Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease

[1]  Anneliese O. Speak,et al.  Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. , 2014, The Journal of clinical investigation.

[2]  K. Setchell,et al.  Gaucher disease: chemotactic factors and immunological cell invasion in a mouse model. , 2014, Molecular genetics and metabolism.

[3]  N. V. Trung,et al.  Total lactate dehydrogenase in cerebrospinal fluid for identification of bacterial meningitis. , 2013, Journal of medical microbiology.

[4]  G. Melacini,et al.  Mapping the interactions between the Alzheimer's Aβ-peptide and human serum albumin beyond domain resolution. , 2013, Biophysical journal.

[5]  E. Ayuso,et al.  Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. , 2013, The Journal of clinical investigation.

[6]  H. J. Baker,et al.  Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. , 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

[7]  P. Kaplan,et al.  Revised recommendations for the management of Gaucher disease in children , 2013, European Journal of Pediatrics.

[8]  Seng H. Cheng,et al.  Gene Transfer Corrects Acute GM2 Gangliosidosis-Potential Therapeutic Contribution of Perivascular Enzyme Flow. , 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

[9]  V. Ghalaut,et al.  Case series: CSF LDH, proteins and electrolyte levels in patients of acute lymphocytic leukemia. , 2012, Clinica chimica acta; international journal of clinical chemistry.

[10]  D. Tsuji,et al.  Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease , 2011, PloS one.

[11]  F. Eichler,et al.  Natural History of Infantile GM2 Gangliosidosis , 2011, Pediatrics.

[12]  F. Platt,et al.  Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases. , 2011, Cell calcium.

[13]  K. Iserson,et al.  Lactic dehydrogenase in cerebrospinal fluid may differentiate between structural and non-structural central nervous system lesions in patients with diminished levels of consciousness. , 2009, The Journal of emergency medicine.

[14]  H. J. Baker,et al.  Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. , 2009, Molecular genetics and metabolism.

[15]  A. Cressant,et al.  Human alpha-iduronidase gene transfer mediated by adeno-associated virus types 1, 2, and 5 in the brain of nonhuman primates: vector diffusion and biodistribution. , 2009, Human gene therapy.

[16]  L. Massaccesi,et al.  Isoenzyme pattern and partial characterization of hexosaminidases in the membrane and cytosol of human erythrocytes. , 2007, Clinical biochemistry.

[17]  D. Peterson,et al.  Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector. , 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

[18]  T. Arai,et al.  Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis: Possible use for assessment of a therapeutic regimen , 2007, Brain Research.

[19]  B. Hyman,et al.  Adeno-associated virus vectors serotyped with AAV8 capsid are more efficient than AAV-1 or -2 serotypes for widespread gene delivery to the neonatal mouse brain , 2006, Neuroscience.

[20]  J. Chung,et al.  Lysophosphatidic Acid Induces Thrombogenic Activity Through Phosphatidylserine Exposure and Procoagulant Microvesicle Generation in Human Erythrocytes , 2006, Arteriosclerosis, thrombosis, and vascular biology.

[21]  B. Banwell,et al.  The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported , 2006, Pediatrics.

[22]  Seng H. Cheng,et al.  Effective gene therapy in an authentic model of Tay-Sachs-related diseases , 2006, Proceedings of the National Academy of Sciences.

[23]  P. Kaplan,et al.  The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. , 2006, Archives of pediatrics & adolescent medicine.

[24]  M. Haskins,et al.  Large animal models and gene therapy , 2006, European Journal of Human Genetics.

[25]  B. Bembi,et al.  Substrate reduction therapy in the infantile form of Tay-Sachs disease , 2006, Neurology.

[26]  J. Sánchez-Yagüe,et al.  Increase in vulnerability to oxidative damage in cholesterol-modified erythrocytes exposed to t-BuOOH. , 2005, Biochimica et biophysica acta.

[27]  R. Brinton,et al.  Impact of the selective estrogen receptor modulator, tamoxifen, on neuronal outgrowth and survival following toxic insults associated with aging and Alzheimer's disease , 2004, Experimental Neurology.

[28]  R. Dwek,et al.  Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C , 2004, Neurobiology of Disease.

[29]  H. J. Baker,et al.  An inversion of 25 base pairs causes feline GM2 gangliosidosis variant 0 , 2004, Experimental Neurology.

[30]  H. Kretzschmar,et al.  CSF Lactate Dehydrogenase Activity in Patients with Creutzfeldt-Jakob Disease Exceeds That in Other Dementias , 2004, Dementia and Geriatric Cognitive Disorders.

[31]  C. Vite,et al.  Adeno-associated virus vector-mediated transduction in the cat brain , 2003, Gene Therapy.

[32]  F. Platt,et al.  Inhibition of Calcium Uptake via the Sarco/Endoplasmic Reticulum Ca2+-ATPase in a Mouse Model of Sandhoff Disease and Prevention by Treatment with N-Butyldeoxynojirimycin* , 2003, Journal of Biological Chemistry.

[33]  M. Nussinovitch,et al.  Lactic Dehydrogenase Isoenzyme in Cerebrospinal Fluid of Children with Infantile Spasms , 2003, European Neurology.

[34]  R. Mandel,et al.  Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease. , 2003, Molecular therapy : the journal of the American Society of Gene Therapy.

[35]  H. Gupta,et al.  Evaluation of enzymes in serum and cerebrospinal fluid in cases of stroke. , 2002, Neurology India.

[36]  J. Medina,et al.  Albumin promotes neuronal survival by increasing the synthesis and release of glutamate , 2002, Journal of neurochemistry.

[37]  V. Fadok,et al.  Loss of Phospholipid Asymmetry and Surface Exposure of Phosphatidylserine Is Required for Phagocytosis of Apoptotic Cells by Macrophages and Fibroblasts* , 2001, The Journal of Biological Chemistry.

[38]  M. Podell,et al.  The feline model of neuroAIDS: understanding the progression towards AIDS dementia , 2000, Journal of psychopharmacology.

[39]  V. Puri,et al.  Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases , 1999, Nature Cell Biology.

[40]  P. Pattany,et al.  Diffusion-weighted magnetic resonance imaging confirms marked neuroprotective efficacy of albumin therapy in focal cerebral ischemia. , 1998, Stroke.

[41]  K. Arimura,et al.  Histopathological and ultrastructural features of feline hereditary cerebellar cortical atrophy: a novel animal model of human spinocerebellar degeneration , 1998, Acta Neuropathologica.

[42]  R. Busto,et al.  The effect of high-dose albumin therapy on local cerebral perfusion after transient focal cerebral ischemia in rats , 1998, Brain Research.

[43]  M D Ginsberg,et al.  Effect of delayed albumin hemodilution on infarction volume and brain edema after transient middle cerebral artery occlusion in rats. , 1997, Journal of neurosurgery.

[44]  J. Steiss,et al.  Profile of electrodiagnostic abnormalities in cats with GM1 gangliosidosis. , 1997, American journal of veterinary research.

[45]  I. Pastan,et al.  alpha-Galactosidase A deficient mice: a model of Fabry disease. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[46]  S. Higano,et al.  MR findings in Tay-Sachs disease. , 1996, Journal of computer assisted tomography.

[47]  Michael P. McDonald,et al.  Mouse models of Tay–Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism , 1995, Nature Genetics.

[48]  A. Barkovich,et al.  White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities. , 1995, AJNR. American journal of neuroradiology.

[49]  M. Sims Electrodiagnostic evaluation of auditory function. , 1988, The Veterinary clinics of North America. Small animal practice.

[50]  H. J. Baker,et al.  Reduced Ca2+ flux in synaptosomes from cats with GM1 gangliosidosis , 1987, Brain Research.

[51]  J. van der Zee,et al.  Peroxide-induced membrane damage in human erythrocytes. , 1985, Biochimica et biophysica acta.

[52]  G. Pampiglione,et al.  Neurophysiological Investigations in GM1 and GM2 Gangliosidoses , 1984, Neuropediatrics.

[53]  Cork Lc,et al.  The pathology of feline GM2 gangliosidosis. , 1978 .

[54]  H. J. Baker,et al.  GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. , 1977, Science.

[55]  J. Buchwald,et al.  Far-field acoustic response: origins in the cat. , 1975, Science.

[56]  H. J. Baker,et al.  Neuronal GM1 Gangliosidosis in a Siamese Cat with β-Galactosidase Deficiency , 1971, Science.

[57]  M. Pourfar,et al.  Effect of Triton X-100 on electrophoretic mobility of red blood cell ghosts from normal individuals and patients with Tay-Sachs disease. , 1971, Clinical chemistry.

[58]  D L Jewett,et al.  Volume-conducted potentials in response to auditory stimuli as detected by averaging in the cat. , 1970, Electroencephalography and clinical neurophysiology.

[59]  J. Balint,et al.  Studies of red cell stromal proteins in Tay-Sachs disease. , 1968, The Journal of clinical investigation.

[60]  D. Booth Erythrocyte lipids in Tay-Sachs disease. , 1967, Lancet.

[61]  J. Balint,et al.  STUDIES OF RED-CELL STROMAL LIPIDS IN TAY-SACHS DISEASE AND OTHER LIPIDOSES. , 1963, The Journal of clinical investigation.

[62]  A. Tingey,et al.  Tay-Sachs' disease with visceral involvement and its relationship to Niemann-Pick's disease. , 1959, The Journal of pathology and bacteriology.

[63]  S. Aronson,et al.  Progression of amaurotic family idiocy as reflected by serum and cerebrospinal fluid changes. , 1958, The American journal of medicine.

[64]  S. Aronson,et al.  Cerebrospinal Fluid Enzymes in Central Nervous System Lipidoses∗ (with particular reference to Amaurotic Family Idiocy) , 1958, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

[65]  F. Fremont‐Smith,et al.  The cerebrospinal fluid , 1938 .

[66]  J. Jaeken,et al.  NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. , 2013, Human molecular genetics.

[67]  T. Cox Biomarkers in lysosomal storage diseases , 2006 .

[68]  M. Fukumizu,et al.  Tay-Sachs disease: progression of changes on neuroimaging in four cases , 2004, Neuroradiology.

[69]  Kamat Dv,et al.  Comparative values of CSF-LDH isoenzymes in neurological disorders. , 1999 .

[70]  R. Myerowitz Tay‐Sachs disease‐causing mutations and neutral polymorphisms in the Hex A gene , 1997, Human mutation.

[71]  N Hanai,et al.  Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. , 1996, Human molecular genetics.

[72]  E. Osuna,et al.  Efficacy of cerebro-spinal fluid biochemistry in the diagnosis of brain insult. , 1992, Forensic science international.