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Items: 19

1.

Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities.

Stewart M, Lau P, Banks G, Bains RS, Castroflorio E, Oliver PL, Dixon CL, Kruer MC, Kullmann DM, Acevedo-Arozena A, Wells SE, Corrochano S, Nolan PM.

Dis Model Mech. 2019 Feb 22;12(2). pii: dmm036806. doi: 10.1242/dmm.036806.

2.

Skeletal Muscle Modulates Huntington's Disease Pathogenesis in Mice: Role of Physical Exercise.

Corrochano S, Blanco G, Acevedo-Arozena A.

J Exp Neurosci. 2018 Oct 30;12:1179069518809059. doi: 10.1177/1179069518809059. eCollection 2018.

3.

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.

EMBO J. 2018 Jun 1;37(11). pii: e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15.

4.

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.

Harris A, Siggers P, Corrochano S, Warr N, Sagar D, Grimes DT, Suzuki M, Burdine RD, Cong F, Koo BK, Clevers H, Stévant I, Nef S, Wells S, Brauner R, Ben Rhouma B, Belguith N, Eozenou C, Bignon-Topalovic J, Bashamboo A, McElreavey K, Greenfield A.

Proc Natl Acad Sci U S A. 2018 May 22;115(21):5474-5479. doi: 10.1073/pnas.1801223115. Epub 2018 May 7.

5.

A genetic modifier suggests that endurance exercise exacerbates Huntington's disease.

Corrochano S, Blanco G, Williams D, Wettstein J, Simon M, Kumar S, Moir L, Agnew T, Stewart M, Landman A, Kotiadis VN, Duchen MR, Wackerhage H, Rubinsztein DC, Brown SDM, Acevedo-Arozena A.

Hum Mol Genet. 2018 May 15;27(10):1723-1731. doi: 10.1093/hmg/ddy077.

6.

Cartilage regeneration and ageing: Targeting cellular plasticity in osteoarthritis.

Varela-Eirin M, Loureiro J, Fonseca E, Corrochano S, Caeiro JR, Collado M, Mayan MD.

Ageing Res Rev. 2018 Mar;42:56-71. doi: 10.1016/j.arr.2017.12.006. Epub 2017 Dec 16. Review.

PMID:
29258883
7.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC.

Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.

8.

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.

Joyce PI, Fratta P, Landman AS, Mcgoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, Hilton H, Teboul L, Tucker J, Lionikas A, Estabel J, Ramirez-Solis R, White JK, Brandner S, Plagnol V, Bennet DL, Abramov AY, Greensmith L, Fisher EM, Acevedo-Arozena A.

Hum Mol Genet. 2016 Jan 15;25(2):291-307. doi: 10.1093/hmg/ddv471. Epub 2015 Nov 24.

9.

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.

Joyce PI, Mcgoldrick P, Saccon RA, Weber W, Fratta P, West SJ, Zhu N, Carter S, Phatak V, Stewart M, Simon M, Kumar S, Heise I, Bros-Facer V, Dick J, Corrochano S, Stanford MJ, Luong TV, Nolan PM, Meyer T, Brandner S, Bennett DL, Ozdinler PH, Greensmith L, Fisher EM, Acevedo-Arozena A.

Hum Mol Genet. 2015 Apr 1;24(7):1883-97. doi: 10.1093/hmg/ddu605. Epub 2014 Dec 2.

10.

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A.

Brain. 2014 Dec;137(Pt 12):3171-85. doi: 10.1093/brain/awu292. Epub 2014 Oct 27.

11.

Reducing Igf-1r levels leads to paradoxical and sexually dimorphic effects in HD mice.

Corrochano S, Renna M, Osborne G, Carter S, Stewart M, May J, Bates GP, Brown SD, Rubinsztein DC, Acevedo-Arozena A.

PLoS One. 2014 Aug 20;9(8):e105595. doi: 10.1371/journal.pone.0105595. eCollection 2014.

12.

IGF-1 receptor antagonism inhibits autophagy.

Renna M, Bento CF, Fleming A, Menzies FM, Siddiqi FH, Ravikumar B, Puri C, Garcia-Arencibia M, Sadiq O, Corrochano S, Carter S, Brown SD, Acevedo-Arozena A, Rubinsztein DC.

Hum Mol Genet. 2013 Nov 15;22(22):4528-44. doi: 10.1093/hmg/ddt300. Epub 2013 Jun 25.

13.

α-Synuclein levels affect autophagosome numbers in vivo and modulate Huntington disease pathology.

Corrochano S, Renna M, Tomas-Zapico C, Brown SD, Lucas JJ, Rubinsztein DC, Acevedo-Arozena A.

Autophagy. 2012 Mar;8(3):431-2. doi: 10.4161/auto.19259. Epub 2012 Feb 24.

PMID:
22361581
14.

α-Synuclein levels modulate Huntington's disease in mice.

Corrochano S, Renna M, Carter S, Chrobot N, Kent R, Stewart M, Cooper J, Brown SD, Rubinsztein DC, Acevedo-Arozena A.

Hum Mol Genet. 2012 Feb 1;21(3):485-94. doi: 10.1093/hmg/ddr477. Epub 2011 Oct 18. Erratum in: Hum Mol Genet. 2012 Dec 1;21(23):5237.

15.

α-Synuclein impairs macroautophagy: implications for Parkinson's disease.

Winslow AR, Chen CW, Corrochano S, Acevedo-Arozena A, Gordon DE, Peden AA, Lichtenberg M, Menzies FM, Ravikumar B, Imarisio S, Brown S, O'Kane CJ, Rubinsztein DC.

J Cell Biol. 2010 Sep 20;190(6):1023-37. doi: 10.1083/jcb.201003122.

16.

Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease.

Rose C, Menzies FM, Renna M, Acevedo-Arozena A, Corrochano S, Sadiq O, Brown SD, Rubinsztein DC.

Hum Mol Genet. 2010 Jun 1;19(11):2144-53. doi: 10.1093/hmg/ddq093. Epub 2010 Feb 27.

17.

Functional and structural modifications during retinal degeneration in the rd10 mouse.

Barhoum R, Martínez-Navarrete G, Corrochano S, Germain F, Fernandez-Sanchez L, de la Rosa EJ, de la Villa P, Cuenca N.

Neuroscience. 2008 Aug 26;155(3):698-713. doi: 10.1016/j.neuroscience.2008.06.042. Epub 2008 Jul 3.

PMID:
18639614
18.

Attenuation of vision loss and delay in apoptosis of photoreceptors induced by proinsulin in a mouse model of retinitis pigmentosa.

Corrochano S, Barhoum R, Boya P, Arroba AI, Rodríguez-Muela N, Gómez-Vicente V, Bosch F, de Pablo F, de la Villa P, de la Rosa EJ.

Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4188-94. doi: 10.1167/iovs.08-2182. Epub 2008 May 30.

19.

Proinsulin/insulin is synthesized locally and prevents caspase- and cathepsin-mediated cell death in the embryonic mouse retina.

Valenciano AI, Corrochano S, de Pablo F, de la Villa P, de la Rosa EJ.

J Neurochem. 2006 Oct;99(2):524-36.

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