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Items: 13

1.
A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone
Sihui Chen, Xiaohui Lai, Jiajia Fu, Jing Yang, Bi Zhao, Huifang Shang, Rui Huang, Xueping Chen
BMC Neurol. 2023; 23: 134. Published online 2023 Mar 31. doi: 10.1186/s12883-023-03172-z
PMCID:
PMC10064749
AbstractArticlePDF–1.3M
2.
C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration
Changjuan Shao, Julia Zhu, Xiaopin Ma, Sandra L. Siedlak, Mark L. Cohen, Alan Lerner, Wenzhang Wang
Free Radic Biol Med. Author manuscript; available in PMC 2023 Mar 1.
Published in final edited form as: Free Radic Biol Med. 2022 Mar; 182: 23–33. Published online 2022 Feb 17. doi: 10.1016/j.freeradbiomed.2022.02.006
PMCID:
PMC8957567
AbstractArticlePDF–2.4M
3.
Neurodegeneration with brain iron accumulation
SUSAN J. HAYFLICK, MANJU A. KURIAN, PENELOPE HOGARTH
Handb Clin Neurol. Author manuscript; available in PMC 2021 Jun 26.
Published in final edited form as: Handb Clin Neurol. 2018; 147: 293–305. doi: 10.1016/B978-0-444-63233-3.00019-1
PMCID:
PMC8235601
AbstractArticlePDF–695K
4.
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+
Paola Venco, Massimo Bonora, Carlotta Giorgi, Elena Papaleo, Arcangela Iuso, Holger Prokisch, Paolo Pinton, Valeria Tiranti
Front Genet. 2015; 6: 185. Published online 2015 May 19. doi: 10.3389/fgene.2015.00185
PMCID:
PMC4470416
AbstractArticlePDF–1.5M
5.
Impairment of Drosophila Orthologs of the Human Orphan Protein C19orf12 Induces Bang Sensitivity and Neurodegeneration
Arcangela Iuso, Ody C. M. Sibon, Matteo Gorza, Katharina Heim, Cristina Organisti, Thomas Meitinger, Holger Prokisch
PLoS One. 2014; 9(2): e89439. Published online 2014 Feb 21. doi: 10.1371/journal.pone.0089439
PMCID:
PMC3931782
AbstractArticlePDF–1.2M
6.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12
Guida Landouré, Peng-Peng Zhu, Charles M. Lourenço, Janel O. Johnson, Camilo Toro, Katherine V. Bricceno, Carlo Rinaldi, Katherine G. Meilleur, Modibo Sangaré, Oumarou Diallo, Tyler M. Pierson, Hiroyuki Ishiura, Shoji Tsuji, Nichole Hein, John K. Fink, Marion Stoll, Garth Nicholson, Michael Gonzalez, Fiorella Speziani, Alexandra Dürr, Giovanni Stevanin, Leslie G. Biesecker, for the NIH Intramural Sequencing Center, John Accardi, Dennis M. D. Landis, William A. Gahl, Bryan J. Traynor, Wilson Marques, Jr, Stephan Züchner, Craig Blackstone, Kenneth H. Fischbeck, Barrington G. Burnett
Hum Mutat. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: Hum Mutat. 2013 Oct; 34(10): 10.1002/humu.22378. Published online 2013 Aug 12. doi: 10.1002/humu.22378
PMCID:
PMC3819934
AbstractArticlePDF–396K
7.
New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN
Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry-Kravis, Nicola C. Foulds, Simon R. Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay Reese, Randall L. Woltjer, Susan J. Hayflick
Neurology. 2013 Jan 15; 80(3): 268–275. doi: 10.1212/WNL.0b013e31827e07be
PMCID:
PMC3589182
AbstractArticlePDF–1.3M
8.
Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826
AbstractArticlePDF–5.7M
9.
Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
Monika B. Hartig, Arcangela Iuso, Tobias Haack, Tomasz Kmiec, Elzbieta Jurkiewicz, Katharina Heim, Sigrun Roeber, Victoria Tarabin, Sabrina Dusi, Malgorzata Krajewska-Walasek, Sergiusz Jozwiak, Maja Hempel, Juliane Winkelmann, Matthias Elstner, Konrad Oexle, Thomas Klopstock, Wolfgang Mueller-Felber, Thomas Gasser, Claudia Trenkwalder, Valeria Tiranti, Hans Kretzschmar, Gerd Schmitz, Tim M. Strom, Thomas Meitinger, Holger Prokisch
Am J Hum Genet. 2011 Oct 7; 89(4): 543–550. doi: 10.1016/j.ajhg.2011.09.007
PMCID:
PMC3188837
AbstractArticlePDF–899K
10.
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
K.G. Meilleur, M. Traoré, M. Sangaré, A. Britton, G. Landouré, S. Coulibaly, B. Niaré, F. Mochel, A. La Pean, I. Rafferty, C. Watts, M. T. Littleton-Kearney, C. Blackstone, A. Singleton, K.H. Fischbeck
Neurogenetics. Author manuscript; available in PMC 2010 Jul 1.
Published in final edited form as: Neurogenetics. 2010 Jul; 11(3): 313–318. Published online 2009 Dec 29. doi: 10.1007/s10048-009-0230-0
PMCID:
PMC2891134
AbstractArticlePDF–1.4M
11.
Expanding the Substantial Interactome of NEMO Using Protein Microarrays
Beau J. Fenner, Michael Scannell, Jochen H. M. Prehn
PLoS One. 2010; 5(1): e8799. Published online 2010 Jan 20. doi: 10.1371/journal.pone.0008799
PMCID:
PMC2808332
AbstractArticlePDF–509K
12.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K
13.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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