PMC Links for Protein (Select 18859591) - PMC

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Items: 4

Select item 67152541.

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

Abigail R. Moye, Nicola Bedoni, Jessica G. Cunningham, Urikhan Sanzhaeva, Eric S. Tucker, Peter Mathers, Virginie G. Peter, Mathieu Quinodoz, Liliana P. Paris, Luísa Coutinho-Santos, Pedro Camacho, Madeleine G. Purcell, Abbie C. Winkelmann, James A. Foster, Elena N. Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy

PLoS Genet. 2019 Aug; 15(8): e1008315. Published online 2019 Aug 19. doi: 10.1371/journal.pgen.1008315

PMCID:: PMC6715254

Abstract Article PDF–6.7M

Select item 60806592.

ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure

Abigail R. Moye, Ratnesh Singh, Victoria A. Kimler, Tanya L. Dilan, Daniella Munezero, Thamaraiselvi Saravanan, Andrew F. X. Goldberg, Visvanathan Ramamurthy

Mol Biol Cell. 2018 Jul 1; 29(13): 1590–1598. doi: 10.1091/mbc.E18-01-0040

PMCID:: PMC6080659

Abstract Article PDF–4.0M

Select item 37388233.

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

Alice E. Davidson, Nele Schwarz, Lina Zelinger, Gabriele Stern-Schneider, Amelia Shoemark, Benjamin Spitzbarth, Menachem Gross, Uri Laxer, Jacob Sosna, Panagiotis I. Sergouniotis, Naushin H. Waseem, Robert Wilson, Richard A. Kahn, Vincent Plagnol, Uwe Wolfrum, Eyal Banin, Alison J. Hardcastle, Michael E. Cheetham, Dror Sharon, Andrew R. Webster

Am J Hum Genet. 2013 Aug 8; 93(2): 321–329. doi: 10.1016/j.ajhg.2013.06.003