Autophagy in skeletal muscle: implications for Pompe disease
Shea, L, Raben, N
Published in International journal of clinical pharmacology and therapeutics (2009)
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Published in International journal of clinical pharmacology and therapeutics (2009)
Journal Article
Advancements in AAV-mediated Gene Therapy for Pompe Disease
Salabarria, S M, Nair, J, Clement, N, Smith, B K, Raben, N, Fuller, D D, Byrne, B J, Corti, M
Published in Journal of neuromuscular diseases (01.01.2020)
Published in Journal of neuromuscular diseases (01.01.2020)
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Journal Article
Biochemical and pharmacological characterization of different recombinant acid α-glucosidase preparations evaluated for the treatment of Pompe disease
McVie-Wylie, A.J., Lee, K.L., Qiu, H., Jin, X., Do, H., Gotschall, R., Thurberg, B.L., Rogers, C., Raben, N., O’Callaghan, M., Canfield, W., Andrews, L., McPherson, J.M., Mattaliano, R.J.
Published in Molecular genetics and metabolism (01.08.2008)
Published in Molecular genetics and metabolism (01.08.2008)
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Journal Article
Enzyme replacement therapy in the mouse model of Pompe disease
Raben, N, Danon, M, Gilbert, A.L, Dwivedi, S, Collins, B, Thurberg, B.L, Mattaliano, R.J, Nagaraju, K, Plotz, P.H
Published in Molecular genetics and metabolism (01.09.2003)
Published in Molecular genetics and metabolism (01.09.2003)
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Journal Article
Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever
Aksentijevich, I, Centola, M, Deng, Zuoming, Sood, R, Balow, JE Jr, Wood, G, Zaks, N, Mansfield, E, Chen, Xiang, Eisenberg, S, Vedula, A, Shafran, N, Raben, N, Pras, E, Pras, M
Published in Cell (22.08.1997)
Published in Cell (22.08.1997)
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Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence
Ralston, E., Swaim, B., Czapiga, M., Hwu, W.-L., Chien, Y.-H., Pittis, M.G., Bembi, B., Schwartz, O., Plotz, P., Raben, N.
Published in Journal of structural biology (01.06.2008)
Published in Journal of structural biology (01.06.2008)
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Journal Article
Systemic Correction of the Muscle Disorder Glycogen Storage Disease Type II after Hepatic Targeting of a Modified Adenovirus Vector Encoding Human Acid α -Glucosidase
Amalfitano, A., McVie-Wylie, A. J., Hu, H., Dawson, T. L., Raben, N., Plotz, P., Chen, Y. T.
Published in Proceedings of the National Academy of Sciences - PNAS (03.08.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (03.08.1999)
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A variety of cytokines and immunologically relevant surface molecules are expressed by normal human skeletal muscle cells under proinflammatory stimuli
NAGARAJU, K, RABEN, N, MERRITT, G, LOEFFLER, L, KIRK, K, PLOTZ, P
Published in Clinical and experimental immunology (01.09.1998)
Published in Clinical and experimental immunology (01.09.1998)
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Conditional tissue-specific expression of the acid α-glucosidase (GAA) gene in the GAA knockout mice : implications for therapy
RABEN, N, LU, N, PLOTZ, P. H, NAGARAJU, K, RIVERA, Y, LEE, A, YAN, B, BYRNE, B, MEIKLE, P. J, UMAPATHYSIVAM, K, HOPWOOD, J. J
Published in Human molecular genetics (15.09.2001)
Published in Human molecular genetics (15.09.2001)
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Journal Article
Surprises of genetic engineering: a possible model of polyglucosan body disease
Raben, N, Danon, M, Lu, N, Lee, E, Shliselfeld, L, Skurat, A V, Roach, P J, Lawrence , Jr, J C, Musumeci, O, Shanske, S, DiMauro, S, Plotz, P
Published in Neurology (26.06.2001)
Published in Neurology (26.06.2001)
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Journal Article
Muscle as a putative producer of acid α-glucosidase for glycogenosis type II gene therapy
Martin-Touaux, E., Puech, J.P., Château, D., Emiliani, C., Kremer, E.J., Raben, N., Tancini, B., Orlacchio, A., Kahn, A., Poenaru, L.
Published in Human molecular genetics (01.07.2002)
Published in Human molecular genetics (01.07.2002)
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Journal Article
A motif in human histidyl-tRNA synthetase which is shared among several aminoacyl-tRNA synthetases is a coiled-coil that is essential for enzymatic activity and contains the major autoantigenic epitope
Raben, N, Nichols, R, Dohlman, J, McPhie, P, Sridhar, V, Hyde, C, Leff, R, Plotz, P
Published in The Journal of biological chemistry (30.09.1994)
Published in The Journal of biological chemistry (30.09.1994)
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Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease
Pauly, D F, Fraites, T J, Toma, C, Bayes, H S, Huie, M L, Hirschhorn, R, Plotz, P H, Raben, N, Kessler, P D, Byrne, B J
Published in Human gene therapy (20.03.2001)
Published in Human gene therapy (20.03.2001)
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Journal Article
The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II
Becker, Jeffrey A., Vlach, John, Raben, Nina, Nagaraju, Kanneboyina, Adams, Elizabeth M., Hermans, Monique M., Reuser, Arnold J.J., Brooks, Susan Sklower, Tifft, Cynthia J., Hirschhorn, Rochelle, Huie, Maryann L., Nicolino, Marc, Plotz, Paul H.
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
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Journal Article
Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
Raben, Nina, Hill, Victoria, Shea, Lauren, Takikita, Shoichi, Baum, Rebecca, Mizushima, Noboru, Ralston, Evelyn, Plotz, Paul
Published in Human molecular genetics (15.12.2008)
Published in Human molecular genetics (15.12.2008)
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