Search Results - "ALAVI, Marcel V"

Recent advances in, and challenges of, designing OMA1 drug screens by Alavi, Marcel V.

“…The proteases of the mitochondrial inner membrane are challenging yet highly desirable drug targets for complex, multifactorial diseases prevalent mainly in…”
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Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics by Alavi, Marcel V, Fuhrmann, Nico

“…Mitochondrial quality control is fundamental to all neurodegenerative diseases, including the most prominent ones, Alzheimer's Disease and Parkinsonism. It is…”
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Allosteric Inhibition of the IRE1α RNase Preserves Cell Viability and Function during Endoplasmic Reticulum Stress by Ghosh, Rajarshi, Wang, Likun, Wang, Eric S., Perera, B. Gayani K., Igbaria, Aeid, Morita, Shuhei, Prado, Kris, Thamsen, Maike, Caswell, Deborah, Macias, Hector, Weiberth, Kurt F., Gliedt, Micah J., Alavi, Marcel V., Hari, Sanjay B., Mitra, Arinjay K., Bhhatarai, Barun, Schürer, Stephan C., Snapp, Erik L., Gould, Douglas B., German, Michael S., Backes, Bradley J., Maly, Dustin J., Oakes, Scott A., Papa, Feroz R.

“…Depending on endoplasmic reticulum (ER) stress levels, the ER transmembrane multidomain protein IRE1α promotes either adaptation or apoptosis. Unfolded ER…”
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Down-regulation of OPA1 alters mouse mitochondrial morphology, PTP function, and cardiac adaptation to pressure overload by PIQUEREAU, Jerome, CAFFIN, Fanny, BRENNER, Catherine, VENTURA-CLAPIER, Renée, VEKSLER, Vladimir, JOUBERT, Frederic, NOVOTOVA, Marta, PROTA, Alexandre, GARNIER, Anne, MATEO, Philippe, FORTIN, Dominique, HA HUYNH, Le, NICOLAS, Valérie, ALAVI, Marcel V

“…The optic atrophy 1 (OPA1) protein is an essential protein involved in the fusion of the mitochondrial inner membrane. Despite its high level of expression,…”
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Col4a1 mutations cause progressive retinal neovascular defects and retinopathy by Alavi, Marcel V., Mao, Mao, Pawlikowski, Bradley T., Kvezereli, Manana, Duncan, Jacque L., Libby, Richard T., John, Simon W. M., Gould, Douglas B.

“…Mutations in collagen, type IV, alpha 1 (COL4A1), a major component of basement membranes, cause multisystem disorders in humans and mice. In the eye, these…”
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Targeted OMA1 therapies for cancer by Alavi, Marcel V.

“…The mitochondrial inner membrane proteins OMA1 and OPA1 belong to the BAX/BAK1‐dependent apoptotic signaling pathway, which can be regulated by tumor protein…”
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OMA1—An integral membrane protease? by Alavi, Marcel V.

“…OMA1 is a mitochondrial protease. Among its substrates are DELE1, a signaling peptide, which can elicit the integrated stress response, as well as the…”
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Tau phosphorylation and OPA1 proteolysis are unrelated events: Implications for Alzheimer's Disease by Alavi, Marcel V

“…The neuropathological hallmarks of Alzheimer's Disease are plaques and neurofibrillary tangles. Yet, Alzheimer's is a complex disease with many contributing…”
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OMA1 High-Throughput Screen Reveals Protease Activation by Kinase Inhibitors by Alavi, Marcel V

“…Mitochondrial proteases are interesting but challenging drug targets for multifactorial diseases, such as neurodegeneration and cancer. The mitochondrial inner…”
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Aging and Vision by Alavi, Marcel V

“…Aging involves defined genetic, biochemical and cellular pathways that regulate lifespan. These pathways are called longevity pathways and they have relevance…”
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Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis by Ward, Michael E, Chen, Robert, Huang, Hsin-Yi, Ludwig, Connor, Telpoukhovskaia, Maria, Taubes, Ali, Boudin, Helene, Minami, Sakura S, Reichert, Meredith, Albrecht, Philipp, Gelfand, Jeffrey M, Cruz-Herranz, Andres, Cordano, Christian, Alavi, Marcel V, Leslie, Shannon, Seeley, William W, Miller, Bruce L, Bigio, Eileen, Mesulam, Marek-Marsel, Bogyo, Matthew S, Mackenzie, Ian R, Staropoli, John F, Cotman, Susan L, Huang, Eric J, Gan, Li, Green, Ari J

“…Heterozygous mutations in the gene lead to progranulin (PGRN) haploinsufficiency and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older…”
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Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms by Mao, Mao, Alavi, Marcel V, Labelle-Dumais, Cassandre, Gould, Douglas B

“…Basement membranes are highly specialized extracellular matrices. Once considered inert scaffolds, basement membranes are now viewed as dynamic and versatile…”
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Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy by Fuhrmann, Nico, Schimpf, Simone, Kamenisch, York, Leo-Kottler, Beate, Alexander, Christiane, Auburger, Georg, Zrenner, Eberhart, Wissinger, Bernd, Alavi, Marcel V

“…Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies…”
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Electrophysiological and Histologic Assessment of Retinal Ganglion Cell Fate in a Mouse Model for OPA1-Associated Autosomal Dominant Optic Atrophy by Heiduschka, Peter, Schnichels, Sven, Fuhrmann, Nico, Hofmeister, Sabine, Schraermeyer, Ulrich, Wissinger, Bernd, Alavi, Marcel V

“…The main disease features of autosomal dominant optic atrophy (ADOA) are a bilateral reduction of visual acuity, cecocentral scotoma, and frequently…”
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Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice by Mao, Mao, Smith, Richard S, Alavi, Marcel V, Marchant, Jeffrey K, Cosma, Mihai, Libby, Richard T, John, Simon W M, Gould, Douglas B

“…Mutations in the gene encoding collagen type IV alpha 1 (COL4A1) cause multisystem disorders including anterior segment dysgenesis (ASD) and optic nerve…”
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A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy by Alavi, Marcel V., Bette, Stefanie, Schimpf, Simone, Schuettauf, Frank, Schraermeyer, Ulrich, Wehrl, Hans F., Ruttiger, Lukas, Beck, Susanne C., Tonagel, Felix, Pichler, Bernd J., Knipper, Marlies, Peters, Thomas, Laufs, Juergen, Wissinger, Bernd

“…Autosomal dominant optic atrophy (adOA) is a juvenile onset, progressive ocular disorder characterized by bilateral loss of vision, central visual field…”
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Long-term photoreceptor rescue in two rodent models of retinitis pigmentosa by adeno-associated virus delivery of Stanniocalcin-1 by Roddy, Gavin W., Yasumura, Douglas, Matthes, Michael T., Alavi, Marcel V., Boye, Sanford L., Rosa, Robert H., Fautsch, Michael P., Hauswirth, William W., LaVail, Matthew M.

“…Retinal degenerations, including age-related macular degeneration and the retinitis pigmentosa family of diseases, are among the leading causes of legal…”
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In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter Mouse by Alavi, Marcel V, Chiang, Wei-Chieh, Kroeger, Heike, Yasumura, Douglas, Matthes, Michael T, Iwawaki, Takao, LaVail, Matthew M, Gould, Douglas B, Lin, Jonathan H

“…Endoplasmic reticulum (ER) stress activates inositol requiring enzyme 1 (IRE1), a key regulator of the unfolded protein response. The ER stress activated…”
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Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy by Alavi, Marcel V., Fuhrmann, Nico, Nguyen, Huu Phuc, Yu-Wai-Man, Patrick, Heiduschka, Peter, Chinnery, Patrick F., Wissinger, Bernd

“…The ubiquitously expressed gene OPA1 is the main disease causing gene for autosomal dominant optic atrophy (ADOA). These patients present with bilateral…”
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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16 by CARELLI, Valerio, SCHIMPF, Simone, BARBONI, Piero, LONGANESI, Lora, RUGOLO, Michela, GHELLI, Anna, ALAVI, Marcel V, YOULE, Richard J, BUCCHI, Laura, CARROCCIA, Rosanna, PIA GIANNOCCARO, Maria, TONON, Caterina, FUHRMANN, Nico, LODI, Raffaele, CENACCHI, Giovanna, MONTAGNA, Pasquale, LIGUORI, Rocco, WISSINGER, Bernd, VALENTINO, Maria Lucia, ZANNA, Claudia, LOMMARINI, Luisa, PAPKE, Monika, SCHAICH, Simone, TIPPMANN, Sabine, BAUMANN, Britta

“…Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3 genes, both encoding for…”
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