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Select item 61387521.

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

Sabine Grønborg, Lotte Risom, Jakob Ek, Karen Bonde Larsen, David Scheie, Yanko Petkov, Vibeke André Larsen, Morten Dunø, Fróði Joensen, Elsebet Østergaard

Eur J Hum Genet. 2018 Oct; 26(10): 1512–1520. Published online 2018 Jun 19. doi: 10.1038/s41431-018-0204-5

PMCID:: PMC6138752

Abstract Article PDF–1.5M

Select item 46410042.

Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts

Heung-Woo Park, Bing Ge, Szeman Tse, Elin Grundberg, Tomi Pastinen, H. William Kelly, Kelan G. Tantisira

J Allergy Clin Immunol. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: J Allergy Clin Immunol. 2015 Nov; 136(5): 1240–1246.e8. Published online 2015 May 27. doi: 10.1016/j.jaci.2015.04.014

PMCID:: PMC4641004

Abstract Article PDF–841K

Select item 64590593.

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway

Shimon Edvardson, Guoling Tian, Hayley Cullen, Hannah Vanyai, Linh Ngo, Saiuj Bhat, Adi Aran, Muhannad Daana, Naderah Da’amseh, Bassam Abu-Libdeh, Nicholas J. Cowan, Julian Ik-Tsen Heng, Orly Elpeleg

Hum Mol Genet. 2016 Nov 1; 25(21): 4635–4648. Published online 2016 Aug 29. doi: 10.1093/hmg/ddw292

PMCID:: PMC6459059

Abstract Article PDF–1.5M

Select item 59569204.

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl, May Christine V. Malicdan

BMC Med Genet. 2018; 19: 80. Published online 2018 May 16. doi: 10.1186/s12881-018-0597-6

PMCID:: PMC5956920

Abstract Article PDF–4.0M

Select item 56937575.

Nucleotide binding to ARL2 in the TBCD ARL2 β-tubulin complex drives conformational changes in β-tubulin

Joshua W. Francis, Devrishi Goswami, Scott J. Novick, Bruce D. Pascal, Emily R. Weikum, Eric A. Ortlund, Patrick R. Griffin, Richard A. Kahn

J Mol Biol. Author manuscript; available in PMC 2018 Nov 24.

Published in final edited form as: J Mol Biol. 2017 Nov 24; 429(23): 3696–3716. Published online 2017 Sep 29. doi: 10.1016/j.jmb.2017.09.016

PMCID:: PMC5693757

Abstract Article PDF–1.7M

Select item 51298916.

Higher order signaling: ARL2 as regulator of both mitochondrial fusion and microtubule dynamics allows integration of 2 essential cell functions

Joshua W. Francis, Rachel E. Turn, Laura E. Newman, Cara Schiavon, Richard A. Kahn

Small GTPases. 2016 Oct-Dec; 7(4): 188–196. Published online 2016 Jul 11. doi: 10.1080/21541248.2016.1211069

PMCID:: PMC5129891

Abstract Article PDF–456K

Select item 50656587.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G. Au, Alessandro Capuano, Emanuela Piermarini, Anna A. Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara Levine, Antonella Sferra, Maria Lisa Dentici, Rolph R. Pfundt, Jean-Baptiste Le Pichon, Emily Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Jr., Carol J. Saunders, Enrico Bertini, Richard A. Kahn, David A. Koolen, Marco Tartaglia

Am J Hum Genet. 2016 Oct 6; 99(4): 962–973. Published online 2016 Sep 22. doi: 10.1016/j.ajhg.2016.08.003

PMCID:: PMC5065658

Abstract Article PDF–2.1M

Select item 50656618.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Noriko Miyake, Ryoko Fukai, Chihiro Ohba, Takahiro Chihara, Masayuki Miura, Hiroshi Shimizu, Akiyoshi Kakita, Eri Imagawa, Masaaki Shiina, Kazuhiro Ogata, Jiu Okuno-Yuguchi, Noboru Fueki, Yoshifumi Ogiso, Hiroshi Suzumura, Yoshiyuki Watabe, George Imataka, Huey Yin Leong, Aviva Fattal-Valevski, Uri Kramer, Satoko Miyatake, Mitsuhiro Kato, Nobuhiko Okamoto, Yoshinori Sato, Satomi Mitsuhashi, Ichizo Nishino, Naofumi Kaneko, Akira Nishiyama, Tomohiko Tamura, Takeshi Mizuguchi, Mitsuko Nakashima, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

Am J Hum Genet. 2016 Oct 6; 99(4): 950–961. Published online 2016 Sep 22. doi: 10.1016/j.ajhg.2016.08.005

PMCID:: PMC5065661

Abstract Article PDF–3.6M

Select item 21207009.

Chaperonin-mediated folding of actin and tubulin

J Cell Biol. 1996 Jan 1; 132(1): 1–4. doi: 10.1083/jcb.132.1.1

PMCID:: PMC2120700

Summary PDF–430K

Select item 805568410.

COMMD4 functions with the histone H2A-H2B dimer for the timely repair of DNA double-strand breaks

Amila Suraweera, Neha S. Gandhi, Sam Beard, Joshua T. Burgess, Laura V. Croft, Emma Bolderson, Ali Naqi, Nicholas W. Ashton, Mark N. Adams, Kienan I. Savage, Shu-Dong Zhang, Kenneth J. O’Byrne, Derek J. Richard

Commun Biol. 2021; 4: 484. Published online 2021 Apr 19. doi: 10.1038/s42003-021-01998-2

PMCID:: PMC8055684

Abstract Article PDF–2.5M

Select item 295823011.

Effect of TBCD and its Regulatory Interactor Arl2 on Tubulin and Microtubule Integrity

Guoling Tian, Simi Thomas, Nicholas J. Cowan

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Cytoskeleton (Hoboken). 2010 Nov; 67(11): 706–714. doi: 10.1002/cm.20480

PMCID:: PMC2958230

Abstract Article PDF–912K

Select item 217482312.

Adp Ribosylation Factor-like Protein 2 (Arl2) Regulates the Interaction of Tubulin-Folding Cofactor D with Native Tubulin

Arunashree Bhamidipati, Sally A. Lewis, Nicholas J. Cowan

J Cell Biol. 2000 May 29; 149(5): 1087–1096. doi: 10.1083/jcb.149.5.1087

PMCID:: PMC2174823

Abstract Article PDF–400K

Select item 213804613.

Tubulin Subunits Exist in an Activated Conformational State Generated and Maintained by Protein Cofactors

Guoling Tian, Sally A. Lewis, Becket Feierbach, Timothy Stearns, Heidi Rommelaere, Christophe Ampe, Nicholas J. Cowan

J Cell Biol. 1997 Aug 25; 138(4): 821–832. doi: 10.1083/jcb.138.4.821

PMCID:: PMC2138046

Abstract Article PDF–582K

Select item 349183514.

5-HT₆ receptor recruitment of mTOR as a mechanism for perturbed cognition in schizophrenia

Julie Meffre, Séverine Chaumont-Dubel, Clotilde Mannoury la Cour, Florence Loiseau, David J G Watson, Anne Dekeyne, Martial Séveno, Jean-Michel Rivet, Florence Gaven, Paul Déléris, Denis Hervé, Kevin C F Fone, Joël Bockaert, Mark J Millan, Philippe Marin

EMBO Mol Med. 2012 Oct; 4(10): 1043–1056. Published online 2012 Oct 2. doi: 10.1002/emmm.201201410

PMCID:: PMC3491835

Abstract Article PDF–1.1M

Select item 658469115.

CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI

Wen-Feng Hu, Kimiko L. Krieger, Dragana Lagundžin, Xueli Li, Ronald S. Cheung, Toshiyasu Taniguchi, Keith R. Johnson, Tadayoshi Bessho, Alvaro N. A. Monteiro, Nicholas T. Woods

Cell Death Discov. 2019; 5: 105. Published online 2019 Jun 19. doi: 10.1038/s41420-019-0185-3

PMCID:: PMC6584691

Abstract Article PDF–1.6M

Select item 495798116.

The TIP60 complex is a conserved coactivator of HIF1A

Joel I. Perez-Perri, Veronica L. Dengler, K. Audrey Audetat, Ahwan Pandey, Elizabeth A. Bonner, Marjeta Urh, Jacqui Mendez, Danette L. Daniels, Pablo Wappner, Matthew D. Galbraith, Joaquín M. Espinosa

Cell Rep. Author manuscript; available in PMC 2016 Jul 22.

Published in final edited form as: Cell Rep. 2016 Jun 28; 16(1): 37–47. Published online 2016 Jun 16. doi: 10.1016/j.celrep.2016.05.082