Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease
暂无分享,去创建一个
H. J. Baker | Douglas R Martin | F. Platt | M. Sena-Esteves | A. Bradbury | M. Jeyakumar | A. Colaco | Ashley N. Randle | Victoria J. McCurdy | Diane U. Wilson | Douglas R. Martin | J. Hudson | A. Johnson | Jamie L. Shirley | H. Gray-Edwards | D. Sorjonen | N. Cox | A. C. Bird | B. L. Brunson | A. Randle | P. Christopherson | V. McCurdy | Nicholas L. De Pompa | Alexandria Colaco | Brandon L. Brunson | A. Bird
[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.