Search Results - "MINASSIAN, Berge A"

Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment by Rilstone, Jennifer J, Alkhater, Reem A, Minassian, Berge A

“…Four siblings with gait dystonia and other neurologic deficits were found to have a mutation in SLC18A2, a gene encoding a transporter of serotonin and…”
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Neuronal ceroid lipofuscinoses by Nita, Dragos A., Mole, Sara E., Minassian, Berge A.

“…The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and…”
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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood by Mercimek‐Mahmutoglu, Saadet, Patel, Jaina, Cordeiro, Dawn, Hewson, Stacy, Callen, David, Donner, Elizabeth J., Hahn, Cecil D., Kannu, Peter, Kobayashi, Jeff, Minassian, Berge A., Moharir, Mahendranath, Siriwardena, Komudi, Weiss, Shelly K., Weksberg, Rosanna, Snead, O. Carter

“…Summary Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a…”
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Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism by Wu, Jun, Kakhlon, Or, Weil, Miguel, Lossos, Alexander, Minassian, Berge A

“…In this Correspondence, B. Minassian and colleagues report that GHF201, an autophagy activator shown to diminish abnormal glycogen aggregates in a mouse model…”
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Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan by Sullivan, Mitchell A, Nitschke, Silvia, Steup, Martin, Minassian, Berge A, Nitschke, Felix

“…Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy…”
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Lafora disease in miniature Wirehaired Dachshunds by Swain, Lindsay, Key, Gill, Tauro, Anna, Ahonen, Saija, Wang, Peixiang, Ackerley, Cameron, Minassian, Berge A, Rusbridge, Clare

“…Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The…”
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Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease by Israelian, Lori, Nitschke, Silvia, Wang, Peixiang, Zhao, Xiaochu, Perri, Ami M., Lee, Jennifer P.Y., Verhalen, Brandy, Nitschke, Felix, Minassian, Berge A.

“…Mammalian glycogen chain lengths are subject to complex regulation, including by seven proteins (protein phosphatase‐1 regulatory subunit 3, PPP1R3A through…”
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Global characterization of copy number variants in epilepsy patients from whole genome sequencing by Monlong, Jean, Girard, Simon L, Meloche, Caroline, Cadieux-Dion, Maxime, Andrade, Danielle M, Lafreniere, Ron G, Gravel, Micheline, Spiegelman, Dan, Dionne-Laporte, Alexandre, Boelman, Cyrus, Hamdan, Fadi F, Michaud, Jacques L, Rouleau, Guy, Minassian, Berge A, Bourque, Guillaume, Cossette, Patrick

“…Epilepsy will affect nearly 3% of people at some point during their lifetime. Previous copy number variants (CNVs) studies of epilepsy have used array-based…”
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Inhibiting glycogen synthesis prevents lafora disease in a mouse model by Pederson, Bartholomew A., Turnbull, Julie, Epp, Jonathan R., Weaver, Staci A., Zhao, Xiaochu, Pencea, Nela, Roach, Peter J., Frankland, Paul W., Ackerley, Cameron A., Minassian, Berge A.

“…Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins…”
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Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy by Mitra, Sharmistha, Chen, Baozhi, Wang, Peixiang, Chown, Erin E, Dear, Mathew, Guisso, Dikran R, Mariam, Ummay, Wu, Jun, Gumusgoz, Emrah, Minassian, Berge A

“…Glycogen is the largest cytosolic macromolecule and is kept in solution through a regular system of short branches allowing hydration. This structure was…”
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Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases by Sullivan, Mitchell A., Nitschke, Silvia, Skwara, Evan P., Wang, Peixiang, Zhao, Xiaochu, Pan, Xiao S., Chown, Erin E., Wang, Travis, Perri, Ami M., Lee, Jennifer P.Y., Vilaplana, Francisco, Minassian, Berge A., Nitschke, Felix

“…Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen…”
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PTG protein depletion rescues malin-deficient Lafora disease in mouse by Turnbull, Julie, Epp, Jonathan R., Goldsmith, Danielle, Zhao, Xiaochu, Pencea, Nela, Wang, Peixiang, Frankland, Paul W., Ackerley, Cameron A., Minassian, Berge A.

“…Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate…”
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Hyperphosphorylation of Glucosyl C6 Carbons and Altered Structure of Glycogen in the Neurodegenerative Epilepsy Lafora Disease by Nitschke, Felix, Wang, Peixiang, Schmieder, Peter, Girard, Jean-Marie, Awrey, Donald E., Wang, Tony, Israelian, Johan, Zhao, XiaoChu, Turnbull, Julie, Heydenreich, Matthias, Kleinpeter, Erich, Steup, Martin, Minassian, Berge A.

“…Laforin or malin deficiency causes Lafora disease, characterized by altered glycogen metabolism and teenage-onset neurodegeneration with intractable and…”
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Transition from glycogen to starch metabolism in Archaeplastida by Cenci, Ugo, Nitschke, Felix, Steup, Martin, Minassian, Berge A., Colleoni, Christophe, Ball, Steven G.

“…•Starch evolved from glycogen in the host cytosol after plastid endosymbiosis.•A chlamydial debranching enzyme was recruited for crystalline polysaccharide…”
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Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism by Kakhlon, Or, Vaknin, Hilla, Mishra, Kumudesh, D’Souza, Jeevitha, Marisat, Monzer, Sprecher, Uri, Wald‐Altman, Shane, Dukhovny, Anna, Raviv, Yuval, Da’adoosh, Benny, Engel, Hamutal, Benhamron, Sandrine, Nitzan, Keren, Sweetat, Sahar, Permyakova, Anna, Mordechai, Anat, Akman, Hasan Orhan, Rosenmann, Hanna, Lossos, Alexander, Tam, Joseph, Minassian, Berge A., Weil, Miguel

“…This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11…”
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The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter by Siintola, Eija, Topcu, Meral, Aula, Nina, Lohi, Hannes, Minassian, Berge A., Paterson, Andrew D., Liu, Xiao-Qing, Wilson, Callum, Lahtinen, Ulla, Anttonen, Anna-Kaisa, Lehesjoki, Anna-Elina

“…The late-infantile–onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal…”
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Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design by Froese, D Sean, Michaeli, Amit, McCorvie, Thomas J, Krojer, Tobias, Sasi, Meitav, Melaev, Esther, Goldblum, Amiram, Zatsepin, Maria, Lossos, Alexander, Álvarez, Rafael, Escribá, Pablo V, Minassian, Berge A, von Delft, Frank, Kakhlon, Or, Yue, Wyatt W

“…Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating α-1,6-glucosidic branches from α-1,4-linked glucose chains,…”
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Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A by Han, Chanshuai, Alkhater, Reem, Froukh, Tawfiq, Minassian, Arakel G., Galati, Melissa, Liu, Rui Han, Fotouhi, Maryam, Sommerfeld, Julia, Alfrook, Ayman J., Marshall, Christian, Walker, Susan, Bauer, Peter, Scherer, Stephen W., Riess, Olaf, Buchert, Rebecca, Minassian, Berge A., McPherson, Peter S.

“…Epileptic encephalopathies are a catastrophic group of epilepsies characterized by refractory seizures and cognitive arrest, often resulting from abnormal…”
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Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease by Nitschke, Felix, Sullivan, Mitchell A, Wang, Peixiang, Zhao, Xiaochu, Chown, Erin E, Perri, Ami M, Israelian, Lori, Juana‐López, Lucia, Bovolenta, Paola, Rodríguez de Córdoba, Santiago, Steup, Martin, Minassian, Berge A

“…Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss‐of‐function mutations in the glycogen phosphatase laforin or the ubiquitin E3…”
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The history of progressive myoclonus epilepsies by Genton, Pierre, Striano, Pasquale, Minassian, Berge A.

“…The history of the progressive myoclonus epilepsies (PMEs) spans more than a century. However, the recent history of PMEs begins with a consensus statement…”
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