PMC Links for GEO Profiles (Select 65780386) - PMC

Select item 63602731.

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Mattéa J Finelli, Davide Aprile, Enrico Castroflorio, Alexander Jeans, Matteo Moschetta, Lauren Chessum, Matteo T Degiacomi, Julia Grasegger, Alexis Lupien-Meilleur, Andrew Bassett, Elsa Rossignol, Philippe M Campeau, Michael R Bowl, Fabio Benfenati, Anna Fassio, Peter L Oliver

Hum Mol Genet. 2019 Feb 15; 28(4): 584–597. Published online 2018 Oct 17. doi: 10.1093/hmg/ddy370

PMCID:: PMC6360273

Abstract Article PDF–21M

Select item 47427412.

The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress

Mattéa J. Finelli, Luis Sanchez-Pulido, Kevin X Liu, Kay E. Davies, Peter L. Oliver

J Biol Chem. 2016 Feb 5; 291(6): 2751–2763. Published online 2015 Dec 14. doi: 10.1074/jbc.M115.685222

PMCID:: PMC4742741

Abstract Article PDF–6.5M

Select item 45707743.

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Amina Bakhchane, Majida Charif, Sara Salime, Redouane Boulouiz, Halima Nahili, Rachida Roky, Guy Lenaers, Abdelhamid Barakat

PLoS One. 2015; 10(9): e0138072. Published online 2015 Sep 15. doi: 10.1371/journal.pone.0138072

PMCID:: PMC4570774

Abstract Article PDF–941K

Select item 42676854.

TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss

Hela Azaiez, Kevin T. Booth, Fengxiao Bu, Patrick Huygen, Seiji Shibata, A. Eliot Shearer, Diana Kolbe, Nicole Meyer, E. Ann Black-Ziegelbein, Richard J.H. Smith

Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 819–823. Published online 2014 May 6. doi: 10.1002/humu.22557

PMCID:: PMC4267685

Abstract Article PDF–218K

Select item 39260285.

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

Antonio Falace, Emmanuelle Buhler, Manuela Fadda, Françoise Watrin, Pellegrino Lippiello, Emilie Pallesi-Pocachard, Pietro Baldelli, Fabio Benfenati, Federico Zara, Alfonso Represa, Anna Fassio, Carlos Cardoso

Proc Natl Acad Sci U S A. 2014 Feb 11; 111(6): 2337–2342. Published online 2014 Jan 27. doi: 10.1073/pnas.1316294111

PMCID:: PMC3926028

Abstract Article PDF–1.6M

Select item 31780596.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 29333427.

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Mark A. Corbett, Melanie Bahlo, Lachlan Jolly, Zaid Afawi, Alison E. Gardner, Karen L. Oliver, Stanley Tan, Amy Coffey, John C. Mulley, Leanne M. Dibbens, Walid Simri, Adel Shalata, Sara Kivity, Graeme D. Jackson, Samuel F. Berkovic, Jozef Gecz

Am J Hum Genet. 2010 Sep 10; 87(3): 371–375. doi: 10.1016/j.ajhg.2010.08.001

PMCID:: PMC2933342

Abstract Article PDF–618K

Select item 29333358.

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, Fabrizio A. de Falco, Pasquale Striano, Franca Dagna Bricarelli, Carlo Minetti, Fabio Benfenati, Anna Fassio, Federico Zara

Am J Hum Genet. 2010 Sep 10; 87(3): 365–370. doi: 10.1016/j.ajhg.2010.07.020

PMCID:: PMC2933335

Abstract Article PDF–835K

Select item 20648549.

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

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