Search Results - "FAUST, Phyllis L"

Cholesterol biosynthesis and ER stress in peroxisome deficiency by Faust, Phyllis L., Kovacs, Werner J.

“…Cholesterol biosynthesis is a multi-step process involving more than 20 enzymes in several subcellular compartments. The pre-squalene segment of the…”
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Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration by Louis, Elan D., Faust, Phyllis L.

“…Essential tremor (ET) has recently been reconceptualized by many as a degenerative disease of the cerebellum. Until now, though, there has been no attempt to…”
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Essential tremor: the most common form of cerebellar degeneration? by Louis, Elan D, Faust, Phyllis L

“…The degenerative cerebellar ataxias comprise a large and heterogeneous group of neurological diseases whose hallmark clinical feature is ataxia, and which are…”
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Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains by Louis, Elan D., Martuscello, Regina T., Gionco, John T., Hartstone, Whitney G., Musacchio, Jessica B., Portenti, Marisa, McCreary, Morgan, Kuo, Sheng-Han, Vonsattel, Jean-Paul G., Faust, Phyllis L.

“…In recent years, numerous morphologic changes have been identified in the essential tremor (ET) cerebellar cortex, distinguishing ET from control brains. These…”
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Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach by Louis, Elan D., Kerridge, Chloë A., Chatterjee, Debotri, Martuscello, Regina T., Diaz, Daniel Trujillo, Koeppen, Arnulf H., Kuo, Sheng-Han, Vonsattel, Jean-Paul G., Sims, Peter A., Faust, Phyllis L.

“…Several morphological changes, centered in/around Purkinje cells (PCs), have been identified in the cerebellum of essential tremor (ET) patients. These changes…”
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Patterns of TDP‐43 Deposition in Brains with LRRK2 G2019S Mutations by Agin‐Liebes, Julian, Hickman, Richard A., Vonsattel, Jean Paul, Faust, Phyllis L., Flowers, Xena, Utkina Sosunova, Irina, Ntiri, Joel, Mayeux, Richard, Surface, Matthew, Marder, Karen, Fahn, Stanley, Przedborski, Serge, Alcalay, Roy N.

“…Objective To assess for TDP‐43 deposits in brains with and without a LRRK2 G2019S mutation. Background LRRK2 G2019S mutations have been associated with…”
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Hif-2α Promotes Degradation of Mammalian Peroxisomes by Selective Autophagy by Walter, Katharina M., Schönenberger, Miriam J., Trötzmüller, Martin, Horn, Michael, Elsässer, Hans-Peter, Moser, Ann B., Lucas, Miriam S., Schwarz, Tobias, Gerber, Philipp A., Faust, Phyllis L., Moch, Holger, Köfeler, Harald C., Krek, Wilhelm, Kovacs, Werner J.

“…Peroxisomes play a central role in lipid metabolism, and their function depends on molecular oxygen. Low oxygen tension or von Hippel-Lindau (Vhl) tumor…”
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Novel genetic features of human and mouse Purkinje cell differentiation defined by comparative transcriptomics by Buchholz, David E., Carroll, Thomas S., Kocabas, Arif, Zhu, Xiaodong, Behesti, Hourinaz, Faust, Phyllis L., Stalbow, Lauren, Fang, Yin, Hatten, Mary E.

“…Comparative transcriptomics between differentiating human pluripotent stem cells (hPSCs) and developing mouse neurons offers a powerful approach to compare…”
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Neuronophagia and microglial nodules in a SARS-CoV-2 patient with cerebellar hemorrhage by Al-Dalahmah, Osama, Thakur, Kiran T, Nordvig, Anna S, Prust, Morgan L, Roth, William, Lignelli, Angela, Uhlemann, Anne-Catrin, Miller, Emily Happy, Kunnath-Velayudhan, Shajo, Del Portillo, Armando, Liu, Yang, Hargus, Gunnar, Teich, Andrew F, Hickman, Richard A, Tanji, Kurenai, Goldman, James E, Faust, Phyllis L, Canoll, Peter

“…We document the neuropathologic findings of a 73-year old man who died from acute cerebellar hemorrhage in the context of relatively mild SARS-CoV2 infection…”
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Defective cerebellar ryanodine receptor type 1 and endoplasmic reticulum calcium ‘leak’ in tremor pathophysiology by Martuscello, Regina T., Chen, Meng-Ling, Reiken, Steven, Sittenfeld, Leah R., Ruff, David S., Ni, Chun-Lun, Lin, Chih-Chun, Pan, Ming-Kai, Louis, Elan D., Marks, Andrew R., Kuo, Sheng-Han, Faust, Phyllis L.

“…Essential Tremor (ET) is a prevalent neurological disease characterized by an 8–10 Hz action tremor. Molecular mechanisms of ET remain poorly understood…”
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Purkinje cell axonal swellings enhance action potential fidelity and cerebellar function by Lang-Ouellette, Daneck, Gruver, Kim M., Smith-Dijak, Amy, Blot, François G. C., Stewart, Chloe A., de Vanssay de Blavous, Pauline, Li, Connie H., Van Eitrem, Carter, Rosen, Charlotte, Faust, Phyllis L., Schonewille, Martijn, Watt, Alanna J.

“…Axonal plasticity allows neurons to control their output, which critically determines the flow of information in the brain. Axon diameter can be regulated by…”
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Gene expression analysis of the cerebellar cortex in essential tremor by Martuscello, Regina T., Kerridge, Chloë A., Chatterjee, Debotri, Hartstone, Whitney G., Kuo, Sheng-Han, Sims, Peter A., Louis, Elan D., Faust, Phyllis L.

“…•Essential tremor (ET) is one of the most common neurological diseases.•The underlying molecular mechanisms are not clear.•Our goal was to explore the…”
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Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6 by Louis, Elan D., Kuo, Sheng-Han, Tate, William J., Kelly, Geoffrey C., Gutierrez, Jesus, Cortes, Etty P., Vonsattel, Jean-Paul G., Faust, Phyllis L.

“…Essential tremor (ET) is among the most common neurological diseases. Postmortem studies have noted a series of pathological changes in the ET cerebellum…”
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Bile acids: the role of peroxisomes by Ferdinandusse, Sacha, Denis, Simone, Faust, Phyllis L., Wanders, Ronald J.A.

“…It is well established that peroxisomes play a crucial role in de novo bile acid synthesis. Studies in patients with a peroxisomal disorder have been…”
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The distribution and density of Huntingtin inclusions across the Huntington disease neocortex: regional correlations with Huntingtin repeat expansion independent of pathologic grade by Hickman, Richard A, Faust, Phyllis L, Marder, Karen, Yamamoto, Ai, Vonsattel, Jean-Paul

“…Huntington disease is characterized by progressive neurodegeneration, especially of the striatum, and the presence of polyglutamine huntingtin (HTT)…”
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Deep brain stimulation and climbing fiber synaptic pathology in essential tremor by Kuo, Sheng-Han, Lin, Chi-Ying, Wang, Jie, Liou, Jyun-You, Pan, Ming-Kai, Louis, Ravi J., Wu, Wei-Pu, Gutierrez, Jesus, Louis, Elan D., Faust, Phyllis L.

“…Essential tremor (ET) patients have abnormal climbing fiber (CF) synapses in the parallel fiber territory in the cerebellum, and these abnormal CF synapses are…”
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Essential tremor pathology: neurodegeneration and reorganization of neuronal connections by Louis, Elan D., Faust, Phyllis L.

“…Essential tremor (ET) is the most common tremor disorder globally and is characterized by kinetic tremor of the upper limbs, although other clinical features…”
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Pathologically based criteria to distinguish essential tremor from controls: analyses of the human cerebellum by Faust, Phyllis L., McCreary, Morgan, Musacchio, Jessica B., Kuo, Sheng‐Han, Vonsattel, Jean‐Paul G., Louis, Elan D.

“…Objective Essential tremor is among the most prevalent neurological diseases. Diagnosis is based entirely on neurological evaluation. Historically, there were…”
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Intracranial intraaxial cerebral tufted angioma: case report by D'Amico, Randy S, Zanazzi, George, Hargus, Gunnar, Dyster, Timothy, Chan, Shirley, Lignelli-Dipple, Angela, Wang, Tony J C, Faust, Phyllis L, McKhann, Guy M

“…Tufted angioma (TA) is a rare, slow-growing, vascular lesion that commonly presents as a solitary macule, papule, or nodule arising in the soft tissues of the…”
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Functional Peroxisomes Are Essential for Efficient Cholesterol Sensing and Synthesis by Charles, Khanichi N, Shackelford, Janis E, Faust, Phyllis L, Fliesler, Steven J, Stangl, Herbert, Kovacs, Werner J

“…Cholesterol biosynthesis is a multi-step process involving several subcellular compartments, including peroxisomes. Cells adjust their sterol content by both…”
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