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Select item 12355331.

Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

Yair Anikster, Robert Kleta, Avraham Shaag, William A. Gahl, Orly Elpeleg

Am J Hum Genet. 2001 Dec; 69(6): 1218–1224. Published online 2001 Oct 19. doi: 10.1086/324651

PMCID:: PMC1235533

Abstract Article PDF–249K

Select item 70502822.

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy

Eric D Gaier, Inderneel Sahai, Janey L Wiggs, Brian McGeeney, Jodi Hoffman, Crandall Peeler

Ophthalmic Genet. Author manuscript; available in PMC 2021 Jan 13.

Published in final edited form as: Ophthalmic Genet. 2019 Dec; 40(6): 570–573. Published online 2020 Jan 13. doi: 10.1080/13816810.2019.1711428

PMCID:: PMC7050282

Abstract Article PDF–140K

Select item 51816263.

Disrupted mitochondrial function in the Opa3^L122P mouse model for Costeff Syndrome impairs skeletal integrity

Alice E. Navein, Esther J. Cooke, Jennifer R. Davies, Terence G. Smith, Lois H. M. Wells, Atsushi Ohazama, Christopher Healy, Paul T. Sharpe, Sam L. Evans, Bronwen A. J. Evans, Marcela Votruba, Timothy Wells

Hum Mol Genet. 2016 Jun 15; 25(12): 2404–2416. Published online 2016 Apr 22. doi: 10.1093/hmg/ddw107

PMCID:: PMC5181626

Abstract Article PDF–1.2M

Select item 43428264.

Transcriptome analysis of thermophilic methylotrophic Bacillus methanolicus MGA3 using RNA-sequencing provides detailed insights into its previously uncharted transcriptional landscape

Marta Irla, Armin Neshat, Trygve Brautaset, Christian Rückert, Jörn Kalinowski, Volker F Wendisch

BMC Genomics. 2015; 16(1): 73. Published online 2015 Feb 14. doi: 10.1186/s12864-015-1239-4

PMCID:: PMC4342826

Abstract Article PDF–1.0M

Select item 39879115.

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing

Mol Genet Metab Rep. 2014; 1: 114–123. Published online 2014 Mar 13. doi: 10.1016/j.ymgmr.2014.02.003

PMCID:: PMC3987911

Abstract Article PDF–918K

Select item 28720566.

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

Marjan Huizing, Heidi Dorward, Lien Ly, Enriko Klootwijk, Robert Kleta, Flemming Skovby, Wuhong Pei, Benjamin Feldman, William A. Gahl, Yair Anikster

Mol Genet Metab. Author manuscript; available in PMC 2011 Jun 1.

Published in final edited form as: Mol Genet Metab. 2010 Jun; 100(2): 149–154. Published online 2010 Mar 16. doi: 10.1016/j.ymgme.2010.03.005

PMCID:: PMC2872056

Abstract Article PDF–1.2M

Select item 2022737.

Cloning and Sequence Analysis of the meso-Diaminopimelate Decarboxylase Gene from Bacillus methanolicus MGA3 and Comparison to Other Decarboxylase Genes

Appl Environ Microbiol. 1993 Dec; 59(12): 4377. doi: 10.1128/aem.59.12.4377-4377.1993

Corrects:: Appl Environ Microbiol. 1993 Sep; 59(9): 2927–2937.

PMCID:: PMC202273

Correction PDF–79K

Select item 1823888.

Cloning and sequence analysis of the meso-diaminopimelate decarboxylase gene from Bacillus methanolicus MGA3 and comparison to other decarboxylase genes.

D A Mills, M C Flickinger

Appl Environ Microbiol. 1993 Sep; 59(9): 2927–2937. doi: 10.1128/aem.59.9.2927-2937.1993

Correction in:: Appl Environ Microbiol. 1993 Dec; 59(12): 4377.

PMCID:: PMC182388

Summary Page Browse PDF–2.0M

Select item 86856519.

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

Kun Hu, Malgorzata Zatyka, Dewi Astuti, Nicola Beer, Renuka P Dias, Archana Kulkarni, John Ainsworth, Benjamin Wright, Anna Majander, Patrick Yu-Wai-Man, Denise Williams, Timothy Barrett

J Med Genet. 2022 Jan; 59(1): 65–74. Published online 2021 May 18. doi: 10.1136/jmedgenet-2020-107257

PMCID:: PMC8685651

Abstract Article PDF–2.8M

Select item 812423610.

Developing a Riboswitch-Mediated Regulatory System for Metabolic Flux Control in Thermophilic Bacillus methanolicus

Marta Irla, Sigrid Hakvåg, Trygve Brautaset

Int J Mol Sci. 2021 May; 22(9): 4686. Published online 2021 Apr 28. doi: 10.3390/ijms22094686

PMCID:: PMC8124236

Abstract Article PDF–2.1M

Select item 738964811.

Establishment of a functional system for recombinant production of secreted proteins at 50 °C in the thermophilic Bacillus methanolicus

Marta Irla, Eivind B. Drejer, Trygve Brautaset, Sigrid Hakvåg

Microb Cell Fact. 2020; 19: 151. Published online 2020 Jul 28. doi: 10.1186/s12934-020-01409-x

PMCID:: PMC7389648

Abstract Article PDF–1.2M

Select item 709246712.

Transaldolase in Bacillus methanolicus: biochemical characterization and biological role in ribulose monophosphate cycle

Johannes Pfeifenschneider, Benno Markert, Jessica Stolzenberger, Trygve Brautaset, Volker F. Wendisch

BMC Microbiol. 2020; 20: 63. Published online 2020 Mar 24. doi: 10.1186/s12866-020-01750-6

PMCID:: PMC7092467

Abstract Article PDF–1.0M

Select item 410774713.

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

Tobias Bonifert, Kathrin N. Karle, Felix Tonagel, Marion Batra, Christian Wilhelm, Yvonne Theurer, Caroline Schoenfeld, Torsten Kluba, York Kamenisch, Valerio Carelli, Julia Wolf, Michael A. Gonzalez, Fiorella Speziani, Rebecca Schüle, Stephan Züchner, Ludger Schöls, Bernd Wissinger, Matthis Synofzik

Brain. 2014 Aug; 137(8): 2164–2177. Published online 2014 Jun 25. doi: 10.1093/brain/awu165