Browsing by Author "Sandberg, Michael"

Now showing items 1-4 of 4

    • AAV-Mediated Gene Delivery in Adult GM1-Gangliosidosis Mice Corrects Lysosomal Storage in CNS and Improves Survival 

      Baek, Rena C.; Broekman, Marike L. D.; Leroy, Stanley G.; Tierney, Laryssa A.; Sandberg, Michael Arthur; d'Azzo, Alessandra; Seyfried, Thomas N.; Sena-Esteves, Miguel (Public Library of Science, 2010)
      Background: GM1-gangliosidosis is a glycosphingolipid (GSL) lysosomal storage disease caused by a genetic deficiency of acid β-galactosidase (βgal), which results in the accumulation of GM1-ganglioside and its asialo-form ...

    • Evidence for Baseline Retinal Pigment Epithelium Pathology in the Trp1-Cre Mouse 

      Thanos, Aristomenis; Morizane, Yuki; Murakami, Yusuke; Giani, Andrea; Mantopoulos, Dimosthenis; Kayama, Maki; Roh, Mi In; Michaud, Norman; Pawlyk, Basil; Sandberg, Michael Arthur; Young, Lucy Hwa-Yue; Miller, Joan Whitten; Vavvas, Demetrios (Elsevier BV, 2012)
      The increasing popularity of the Cre/loxP recombination system has led to the generation of numerous transgenic mouse lines in which Cre recombinase is expressed under the control of organ- or cell-specific promoters. ...

    • Photoreceptor Rescue by an Abbreviated Human RPGR Gene in a Murine Model of X-linked Retinitis Pigmentosa 

      Pawlyk, Basil S.; Adamian, Michael; Sun, Xun; Bulgakov, Oleg V.; Shu, Xinhua; Smith, Alexander J.; Berson, Eliot L.; Ali, Robin R.; Khani, Shahrokh; F.Wright, Alan; Sandberg, Michael A.; Li, Tiansen (2015)
      The X-linked RP3 gene codes for the ciliary protein RPGR and accounts for over 10% of inherited retinal degenerations. The critical RPGR-ORF15 splice variant contains a highly repetitive purine-rich linker region that ...

    • Search for a Correlation between Telomere Length and Severity of Retinitis Pigmentosa due to the Dominant Rhodopsin Pro23His Mutation 

      Hartong, Dyonne T.; McGee, Terri L.; Sandberg, Michael Arthur; Berson, Eliot Lawrence; Asselbergs, Folkert W.; van der Harst, Pim; De Vivo, Immaculata; Dryja, Thaddeus Peter (Molecular Vision, 2009)
      Purpose: Great variation exists in the age of onset of symptoms and the severity of disease at a given age in patients with retinitis pigmentosa (RP). The final pathway for this disease may involve apoptotic photoreceptor ...