Search Results - "CZERMIN, Birgit"

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies by Taylor, Robert W, Pyle, Angela, Griffin, Helen, Blakely, Emma L, Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L, Neeve, Vivienne C, Best, Andrew, Yarham, John W, Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A. M, Vassallo, Grace, Gorman, Grainne S, Ramesh, Venkateswaran, Turnbull, Douglass M, Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F

“…IMPORTANCE: Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain…”
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The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations by Yu-Wai-Man, Patrick, MRCOphth, Griffiths, Philip G., FRCOphth, Burke, Ailbhe, MBBS, Sellar, Peter W., FRCOphth, Clarke, Michael P., FRCOphth, Gnanaraj, Lawrence, FRCOphth, Ah-Kine, Desiree, FRCOphth, Hudson, Gavin, PhD, Czermin, Birgit, PhD, Taylor, Robert W., PhD, Horvath, Rita, PhD, Chinnery, Patrick F., FRCP

“…Purpose Autosomal dominant optic atrophy (DOA) is a major cause of visual impairment in young adults that is characterized by selective retinal ganglion cell…”
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The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene by Reilich, Peter, Horvath, Rita, Krause, Sabine, Schramm, Nicolai, Turnbull, Doug M., Trenell, Michael, Hollingsworth, Kieren G., Gorman, Grainne S., Hans, Volkmar H., Reimann, Jens, MacMillan, Andrée, Turner, Lesley, Schollen, Annette, Witte, Gregor, Czermin, Birgit, Holinski-Feder, Elke, Walter, Maggie C., Schoser, Benedikt, Lochmüller, Hanns

“…Neutral lipid storage disease is caused by mutations in the CGI-58 or the PNPLA2 genes. Lipid storage can be detected in various cell types including blood…”
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Physical and functional association of SU(VAR)3-9 and HDAC1 in Drosophila by Czermin, Birgit, Schotta, Gunnar, Hülsmann, Bastian B, Brehm, Alexander, Becker, Peter B, Reuter, Gunter, Imhof, Axel

“…Modification of histones can have a dramatic impact on chromatin structure and function. Acetylation of lysines within the N‐terminal tail of the histone…”
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Early muscle and brain ultrastructural changes in polymerase gamma 1‐related encephalomyopathy by Nolte, Kay W., Trepels‐Kottek, Sonja, Honnef, Dagmar, Weis, Joachim, Bien, Christian G., van Baalen, Andreas, Ritter, Klaus, Czermin, Birgit, Rudnik‐Schöneborn, Sabine, Wagner, Norbert, Häusler, Martin

“…Mutations affecting the mitochondrial DNA‐polymerase gamma 1 (POLG1) gene have been shown to cause Alpers‐Huttenlocher disease. Ultrastructural data on brain…”
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Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAVal causing MNGIE-like gastrointestinal dysmotility and cachexia by Horváth, Rita, Bender, Andreas, Abicht, Angela, Holinski-Feder, Elke, Czermin, Birgit, Trips, Tobias, Schneiderat, Peter, Lochmüller, Hanns, Klopstock, Thomas

“…While mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is typically associated with mutations in the nuclear gene encoding for thymidine…”
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Drosophila Enhancer of Zeste/ESC Complexes Have a Histone H3 Methyltransferase Activity that Marks Chromosomal Polycomb Sites by Czermin, Birgit, Melfi, Raffaella, McCabe, Donna, Seitz, Volker, Imhof, Axel, Pirrotta, Vincenzo

“…Enhancer of Zeste is a Polycomb Group protein essential for the establishment and maintenance of repression of homeotic and other genes. In the early embryo it…”
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Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3 by Horvath, Rita, Czermin, Birgit, Gulati, Sweena, Demuth, Stephanie, Houge, Gunnar, Pyle, Angela, Dineiger, Christine, Blakely, Emma L, Hassani, Adam, Foley, Charlotte, Brodhun, Michael, Storm, Karin, Kirschner, Janbernd, Gorman, Grainne S, Lochmüller, Hanns, Holinski-Feder, Elke, Taylor, Robert W, Chinnery, Patrick F

“…ObjectiveInherited ataxias are heterogeneous disorders affecting both children and adults. The primary cause can be identified in about half of the patients…”
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Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children by Mayr, Johannes A, Zimmermann, Franz A, Horváth, Rita, Schneider, Hans-Christian, Schoser, Benedikt, Holinski-Feder, Elke, Czermin, Birgit, Freisinger, Peter, Sperl, Wolfgang

“…Highlights ► The mitochondrial phosphate carrier SLC25A3 is expressed in tissue specific isoforms by alternative splicing. ► We identified a novel mutation of…”
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Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency by KEMP, John P, SMITH, Paul M, CZERMIN, Birgit, LOCHMÜLLER, Hanns, MCFARLAND, Robert, CHINNERY, Patrick F, CHRZANOWSKA-LIGHTOWLERS, Zofia M. A, LIGHTOWLERS, Robert N, TAYLOR, Robert W, HORVATH, Rita, PYLE, Angela, NEEVE, Vivienne C. M, TUPPEN, Helen A. L, SCHARA, Ulrike, TALIM, Beril, TOPALOGLU, Haluk, HOLINSKI-FEDER, Elke, ABICHT, Angela

“…Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain…”
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What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? by Neeve, Vivienne C. M., Samuels, David C., Bindoff, Laurence A., van den Bosch, Bianca, Van Goethem, Gert, Smeets, Hubert, Lombès, Anne, Jardel, Claude, Hirano, Michio, DiMauro, Salvatore, De Vries, Maaike, Smeitink, Jan, Smits, Bart W., de Coo, Ireneus F. M., Saft, Carsten, Klopstock, Thomas, Keiling, Bianca-Cortina, Czermin, Birgit, Abicht, Angela, Lochmüller, Hanns, Hudson, Gavin, Gorman, Grainne G., Turnbull, Doug M., Taylor, Robert W., Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita

“…Polymerase-γ (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 different…”
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Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations by Schara, Ulrike, von Kleist-Retzow, Jürgen-Christoph, Lainka, Elke, Gerner, Patrick, Pyle, Angela, Smith, Paul M, Lochmüller, Hanns, Czermin, Birgit, Abicht, Angela, Holinski-Feder, Elke, Horvath, Rita

“…Combined respiratory chain deficiency accounts for about 30% of mitochondrial respiratory chain deficiencies and is frequently associated with mtDNA depletion,…”
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OPA1 MUTATIONS INDUCE mtDNA PROLIFERATION IN LEUKOCYTES OF PATIENTS WITH DOMINANT OPTIC ATROPHY by SITARZ, Kamil S, ALMIND, Gitte J, HORVATH, Rita, CZERMIN, Birgit, GRØNSKOV, Karen, PYLE, Angela, TAYLOR, Robert W, LARSEN, Michael, CHINNERY, Patrick F, YU-WAI-MAN, Patrick

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Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model by Baruffini, Enrico, Horvath, Rita, Dallabona, Cristina, Czermin, Birgit, Lamantea, Eleonora, Bindoff, Laurence, Invernizzi, Federica, Ferrero, Iliana, Zeviani, Massimo, Lodi, Tiziana

“…The yeast Saccharomyces cerevisiae was used to validate the pathogenic significance of eight human mutations in the gene encoding for the mitochondrial DNA…”
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Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2 by Walter, Maggie C., Czermin, Birgit, Muller-Ziermann, Solvig, Bulst, Stefanie, Stewart, Joanna D., Hudson, Gavin, Schneiderat, Peter, Abicht, Angela, Holinski-Feder, Elke, Lochmüller, Hanns, Chinnery, Patrick F., Klopstock, Thomas, Horvath, Rita

“…Polymerase gamma 1 ( POLG ) mutations are a frequent cause of both autosomal dominant and recessive complex neurological phenotypes. In contrast, only a single…”
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Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia by Horváth, Rita, Bender, Andreas, Abicht, Angela, Holinski-Feder, Elke, Czermin, Birgit, Trips, Tobias, Schneiderat, Peter, Lochmüller, Hanns, Klopstock, Thomas

“…While mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is typically associated with mutations in the nuclear gene encoding for thymidine…”
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Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy by Soysal, Aysun, Yüksel, Burcu, Czermin, Birgit, Aydemir, Selcen, Tuğcu, Betül, Aysal, Fikret, Arpaci, Baki

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Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency by Taylor, Robert W., Pyle, Angela, Griffin, Helen, Blakely, Emma L., Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L., Neeve, Vivienne C., Best, Andrew, Yarham, John W., Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A.M., Vassallo, Grace, Gorman, Grainne S., Ramesh, Venkateswaran, Turnbull, Douglass M., Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F.

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Clinical and neuropathological findings in patients with TACO1 mutations by Seeger, Jürgen, Schrank, Bertold, Pyle, Angela, Stucka, Rolf, Lörcher, Ulrich, Müller-Ziermann, Solvig, Abicht, Angela, Czermin, Birgit, Holinski-Feder, Elke, Lochmüller, Hanns, Horvath, Rita

“…Abstract We have recently identified mutations in the translation activator of cytochrome c oxidase 1 ( TACO1 ) gene, leading to cytochrome c oxidase (COX)…”
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Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation by Tuppen, Helen A.L., Fehmi, Janev, Czermin, Birgit, Goffrini, Paola, Meloni, Francesca, Ferrero, Iliana, He, Langping, Blakely, Emma L., McFarland, Robert, Horvath, Rita, Turnbull, Douglass M., Taylor, Robert W.

“…Mutations of the BCS1L gene are a recognised cause of isolated respiratory chain complex III deficiency and underlie several fatal, neonatal mitochondrial…”
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