PMC Links for Protein (Select 238908503) - PMC

Select item 55671461.

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

Jamal Ghoumid, Florence Petit, Odile Boute-Benejean, Frédéric Frenois, Maryse Cartigny, Clémence Vanlerberghe, Thomas Smol, Roseline Caumes, Nicolas de ROUX, Sylvie Manouvrier-Hanu

Eur J Hum Genet. 2017 Aug; 25(8): 1011–1014. Published online 2017 Jun 7. doi: 10.1038/ejhg.2017.73

PMCID:: PMC5567146

Abstract Article PDF–902K

Select item 32134032.

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard

Am J Hum Genet. 2011 Nov 11; 89(5): 652–655. doi: 10.1016/j.ajhg.2011.10.006

PMCID:: PMC3213403

Abstract Article PDF–526K

Select item 32133923.

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, Jun-ichi Takanashi, Keisuke Hamada, Akio Yamashita, Hidehiro Shibayama, Masaaki Shiina, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Noriko Miyake, Hiroshi Doi, Kazuhiro Ogata, Ken Inoue, Naomichi Matsumoto

Am J Hum Genet. 2011 Nov 11; 89(5): 644–651. doi: 10.1016/j.ajhg.2011.10.003

PMCID:: PMC3213392

Abstract Article PDF–889K

Select item 1347404.

Characterization of Human RNA Polymerase III Identifies Orthologues for Saccharomyces cerevisiae RNA Polymerase III Subunits

Ping Hu, Si Wu, Yuling Sun, Chih-Chi Yuan, Ryuji Kobayashi, Michael P. Myers, Nouria Hernandez

Mol Cell Biol. 2002 Nov; 22(22): 8044–8055. doi: 10.1128/MCB.22.22.8044-8055.2002

PMCID:: PMC134740

Abstract Article PDF–966K

Select item 45200205.

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Á. Martos-Moreno, Luan T. Tran, William Benko, Marjo S. van der Knaap, Rosalina M. L. van Spaendonk, Nicole I. Wolf, Geneviève Bernard

Orphanet J Rare Dis. 2015; 10: 69. Published online 2015 Jun 5. doi: 10.1186/s13023-015-0279-9

PMCID:: PMC4520020

Abstract Article PDF–1.2M

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