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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. 2016 Sep 1;99(3):647-665. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4.


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. 2017 Feb 2;100(2):297-315. doi: 10.1016/j.ajhg.2017.01.005. Epub 2017 Jan 26.


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. 2014 Apr 15;23(8):1990-2004. doi: 10.1093/hmg/ddt595. Epub 2013 Nov 23.


Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse.

McGovern VL, Massoni-Laporte A, Wang X, Le TT, Le HT, Beattie CE, Rich MM, Burghes AH.

PLoS One. 2015 Jul 2;10(7):e0132364. doi: 10.1371/journal.pone.0132364. eCollection 2015.


Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.

Strathmann EA, Peters M, Hosseinibarkooie S, Rigo FW, Bennett CF, Zaworski PG, Chen KS, Nothnagel M, Wirth B.

PLoS One. 2018 Sep 6;13(9):e0203398. doi: 10.1371/journal.pone.0203398. eCollection 2018.


CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.

Janzen E, Mendoza-Ferreira N, Hosseinibarkooie S, Schneider S, Hupperich K, Tschanz T, Grysko V, Riessland M, Hammerschmidt M, Rigo F, Bennett CF, Kye MJ, Torres-Benito L, Wirth B.

Brain. 2018 Aug 1;141(8):2343-2361. doi: 10.1093/brain/awy167.


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. 2016 May;73(10):2089-104. doi: 10.1007/s00018-015-2084-y. Epub 2015 Nov 16.


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. 2013 Apr 1;22(7):1328-47. doi: 10.1093/hmg/dds540. Epub 2012 Dec 20.


Modifier genes: Moving from pathogenesis to therapy.

McCabe ERB.

Mol Genet Metab. 2017 Sep;122(1-2):1-3. doi: 10.1016/j.ymgme.2017.05.018. Epub 2017 May 30.


Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B.

Science. 2008 Apr 25;320(5875):524-7. doi: 10.1126/science.1155085.


Survival motor neuron affects plastin 3 protein levels leading to motor defects.

Hao le T, Wolman M, Granato M, Beattie CE.

J Neurosci. 2012 Apr 11;32(15):5074-84. doi: 10.1523/JNEUROSCI.5808-11.2012.


Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.

Bernal S, Also-Rallo E, Martínez-Hernández R, Alías L, Rodríguez-Alvarez FJ, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF.

Neuromuscul Disord. 2011 Jun;21(6):413-9. doi: 10.1016/j.nmd.2011.03.009. Epub 2011 May 4.


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. 2014 Jan;59(1):24-7. doi: 10.1038/jhg.2013.111. Epub 2013 Oct 31.


Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.

Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF, Krainer AR.

Nature. 2011 Oct 5;478(7367):123-6. doi: 10.1038/nature10485.


SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.

Riessland M, Ackermann B, Förster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blumcke I, Hahnen E, Wirth B.

Hum Mol Genet. 2010 Apr 15;19(8):1492-506. doi: 10.1093/hmg/ddq023. Epub 2010 Jan 22.


Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy.

Williams JH, Schray RC, Patterson CA, Ayitey SO, Tallent MK, Lutz GJ.

J Neurosci. 2009 Jun 17;29(24):7633-8. doi: 10.1523/JNEUROSCI.0950-09.2009.


Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM.

Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20.


A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.

Bowerman M, Murray LM, Beauvais A, Pinheiro B, Kothary R.

Neuromuscul Disord. 2012 Mar;22(3):263-76. doi: 10.1016/j.nmd.2011.09.007. Epub 2011 Nov 8.


The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.

Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossoll W, Prior TW, Morris GE, Burghes AH.

Hum Mol Genet. 2000 Feb 12;9(3):333-9. Erratum in: Hum Mol Genet. 2007 Nov 1;16(21):2648. Rossol, W [corrected to Rossoll, W].


SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

Bowerman M, Anderson CL, Beauvais A, Boyl PP, Witke W, Kothary R.

Mol Cell Neurosci. 2009 Sep;42(1):66-74. doi: 10.1016/j.mcn.2009.05.009. Epub 2009 Jun 1.


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