Raben N - Search Results

1

AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice.

Meena NK, Randazzo D, Raben N, Puertollano R. Meena NK, et al. Among authors: raben n. JCI Insight. 2023 Aug 22;8(16):e170199. doi: 10.1172/jci.insight.170199. JCI Insight. 2023. PMID: 37463048 Free PMC article.

2

Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, Hoffman EP. Nagaraju K, et al. Among authors: raben n. Am J Pathol. 2008 Mar;172(3):774-85. doi: 10.2353/ajpath.2008.070327. Epub 2008 Feb 14. Am J Pathol. 2008. PMID: 18276788 Free PMC article.

3

Mutations in muscle phosphofructokinase gene.

Raben N, Sherman JB. Raben N, et al. Hum Mutat. 1995;6(1):1-6. doi: 10.1002/humu.1380060102. Hum Mutat. 1995. PMID: 7550225 Review.

4

Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases.

Raben N, Borriello F, Amin J, Horwitz R, Fraser D, Plotz P. Raben N, et al. Nucleic Acids Res. 1992 Mar 11;20(5):1075-81. doi: 10.1093/nar/20.5.1075. Nucleic Acids Res. 1992. PMID: 1549469 Free PMC article.

5

Mutations in the SLC3A1 transporter gene in cystinuria.

Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, Pras M, et al. Pras E, et al. Among authors: raben n. Am J Hum Genet. 1995 Jun;56(6):1297-303. Am J Hum Genet. 1995. PMID: 7539209 Free PMC article.

6

Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase.

Amalfitano A, McVie-Wylie AJ, Hu H, Dawson TL, Raben N, Plotz P, Chen YT. Amalfitano A, et al. Among authors: raben n. Proc Natl Acad Sci U S A. 1999 Aug 3;96(16):8861-6. doi: 10.1073/pnas.96.16.8861. Proc Natl Acad Sci U S A. 1999. PMID: 10430861 Free PMC article.

7

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

Douillard-Guilloux G, Raben N, Takikita S, Ferry A, Vignaud A, Guillet-Deniau I, Favier M, Thurberg BL, Roach PJ, Caillaud C, Richard E. Douillard-Guilloux G, et al. Among authors: raben n. Hum Mol Genet. 2010 Feb 15;19(4):684-96. doi: 10.1093/hmg/ddp535. Epub 2009 Dec 3. Hum Mol Genet. 2010. PMID: 19959526 Free PMC article.

8

A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS.

O'Hanlon TP, Raben N, Miller FW. O'Hanlon TP, et al. Among authors: raben n. Biochem Biophys Res Commun. 1995 May 16;210(2):556-66. doi: 10.1006/bbrc.1995.1696. Biochem Biophys Res Commun. 1995. PMID: 7755634

9

Barbetti F, Raben N, Kadowaki T, Cama A, Accili D, Gabbay KH, Merenich JA, Taylor SI, Roth J. Barbetti F, et al. Among authors: raben n. J Clin Endocrinol Metab. 1990 Jul;71(1):164-9. doi: 10.1210/jcem-71-1-164. J Clin Endocrinol Metab. 1990. PMID: 2196279

10

Novel conformation of histidyl-transfer RNA synthetase in the lung: the target tissue in Jo-1 autoantibody-associated myositis.

Levine SM, Raben N, Xie D, Askin FB, Tuder R, Mullins M, Rosen A, Casciola-Rosen LA. Levine SM, et al. Among authors: raben n. Arthritis Rheum. 2007 Aug;56(8):2729-39. doi: 10.1002/art.22790. Arthritis Rheum. 2007. PMID: 17665459 Free article.

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