Search Results - "Almashanu, S"

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency by Baumgartner, M R, Almashanu, S, Suormala, T, Obie, C, Cole, R N, Packman, S, Baumgartner, E R, Valle, D

“…Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism that appears to be the…”
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Characterization of Two Mutations Associated with Epimerase-Deficiency Galactosemia, by Use of a Yeast Expression System for Human UDP-Galactose-4-Epimerase by Quimby, B.B., Alano, A., Almashanu, S., DeSandro, A.M., Cowan, T.M., Fridovich-Keil, J.L.

“…UDP-galactose-4-epimerase (GALE) is a highly conserved enzyme that catalyzes the interconversion of UDP-galac-tose and UDP-glucose. Impairment of this enzyme…”
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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by Loeber, J Gerard, Platis, Dimitris, Zetterström, Rolf H, Almashanu, Shlomo, Boemer, François, Bonham, James R, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O'Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D, Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C J I

“…Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then…”
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Molecular characterization of a unique patient with epimerase‐deficiency galactosaemia by Alano, A., Almashanu, S., Chinsky, J. M., Costeas, P., Blitzer, M. G., Wulfsberg, E. A., Cowan, T. M.

“…Inherited deficiencies of UDP‐galactose 4‐epimerase (GALE) havebeen associated with two distinct phenotypes. The vast majority of North American patients are…”
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Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus by Reissner, K., Tayebi, N., Stubblefield, B.K., Koprivica, V., Blitzer, M., Holleran, W., Cowan, T., Almashanu, S., Maddalena, A., Karson, E.M., Sidransky, E.

“…Gaucher disease, the deficiency of the lysosomal enzyme glucocerebrosidase (EC 3.2.1.45), is frequently encountered in the Ashkenazi Jewish population. Carrier…”
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A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online by Chinsky, J, Appel, M, Almashanu, S, Costeas, P, Ambulos, Jr, N, Carmi, R

“…Mutation analysis of DNA from cultured amniocytes with absent branched-chain alpha-ketoacid dehydrogenase activity revealed a C to T transition producing a…”
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Interspecific luciferase β subunit hybrids between Vibrio harveyi, Vibrio fischeri and Photobacterium leiognathi by Almashanu, S., Gendler, I., Hadar, R., Kuhn, J.

“…Bacterial luciferase (EC 1.14.143) is a heterodimer composed of α and β-chains encoded by luxA and luxB, respectively. Although some interspecific combinations…”
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Functional Consequences of PRODH Missense Mutations by Bender, Hans-Ulrich, Almashanu, Shlomo, Steel, Gary, Hu, Chien-An, Lin, Wei-Wen, Willis, Alecia, Pulver, Ann, Valle, David

“…PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial…”
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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase by Baumgartner, M R, Hu, C A, Almashanu, S, Steel, G, Obie, C, Aral, B, Rabier, D, Kamoun, P, Saudubray, J M, Valle, D

“…delta(1)-pyrroline-5-carboxylate synthase (P5CS), a bifunctional ATP- and NADPH-dependent mitochondrial enzyme, catalyzes the reduction of glutamate to…”
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Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter by Camacho, Jose A, Casey, Robin, Biery, Barbara, Almashanu, Shlomo, Obie, Cassandra, Goodman, Barbara K, Valle, David, Mitchell, Grant A, Hu, Chien-An, Lambert, Marie, Steel, Gary

“…Neurospora crassa ARG13 and Saccharomyces cerevisiae ARG11 encode mitochondrial carrier family (MCF) proteins that transport ornithine across the mitochondrial…”
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Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy by Baumgartner, Matthias R., Dantas, M.Fernanda, Suormala, Terttu, Almashanu, Shlomo, Giunta, Cecilia, Friebel, Dolores, Gebhardt, Boris, Fowler, Brian, Hoffmann, Georg F., Baumgartner, E.Regula, Valle, David

“…Deficiency of 3-methylcrotonyl-CoA carboxylase (MCC) results in elevated excretion of 3-methylcrotonylglycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA)…”
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Formation of active bacterial luciferase between interspecific subunits in vivo by Almashanu, S, Tuby, A, Hadar, R, Einy, R, Kuhn, J

“…Interspecific complementation between luxAs and luxBs from Vibrio harveyi, Vibrio fischeri, Photobacterium leiognathi and Xenorhabdus luminescens was examined…”
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Fusion of LuxA and LuxB and its expression in E. coli, S. cerevisiae and D. melanogaster by Almashanu, S, Musafia, B, Hadar, R, Suissa, M, Kuhn, J

“…Luciferase from Vibrio harveyi is encoded by two adjacent genes, luxA and luxB. The two genes were fused by replacing a segment extending from near the end of…”
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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta super(1)-pyrroline-5-carboxylate synthase by Baumgartner, M R, Hu, Chien-an A, Almashanu, S, Steel, G, Obie, C, Aral, B, Rabier, D, Kamoun, P, Saudubray, J-M, Valle, D

“…Delta super(1)-pyrroline-5-carboxylate synthase (P5CS), a bifunctional ATP- and NADPH-dependent mitochondrial enzyme, catalyzes the reduction of glutamate to…”
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Hyperornithinaemia-hyperammonaelina-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter by CAMACHO, J. A, OBIE, C, VALLE, D, BIERY, B, GOODMAN, B. K, HU, C.-A, ALMASHANU, S, STEEL, G, CASEY, R, LAMBERT, M, MITCHELL, G. A

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A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease by Chinsky, Jeffrey, Appel, Melissa, Almashanu, Shlomo, Costeas, Paul, Ambulos Jr, Nicholas, Carmi, Rivka

“…Mutation analysis of DNA from cultured amniocytes with absent branched‐chain α‐ketoacid dehydrogenase activity revealed a C to T transition producing a…”
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