Browsing by Author "DiFiglia, Marian"

Now showing items 1-8 of 8

    • Autophagy Activation by Transcription Factor EB (TFEB) in Striatum of HDQ175/Q7 Mice 

      Vodicka, Petr; Chase, Kathryn; Iuliano, Maria; Tousley, Adelaide; Valentine, Dana T.; Sapp, Ellen; Kegel-Gleason, Kimberly B.; Sena-Esteves, Miguel; Aronin, Neil; DiFiglia, Marian (IOS Press, 2016)
      Background: Mutant huntingtin (mHTT) is encoded by the Huntington’s disease (HD) gene and its accumulation in the brain contributes to HD pathogenesis. Reducing mHTT levels through activation of the autophagosome-lysosomal ...

    • Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV 

      Grishchuk, Yulia; Sri, Sarmi; Rudinskiy, Nikita; Ma, Weiyuan; Stember, Katherine G; Cottle, Matthew W; Sapp, Ellen; Difiglia, Marian; Muzikansky, Alona; Betensky, Rebecca A; Wong, Andrew M S; Bacskai, Brian J; Hyman, Bradley T; Kelleher, Raymond J; Cooper, Jonathan D; Slaugenhaupt, Susan A (BioMed Central, 2014)
      Mucolipidosis IV (MLIV) is caused by mutations in the gene MCOLN1. Patients with MLIV have severe neurologic deficits and very little is known about the brain pathology in this lysosomal disease. Using an accurate mouse ...

    • Glucose transporter 3 is a rab11-dependent trafficking cargo and its transport to the cell surface is reduced in neurons of CAG140 Huntington’s disease mice 

      McClory, Hollis; Williams, Dana; Sapp, Ellen; Gatune, Leah W; Wang, Ping; DiFiglia, Marian; Li, Xueyi (BioMed Central, 2014)
      Huntington’s disease (HD) disturbs glucose metabolism in the brain by poorly understood mechanisms. HD neurons have defective glucose uptake, which is attenuated upon enhancing rab11 activity. Rab11 regulates numerous ...

    • The mTOR Kinase Inhibitor Everolimus Decreases S6 Kinase Phosphorylation But Fails to Reduce Mutant Huntingtin Levels in Brain and is not Neuroprotective in the R6/2 Mouse Model of Huntington's Disease 

      Fox, Jonathan H; Connor, Teal; Dorsey, Kate; Kama, Jibrin A; Bleckmann, Dorothee; Betschart, Claudia; Hoyer, Daniel; Frentzel, Stefan; Paganetti, Paolo; Chopra, Vanita; DiFiglia, Marian; Hersch, Steven M. (BioMed Central, 2010)
      Background: Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG repeat expansion within the huntingtin gene. Mutant huntingtin protein misfolds and accumulates within neurons where it ...

    • Rapamycin prevents the mutant huntingtin-suppressed GLT-1 expression in cultured astrocytes 

      Chen, Lei-lei; Wu, Jun-chao; Wang, Lin-hui; Wang, Jin; Qin, Zheng-hong; Difiglia, Marian; Lin, Fang (Nature Publishing Group, 2012)
      Aim: To investigate the effects of rapamycin on glutamate uptake in cultured rat astrocytes expressing N-terminal 552 residues of mutant huntingtin (Htt-552). Methods: Methods: Primary astrocyte cultures were prepared from ...

    • The regulation of N-terminal Huntingtin (Htt552) accumulation by Beclin1 

      Wu, Jun-chao; Lin, Fang; Qi, Lin; Wang, Yan; Kegel, Kimberly B; Yoder, Jennifer; Difiglia, Marian; Qin, Zheng-hong (Nature Publishing Group, 2012)
      Aim: Huntingtin protein (Htt) was a neuropathological hallmark in human Huntington's Disease. The study aimed to investigate whether the macroautophagy regulator, Beclin1, was involved in the degradation of Htt. Methods: ...

    • The Role of Chaperone-Mediated Autophagy in Huntingtin Degradation 

      Qi, Lin; Lin, Fang; Zhang, Xing-Ding; Wu, Jun-Chao; Wang, Jin; DiFiglia, Marian; Qin, Zheng-Hong (Public Library of Science, 2012)
      Huntington Disease (HD) is caused by an abnormal expansion of polyQ tract in the protein named huntingtin (Htt). HD pathology is featured by accumulation and aggregation of mutant Htt in striatal and cortical neurons. ...

    • SUMO-2 and PIAS1 Modulate Insoluble Mutant Huntingtin Protein Accumulation 

      O’Rourke, Jacqueline Gire; Gareau, Jaclyn R.; Ochaba, Joseph; Song, Wan; Raskó, Tamás; Reverter, David; Lee, John; Monteys, Alex Mas; Pallos, Judit; Mee, Lisa; Vashishtha, Malini; Apostol, Barbara L.; Nicholson, Thomas Peter; Illes, Katalin; Zhu, Ya-Zhen; Dasso, Mary; Bates, Gillian P.; Difiglia, Marian; Davidson, Beverly; Wanker, Erich E.; Marsh, J. Lawrence; Lima, Christopher D.; Steffan, Joan S.; Thompson, Leslie M. (2013)
      SUMMARY A key feature in Huntington disease (HD) is the accumulation of mutant Huntingtin (HTT) protein, which may be regulated by posttranslational modifications. Here, we define the primary sites of SUMO modification in ...