Search Results - "ARONOVICH, E. .L"

The Sleeping Beauty transposon system: a non-viral vector for gene therapy: Gene Therapy by ARONOVICH, Elena L, MCIVOR, R. Scott, HACKETT, Perry B

“…Over the past decade, the Sleeping Beauty (SB) transposon system has been developed as the leading non-viral vector for gene therapy. This vector combines the…”
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Molecular genetic defect underlying α-L-iduronidase pseudodeficiency by ARONOVICH, E. .L, DAO PAN, WHITLEY, C. B

“…Mucopolysaccharidosis type I (i.e., Hurler, Hurler-Scheie, and Scheie syndromes) and type II (i.e., Hunter syndrome) are lysosomal storage disorders resulting…”
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Genotype-Phenotype Correspondence in Sanfilippo Syndrome Type B by Zhao, Hong G., Aronovich, Elena L., Whitley, Chester B.

“…Sanfilippo syndrome type B, or mucopolysaccharidosis type IIIB, results from defects in the gene for α-N-acetylglucosaminidase (NAGLU); only a few mutations…”
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Metabolic Correction and Cross-Correction of Mucopolysaccharidosis Type II (Hunter Syndrome) by Retroviral-Mediated Gene Transfer and Expression of Human Iduronate-2-Sulfatase by Braun, Stephen E., Aronovich, Elena L., Anderson, Rose Ann, Crotty, Paul L., McIvor, R. Scott, Whitley, Chester B.

“…To explore the possibility of using gene transfer to provide iduronate-2-sulfatase (IDS; EC 3.1.6.13) enzyme activity for treatment of Hunter syndrome, an…”
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Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation : toward mutation mapping of the iduronate-2-sulfatase gene by JONSSON, J. J, ARONOVICH, E. L, BRAUN, S. E, WHITLEY, C. B

“…Virtually all mutations causing Hunter syndrome (mucopolysaccharidosis type II) are expected to be new mutations. Therefore, as a means of molecular diagnosis,…”
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Diagnosis and prevention of lysosomal storage diseases in Russia by Krasnopolskaya, K. D., Mirenburg, T. V., Aronovich, E. L., Lebedeva, T. V., Odinokova, O. N., Demina, N. A., Kozlova, V. M., Kuznetsov, M. I.

“…Summary A special programme for the diagnosis and prevention of lysosomal storage diseases (LSD) was developed in the former USSR. All the patients from 814…”
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Molecular Basis of Mucopolysaccharidosis Type IIIB in Emu (Dromaius novaehollandiae): An Avian Model of Sanfilippo Syndrome Type B by Aronovich, Elena L., Johnston, Jade M., Wang, Ping, Giger, Urs, Whitley, Chester B.

“…Sanfilippo syndrome type B, or mucopolysaccharidosis (MPS) IIIB, is an autosomal recessive disease caused by a deficiency of lysosomal…”
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Canine Heparan Sulfate Sulfamidase and the Molecular Pathology Underlying Sanfilippo Syndrome Type A in Dachshunds by Aronovich, Elena L., Carmichael, K.Paige, Morizono, Hiroki, Koutlas, Ioannis G., Deanching, Minerva, Hoganson, George, Fischer, Andrea, Whitley, Chester B.

“…Heparan sulfate sulfamidase (HSS) is a lysosomal exohydrolase that, when deficient, results in intralysosomal accumulation of heparan sulfate and the clinical…”
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Preclinical studies of lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II) by Braun, S E, Pan, D, Aronovich, E L, Jonsson, J J, McIvor, R S, Whitley, C B

“…To explore the feasibility of ex vivo lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II), we evaluated retrovirus-mediated gene…”
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Retroviral-mediated transfer of the iduronate-2-sulfatase gene into lymphocytes for treatment of mild Hunter syndrome (mucopolysaccharidosis type II) by Whitley, C B, McIvor, R S, Aronovich, E L, Berry, S A, Blazar, B R, Burger, S R, Kersey, J H, King, R A, Faras, A J, Latchaw, R E, McCullough, J, Pan, D, Ramsay, N K, Stroncek, D F

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Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene by Whitley, C B, Anderson, R A, Aronovich, E L, Crotty, P L, Anyane-Yeboa, K, Russo, D, Warburton, D

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Excision of Sleeping Beauty transposons: parameters and applications to gene therapy by Liu, Geyi, Aronovich, Elena L., Cui, Zongbin, Whitley, Chester B., Hackett, Perry B.

“…A major problem in gene therapy is the determination of the rates at which gene transfer has occurred. Our work has focused on applications of the Sleeping…”
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Prenatal diagnosis of hereditary lysosomal diseases by Mirenburg, T V, Aronovich, E L, Lebedeva, T V, Akhunov, V S, Krasnopol'skaia, K D

“…Prenatal diagnosis was carried out in 10 families suffering from lysosomal diseases: Tay-Sachs disease--5 families, Sandhoff disease--1 family,…”
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Isolation and characteristics of hexosaminidase A and activator protein from human kidney by Aronovich, E L, Akhunov, V S, Krasnopol'skaia, K D

“…Hexosaminidase A (HA) was isolated from human kidney and purified to an electrophoretically homogeneous state. The purification procedure included ion-exchange…”
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Study of the genetic heterogeneity of gangliosidoses in humans by Akhunov, V S, Aronovich, E L, Krasnopol'skaia, K D, Mirenburg, T V

“…A study of genetic heterogeneity of GM1 and GM2 gangliosidoses was performed using a wide set of cultured fibroblast lines of patients with leukodystrophies…”
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Detection of homozygotes and heterozygote carriers of GM2-gangliosidosis by Aronovich, E L, Krasnopol'skaia, K D, Kukharenko, V I, Pichugina, E M

“…11 patients with Tay-Sachs disease (TSD) and 4 patients with Sandhoff disease were identified using the methods of heat inactivation of hexosaminidase at 50…”
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A program of prevention of hereditary lysosomal diseases in the USSR by Krasnopol'skaia, K D, Mirenburg, T V, Aronovich, E L, Lebedeva, T V, Akhunov, V S, Odinokova, O N, Chebysheva, M V, Demina, N A, Nikiforova, O K, Kuznetsov, M I

“…The organization of genetic counselling for the families of patients with lysosomal storage diseases (LSD) was based on the interaction of the genetic…”
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Diagnosis and prevention of lysosomal storage diseases in Russia by KRASNOPOLSKAYA, K. D, MIRENBURG, T. V, ARONOVICH, E. L, LEBEDEVA, T. V, ODINOKOVA, O. N, DEMINA, N. A, KOZLOVA, V. M, KUZNETSOV, M. I

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Prenatal diagnosis of lysosomal storage disease in the USSR by Mirenburg, T V, Aronovich, E L, Krasnopol'skaia, K D, Lebedeva, T V, Akhunov, V S, Biriukov, V B, Bakharev, V A, Bartseva, O B

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Use of lysosome enzymes in genetic counseling by Krasnopol'skaia, K D, Aronovich, E L, Terekhov, S M

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