PMC Links for Nucleotide (Select 255522828) - 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

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

Article PDF–6.5M

Select item 29333423.

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

Article PDF–618K

Select item 29333354.

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

Article PDF–835K

Select item 26935415.

Extensive molecular differences between anterior- and posterior-half-sclerotomes underlie somite polarity and spinal nerve segmentation

Daniel ST Hughes, Roger J Keynes, David Tannahill

BMC Dev Biol. 2009; 9: 30. Published online 2009 May 22. doi: 10.1186/1471-213X-9-30

PMCID:: PMC2693541

Article PDF–1.3M

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