et al.  Autologous haematopoietic stem cell transplantation for treatment of multiple sclerosis , 2017, Nature Reviews Neurology.

[20]  Matthew J. Nichols,et al.  Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease , 2016, Journal of neuroscience research.

[21]  G. Potter,et al.  Neuroimmune mechanisms in Krabbe's disease , 2016, Journal of neuroscience research.

[22]  K. Skjødt,et al.  Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants , 2016, Traffic.

[23]  L. Wrabetz,et al.  Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity , 2016, The Journal of Neuroscience.

[24]  Matthew J. Nichols,et al.  Newborn screening for Krabbe disease in New York State: the first eight years’ experience , 2016, Genetics in Medicine.

[25]  D. Wenger,et al.  Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? , 2014, Molecular genetics and metabolism.

[26]  F. Sedel,et al.  Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review , 2013, Journal of Inherited Metabolic Disease.

[27]  R. Carter,et al.  Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. , 2011, Pediatric neurology.

[28]  R. Read,et al.  Insights into Krabbe disease from structures of galactocerebrosidase , 2011, Proceedings of the National Academy of Sciences.

[29]  D. Cooper,et al.  Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease , 2010, Human mutation.

[30]  C. Eckman,et al.  Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones , 2010, The Journal of Neuroscience.

[31]  S. Gabriel,et al.  Risk alleles for multiple sclerosis identified by a genomewide study. , 2007, The New England journal of medicine.

[32]  D. Dickson,et al.  Single‐dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy , 2007, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[33]  S. Narumiya,et al.  Prostaglandin D2-Mediated Microglia/Astrocyte Interaction Enhances Astrogliosis and Demyelination in twitcher , 2006, The Journal of Neuroscience.

[34]  Roland Martin,et al.  Immunology of multiple sclerosis. , 2005, Annual review of immunology.

[35]  H. Fukuyama,et al.  Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients , 1997, Human Genetics.

[36]  J. Gusella,et al.  Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. , 1996, American journal of human genetics.

[37]  K. Inui.  [Krabbe disease, globoid cell leukodystrophy]. , 1995, Ryoikibetsu shokogun shirizu.

[38]  D. Wenger,et al.  Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. , 1995, Human molecular genetics.

[39]  D. Wenger,et al.  A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. , 1995, Human molecular genetics.

[40]  S. Raghavan,et al.  Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease. , 1992, Clinica chimica acta; international journal of clinical chemistry.

[41]  N. Barton,et al.  Late onset globoid cell leukodystrophy. , 1991, Journal of neurology, neurosurgery, and psychiatry.

[42]  H. Igisu,et al.  Progressive accumulation of toxic metabolite in a genetic leukodystrophy. , 1984, Science.

[43]  H. Mckelvey,et al.  An improved method for the identification of patients and carriers of Krabbe's disease. , 1974, Clinica chimica acta; international journal of clinical chemistry.

[44]  H. Moser,et al.  Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis) , 1972, Science.

[45]  K. Suzuki,et al.  Globoid cell leukodystrophy: additional deficiency of psychosine galactosidase. , 1972, Biochemical and biophysical research communications.

[46]  E. Young,et al.  Galactocerebrosidase Deficiency in Globoid Cell Leucodystrophy of Late Onset , 1972, Archives of disease in childhood.

[47]  David S. Wishart,et al.  The Online Metabolic and Molecular Bases of Inherited Disease; Chapter 3.1: Metabolism and Metabolic Disease Resources on the Web, Page 1 , 2007 .

[48]  D. Wenger,et al.  Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications , 1997, Human mutation.

[49]  C. Raine.  The Dale E. McFarlin memorial lecture: The immunology of the multiple sclerosis lesion , 1994, Annals of neurology.

[50]  W. Krivit,et al.  Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. , 1991, Developmental neuroscience.

[51]  J. Månsson,et al.  Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. , 1980, Journal of lipid research.