Below are the most recent publications written about "Lysosomal Storage Diseases" by people in Profiles.
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Nicoli ER, Huebecker M, Han ST, Garcia K, Munasinghe J, Lizak M, Latour Y, Yoon R, Glase B, Tyrlik M, Peiravi M, Springer D, Baker EH, Priestman D, Sidhu R, Kell P, Jiang X, Kolstad J, Kuhn AL, Shazeeb MS, Acosta MT, Proia RL, Platt FM, Tifft CJ. Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients. Mol Genet Metab. 2023 02; 138(2):107508.
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Comeau AM. Paradigm shifts in newborn screening? Genet Med. 2019 03; 21(3):534-535.
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Ortiz-Miranda S, Ji R, Jurczyk A, Aryee KE, Mo S, Fletcher T, Shaffer SA, Greiner DL, Bortell R, Gregg RG, Cheng A, Hennings LJ, Rittenhouse AR. A novel transgenic mouse model of lysosomal storage disorder. Am J Physiol Gastrointest Liver Physiol. 2016 11 01; 311(5):G903-G919.
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Bobst CE, Thomas JJ, Salinas PA, Savickas P, Kaltashov IA. Impact of oxidation on protein therapeutics: conformational dynamics of intact and oxidized acid-?-glucocerebrosidase at near-physiological pH. Protein Sci. 2010 Dec; 19(12):2366-78.
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Sahai I, Marsden D. Newborn screening. Crit Rev Clin Lab Sci. 2009; 46(2):55-82.
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Alexander BL, Ali RR, Alton EW, Bainbridge JW, Braun S, Cheng SH, Flotte TR, Gaspar HB, Grez M, Griesenbach U, Kaplitt MG, Ott MG, Seger R, Simons M, Thrasher AJ, Thrasher AZ, Yl?-Herttuala S. Progress and prospects: gene therapy clinical trials (part 1). Gene Ther. 2007 Oct; 14(20):1439-47.
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Jalanko A, Tenhunen K, McKinney CE, LaMarca ME, Rapola J, Autti T, Joensuu R, Manninen T, Sipil? I, Ikonen S, Riekkinen P, Ginns EI, Peltonen L. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet. 1998 Feb; 7(2):265-72.
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Moullier P, Salvetti A, Bohl D, Danos O, Heard JM. [Gene therapy in lysosomal diseases]. C R Seances Soc Biol Fil. 1996; 190(1):45-51.
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Moullier P, Salvetti A, Bohl D, Danos O, Heard JM. [Gene therapy of lysosomal diseases]. Arch Pediatr. 1996; 3 Suppl 1:65s-68s.
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Salvetti A, Moullier P, Cornet V, Brooks D, Hopwood JJ, Danos O, Heard JM. In vivo delivery of human alpha-L-iduronidase in mice implanted with neo-organs. Hum Gene Ther. 1995 Sep; 6(9):1153-9.