Citations for
1NCALD, PLS3
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B.
Am J Hum Genet 100(2):297-315. doi: 10.1016/j.ajhg.2017.01.005. 2017
2CORO1C, PLS3, SMA, TMOD3
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B.
Am J Hum Genet 99(3):647-65. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4. 2016
3CDH1, MRCPH, MRDO, PLS3
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.
Nishi E, Masuda K, Arakawa M, Kawame H, Kosho T, Kitahara M, Kubota N, Hidaka E, Katoh Y, Shirahige K, Izumi K.
Am J Med Genet A 170(11):2889-2894. doi: 10.1002/ajmg.a.37826. 2016
4NRN1, PLS3
Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings.
Yener İH, Topaloglu H, Erdem-Özdamar S, Dayangac-Erden D.
Pediatr Int ediatr Int. 2016 Jun 9. doi: 10.1111/ped.13052. [Epub ahead of print] 2016
5PLS3
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
Heesen L, Peitz M, Torres-Benito L, Hölker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SM, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B.
Cell Mol Life Sci 73(10):2089-104. doi: 10.1007/s00018-015-2084-y. Epub 2015 Nov 16. 2016
6COPO, PLS3
A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.
Laine CM, Wessman M, Toiviainen-Salo S, Kaunisto MA, Mäyränpää MK, Laine T, Pekkinen M, Kröger H, Välimäki VV, Välimäki MJ, Lehesjoki AE, Mäkitie O.
J Bone Miner Res 30(3):510-8. doi: 10.1002/jbmr.2355. 2015
7COPO, PLS3
New Genetic Forms of Childhood-Onset Primary Osteoporosis.
Kämpe AJ, Mäkitie RE, Mäkitie O.
Horm Res Paediatr 84(6):361-9. doi: 10.1159/000439566. Review. 2015
8GATA6, PLS3, TWIST1
Promoter-Specific Hypomethylation Is Associated with Overexpression of PLS3, GATA6, and TWIST1 in the Sezary Syndrome.
Wong HK, Gibson H, Hake T, Geyer S, Frederickson J, Marcucci G, Caligiuri MA, Porcu P, Mishra A.
J Invest Dermatol 135(8):2084-92. doi: 10.1038/jid.2015.116. Epub 2015 Mar 25. 2015
9COPO, PLS3
A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.
Laine CM, Wessman M, Toiviainen-Salo S, Kaunisto MA, Mäyränpää MK, Laine T, Pekkinen M, Kröger H, Välimäki VV, Välimäki MJ, Lehesjoki AE, Mäkitie O.
J Bone Miner Res 30(3):510-8. doi: 10.1002/jbmr.2355. 2015
10COPO, PLS3
Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics.
Fahiminiya S, Majewski J, Al-Jallad H, Moffatt P, Mort J, Glorieux FH, Roschger P, Klaushofer K, Rauch F.
J Bone Miner Res 29(8):1805-14. doi: 10.1002/jbmr.2208. 2014
11PLS3
Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons.
Lyon AN, Pineda RH, Hao le T, Kudryashova E, Kudryashov DS, Beattie CE.
Hum Mol Genet 23(8):1990-2004. doi: 10.1093/hmg/ddt595. Epub 2013 Nov 23. 2014
12PLS3
Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy.
Yanyan C, Yujin Q, Jinli B, Yuwei J, Hong W, Fang S.
J Hum Genet 59(1):24-7. doi: 10.1038/jhg.2013.111. Epub 2013 Oct 31. 2014
13COPO, PLS3
PLS3 mutations in X-linked osteoporosis with fractures.
van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G.
N Engl J Med 369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2. 2013
14PLS3
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.
Ackermann B, Kröber S, Torres-Benito L, Borgmann A, Peters M, Hosseini Barkooie SM, Tejero R, Jakubik M, Schreml J, Milbradt J, Wunderlich TF, Riessland M, Tabares L, Wirth B.
Hum Mol Genet 22(7):1328-47. doi: 10.1093/hmg/dds540. Epub 2012 Dec 20. 2013
15PLS3
Survival motor neuron affects plastin 3 protein levels leading to motor defects.
Hao le T, Wolman M, Granato M, Beattie CE.
J Neurosci 32(15):5074-84. doi: 10.1523/JNEUROSCI.5808-11.2012. 2012
16PLS3
Regulation of T-plastin expression by promoter hypomethylation in primary cutaneous T-cell lymphoma.
Jones CL, Ferreira S, McKenzie RC, Tosi I, Caesar JA, Bagot M, Whittaker SJ, Mitchell TJ.
J Invest Dermatol 132(8):2042-9. doi: 10.1038/jid.2012.106. Epub 2012 Apr 12. 2012
17PLS3, SMN1
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.
Oprea GE, Kr�er S, McWhorter ML, Rossoll W, M�ler S, Krawczak M, Bassell GJ, Beattie CE, Wirth B.
Science 320(5875):524-7. 2008
18PLS3, LCP1, ATXN2, HTT, SH3GL3, SH3GL2
Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
Ralser M, Nonhoff U, Albrecht M, Lengauer T, Wanker EE, Lehrach H, Krobitsch S.
Hum Mol Genet 14(19):2893-2909. Epub 2005 Aug 22. 2005
19PLS3
The role of T-fimbrin in the response to DNA damage: silencing of T-fimbrin by small interfering RNA sensitizes human liver cancer cells to DNA-damaging agents.
Ikeda H, Sasaki Y, Kobayashi T, Suzuki H, Mita H, Toyota M, Itoh F, Shinomura Y, Tokino T, Imai K.
Int J Oncol 27(4):933-40. 2005
20PLS3
Actin-filament cross-linking protein T-plastin increases Arp2/3-mediated actin-based movement.
Giganti A, Plastino J, Janji B, Van Troys M, Lentz D, Ampe C, Sykes C, Friederich E.
J Cell Sci 118(Pt 6):1255-65. Epub 2005 Mar 1. 2005
21PLS3
Changes in T-plastin expression with human trophoblast differentiation.
Rao RM, Rama S, Rao AJ.
Reprod Biomed Online 7(2):235-42. 2003
22PLS3
Functional differences between L- and T-plastin isoforms.
Arpin M, Friederich E, Algrain M, Vernel F, Louvard D.
J Cell Biol 127(6 Pt 2):1995-2008. 1994
23PLS3
Human plastin genes. Comparative gene structure, chromosome location, anddifferential expression in normal and neoplastic cells.
Lin CS, Park T, Chen ZP, Leavitt J.
J Biol Chem 268(4):2781-92. 1993
24PLS3
Correction of the N-terminal sequences of the human plastin isoforms by usinganchored polymerase chain reaction: identification of a potentialcalcium-binding domain.
Lin CS, Aebersold RH, Leavitt J.
Mol Cell Biol 10(4):1818-21. 1990
25LCP1, PLS3
Molecular cloning and characterization of plastin, a human leukocyte proteinexpressed in transformed human fibroblasts.
Lin CS, Aebersold RH, Kent SB, Varma M, Leavitt J.
Mol Cell Biol 8(11):4659-68. 1988