PMC Links for Nucleotide (Select 1519311496) - PMC

Select item 46325051.

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

Mark T. Handley, Sarah M. Carpanini, Girish R. Mali, Duska J. Sidjanin, Irene A. Aligianis, Ian J. Jackson, David R. FitzPatrick

Open Biol. 2015 Jun; 5(6): 150047. Published online 2015 Jun 10. doi: 10.1098/rsob.150047

PMCID:: PMC4632505

Abstract Article PDF–1.2M

Select item 38529262.

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, Stephen Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah J. Morris-Rosendahl, Sarah Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M.H. Abdel-Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, Duska J. Sidjanin

Am J Hum Genet. 2013 Dec 5; 93(6): 1001–1014. doi: 10.1016/j.ajhg.2013.10.011

PMCID:: PMC3852926

Abstract Article PDF–2.8M

Select item 35356123.

Catalytic mechanism of a mammalian Rab·RabGAP complex in atomic detail

Konstantin Gavriljuk, Emerich-Mihai Gazdag, Aymelt Itzen, Carsten Kötting, Roger S. Goody, Klaus Gerwert

Proc Natl Acad Sci U S A. 2012 Dec 26; 109(52): 21348–21353. Published online 2012 Dec 12. doi: 10.1073/pnas.1214431110

PMCID:: PMC3535612

Abstract Article PDF–818K

Select item 33935524.

Role for TBC1D20 and Rab1 in Hepatitis C Virus Replication via Interaction with Lipid Droplet-Bound Nonstructural Protein 5A

Inbar Nevo-Yassaf, Yakey Yaffe, Meital Asher, Orly Ravid, Sharon Eizenberg, Yoav I. Henis, Yaakov Nahmias, Koret Hirschberg, Ella H. Sklan

J Virol. 2012 Jun; 86(12): 6491–6502. doi: 10.1128/JVI.00496-12

PMCID:: PMC3393552

Abstract Article PDF–6.6M

Select item 20648545.

Functional dissection of Rab GTPases involved in primary cilium formation

Shin-ichiro Yoshimura, Johannes Egerer, Evelyn Fuchs, Alexander K. Haas, Francis A. Barr

J Cell Biol. 2007 Jul 30; 178(3): 363–369. doi: 10.1083/jcb.200703047

PMCID:: PMC2064854

Abstract Article PDF–3.8M

Select item 47855646.

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

Eri Imagawa, Ryoko Fukai, Mahdiyeh Behnam, Manisha Goyal, Narges Nouri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Mansour Salehi, Seema Kapoor, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

Hum Genome Var. 2015; 2: 15034. Published online 2015 Sep 17. doi: 10.1038/hgv.2015.34

PMCID:: PMC4785564

Abstract Article PDF–452K

Select item 20455677.

A Rab-GAP TBC Domain Protein Binds Hepatitis C Virus NS5A and Mediates Viral Replication

Ella H. Sklan, Kirk Staschke, Tina M. Oakes, Menashe Elazar, Mark Winters, Benjamin Aroeti, Tsafi Danieli, Jeffrey S. Glenn

J Virol. 2007 Oct; 81(20): 11096–11105. Published online 2007 Aug 8. doi: 10.1128/JVI.01249-07

PMCID:: PMC2045567

Abstract Article PDF–790K

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