Search Results - "FOSSALE, Elisa"

Rrs1 Is Involved in Endoplasmic Reticulum Stress Response in Huntington Disease by Carnemolla, Alisia, Fossale, Elisa, Agostoni, Elena, Michelazzi, Silvia, Calligaris, Raffaella, De Maso, Luca, Del Sal, Giannino, MacDonald, Marcy E., Persichetti, Francesca

“…The induction of Rrs1 expression is one of the earliest events detected in a presymptomatic knock-in mouse model of Huntington disease (HD). Rrs1 up-regulation…”
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Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes by Valenza, Marta, Leoni, Valerio, Karasinska, Joanna M, Petricca, Lara, Fan, Jianjia, Carroll, Jeffrey, Pouladi, Mahmoud A, Fossale, Elisa, Nguyen, Huu Phuc, Riess, Olaf, MacDonald, Marcy, Wellington, Cheryl, DiDonato, Stefano, Hayden, Michael, Cattaneo, Elena

“…Brain cholesterol, which is synthesized locally, is a major component of myelin and cell membranes and participates in neuronal functions, such as membrane…”
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Autophagy Is Disrupted in a Knock-in Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Cao, Yi, Espinola, Janice A., Fossale, Elisa, Massey, Ashish C., Cuervo, Ana Maria, MacDonald, Marcy E., Cotman, Susan L.

“…Juvenile neuronal ceroid lipofuscinosis is caused by mutation of a novel, endosomal/lysosomal membrane protein encoded by CLN3. The observation that the…”
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HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism by Seong, Ihn Sik, Ivanova, Elena, Lee, Jong-Min, Choo, Yeun Su, Fossale, Elisa, Anderson, MaryAnne, Gusella, James F., Laramie, Jason M., Myers, Richard H., Lesort, Mathieu, MacDonald, Marcy E.

“…The ‘expanded’ HD CAG repeat that causes Huntington's disease (HD) encodes a polyglutamine tract in huntingtin, which first targets the death of medium-sized…”
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Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death by Conforti, Paola, Camnasio, Stefano, Mutti, Cesare, Valenza, Marta, Thompson, Morgan, Fossale, Elisa, Zeitlin, Scott, MacDonald, Marcy E, Zuccato, Chiara, Cattaneo, Elena

“…Abstract Huntington's disease (HD) is a neurodegenerative disorder that affects muscle coordination and diminishes cognitive abilities. The genetic basis of…”
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Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis by Fossale, Elisa, Wolf, Pavlina, Espinola, Janice A, Lubicz-Nawrocka, Tanya, Teed, Allison M, Gao, Hanlin, Rigamonti, Dorotea, Cattaneo, Elena, MacDonald, Marcy E, Cotman, Susan L

“…JNCL is a recessively inherited, childhood-onset neurodegenerative disease most-commonly caused by a approximately 1 kb CLN3 mutation. The resulting loss of…”
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HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation by Carroll, Jeffrey B, Deik, Amy, Fossale, Elisa, Weston, Rory M, Guide, Jolene R, Arjomand, Jamshid, Kwak, Seung, Clish, Clary B, MacDonald, Marcy E

“…The HTT CAG expansion mutation causes Huntington's Disease and is associated with a wide range of cellular consequences, including altered metabolism. The…”
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Huntingtin's Neuroprotective Activity Occurs via Inhibition of Procaspase-9 Processing by Rigamonti, Dorotea, Sipione, Simonetta, Goffredo, Donato, Zuccato, Chiara, Fossale, Elisa, Cattaneo, Elena

“…Huntington's Disease is an inherited neurodegenerative disease that affects the medium spiny neurons in the striatum. The disease is caused by the expansion of…”
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Widespread Disruption of Repressor Element-1 Silencing Transcription Factor/Neuron-Restrictive Silencer Factor Occupancy at Its Target Genes in Huntington's Disease by Zuccato, Chiara, Belyaev, Nikolai, Conforti, Paola, Ooi, Lezanne, Tartari, Marzia, Papadimou, Evangelia, MacDonald, Marcy, Fossale, Elisa, Zeitlin, Scott, Buckley, Noel, Cattaneo, Elena

“…Huntingtin is a protein that is mutated in Huntington's disease (HD), a dominant inherited neurodegenerative disorder. We previously proposed that, in addition…”
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Hdh.sup.Q111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation by Carroll, Jeffrey B, Deik, Amy, Fossale, Elisa, Weston, Rory M, Guide, Jolene R, Arjomand, Jamshid, Kwak, Seung, Clish, Clary B, MacDonald, Marcy E

“…The HTT CAG expansion mutation causes Huntington's Disease and is associated with a wide range of cellular consequences, including altered metabolism. The…”
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Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice by Gines, Silvia, Seong, Ihn Sik, Fossale, Elisa, Ivanova, Elena, Trettel, Flavia, Gusella, James F., Wheeler, Vanessa C., Persichetti, Francesca, MacDonald, Marcy E.

“…Defects in gene transcription and mitochondrial function have been implicated in the dominant disease process that leads to the loss of striatal neurons in…”
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Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy by Lee, Jong-Min, Galkina, Ekaterina I, Levantovsky, Rachel M, Fossale, Elisa, Anne Anderson, Mary, Gillis, Tammy, Srinidhi Mysore, Jayalakshmi, Coser, Kathryn R, Shioda, Toshi, Zhang, Bin, Furia, Matthew D, Derry, Jonathan, Kohane, Isaac S, Seong, Ihn Sik, Wheeler, Vanessa C, Gusella, James F, MacDonald, Marcy E

“…In Huntington's disease (HD), the size of the expanded HTT CAG repeat mutation is the primary driver of the processes that determine age at onset of motor…”
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Meclizine is neuroprotective in models of Huntington's disease by Gohil, Vishal M, Offner, Nicolas, Walker, James A, Sheth, Sunil A, Fossale, Elisa, Gusella, James F, MacDonald, Marcy E, Neri, Christian, Mootha, Vamsi K

“…Defects in cellular energy metabolism represent an early feature in a variety of human neurodegenerative diseases. Recent studies have shown that targeting…”
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Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis by REIS, Surya A, THOMPSON, Morgan N, MACDONALD, Marcy E, SIK SEONG, Ihn, LEE, Jong-Min, FOSSALE, Elisa, KIM, Hyung-Hwan, LIAO, James K, MOSKOWITZ, Michael A, SHAW, Stanley Y, LINDA DONG, HAGGARTY, Stephen J

“…The expanded CAG repeat that causes striatal cell vulnerability in Huntington's disease (HD) encodes a polyglutamine tract in full-length huntingtin that is…”
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Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice by Lloret, Alejandro, Dragileva, Ella, Teed, Allison, Espinola, Janice, Fossale, Elisa, Gillis, Tammy, Lopez, Edith, Myers, Richard H., MacDonald, Marcy E., Wheeler, Vanessa C.

“…Genetically precise models of Huntington's disease (HD), Hdh CAG knock-in mice, are powerful systems in which phenotypes associated with expanded HD CAG…”
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Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative by Fossale, Elisa, Seong, Ihn Sik, Coser, Kathryn R., Shioda, Toshi, Kohane, Isaac S., Wheeler, Vanessa C., Gusella, James F., MacDonald, Marcy E., Lee, Jong-Min

“…Huntington's disease (HD) involves marked early neurodegeneration in the striatum, whereas the cerebellum is relatively spared despite the ubiquitous…”
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Meclizine is neuroprotective in models of Huntington's disease by GOHIL, Vishal M, OFFNER, Nicolas, WALKER, James A, SHETH, Sunil A, FOSSALE, Elisa, GUSELLA, James F, MACDONALD, Marcy E, NERI, Christian, MOOTHA, Vamsi K

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Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice by Fossale, Elisa, Wheeler, Vanessa C., Vrbanac, Vladimir, Lebel, Lori-Anne, Teed, Allison, Mysore, Jayalakshmi S., Gusella, James F., MacDonald, Marcy E., Persichetti, Francesca

“…The hallmark striatal neurodegeneration of Huntington's disease (HD) is first triggered by a dominant property of the expanded glutamine tract in mutant…”
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Discovery of Bioactive Small-Molecule Inhibitor of Poly ADP-Ribose Polymerase: Implications for Energy-Deficient Cells by Altmann, Stephen M., Muryshev, Andrey, Fossale, Elisa, Maxwell, Michele M., Norflus, Francine N., Fox, Jonathan, Hersch, Steven M., Young, Anne B., MacDonald, Marcy E., Abagyan, Ruben, Kazantsev, Aleksey G.

“…Poly (ADP-ribose) polymerase (PARP1) is a nuclear protein that, when overactivated by oxidative stress-induced DNA damage, ADP ribosylates target proteins…”
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