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Items: 1 to 50 of 54

1.

Transforming growth factor beta 1 signaling is altered in the spinal cord and muscle of amyotrophic lateral sclerosis mice and patients.

Meroni M, Crippa V, Cristofani R, Rusmini P, Cicardi ME, Messi E, Piccolella M, Tedesco B, Ferrari V, Sorarù G, Pennuto M, Poletti A, Galbiati M.

Neurobiol Aging. 2019 Jul 10;82:48-59. doi: 10.1016/j.neurobiolaging.2019.07.001. [Epub ahead of print]

PMID:
31394426
2.

Pituitary Adenylyl Cyclase Activating Polypeptide (PACAP) Signaling and the Cell Cycle Machinery in Neurodegenerative Diseases.

Polanco MJ, Pennuto M.

Curr Pharm Des. 2018;24(33):3878-3891. doi: 10.2174/1381612825666181127102311.

PMID:
30479210
3.

Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region.

Bertolin C, Querin G, Martinelli I, Pennuto M, Pegoraro E, Sorarù G.

Eur J Neurol. 2019 Mar;26(3):519-524. doi: 10.1111/ene.13850. Epub 2018 Dec 7.

PMID:
30351503
4.

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

Manzano R, Sorarú G, Grunseich C, Fratta P, Zuccaro E, Pennuto M, Rinaldi C.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):808-812. doi: 10.1136/jnnp-2017-316961. Epub 2018 Jan 20. Review.

5.

Mutations in TGM6 induce the unfolded protein response in SCA35.

Tripathy D, Vignoli B, Ramesh N, Polanco MJ, Coutelier M, Stephen CD, Canossa M, Monin ML, Aeschlimann P, Turberville S, Aeschlimann D, Schmahmann JD, Hadjivassiliou M, Durr A, Pandey UB, Pennuto M, Basso M.

Hum Mol Genet. 2017 Oct 1;26(19):3749-3762. doi: 10.1093/hmg/ddx259.

PMID:
28934387
6.

From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?

Pennuto M, Rinaldi C.

Mol Cell Endocrinol. 2018 Apr 15;465:113-121. doi: 10.1016/j.mce.2017.07.005. Epub 2017 Jul 5. Review.

PMID:
28688959
7.

Altered ionic currents and amelioration by IGF-1 and PACAP in motoneuron-derived cells modelling SBMA.

Jiménez Garduño AM, Juárez-Hernández LJ, Polanco MJ, Tosatto L, Michelatti D, Arosio D, Basso M, Pennuto M, Musio C.

Biophys Chem. 2017 Oct;229:68-76. doi: 10.1016/j.bpc.2017.05.003. Epub 2017 May 10.

PMID:
28511915
8.

The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case.

Querin G, Martinelli I, Bertolin C, Pegoraro E, Pennuto M, Sorarù G.

Ann Oncol. 2017 May 1;28(5):1160-1161. doi: 10.1093/annonc/mdx038. No abstract available.

PMID:
28453707
9.

Post-translational Modifications and Protein Quality Control in Motor Neuron and Polyglutamine Diseases.

Sambataro F, Pennuto M.

Front Mol Neurosci. 2017 Mar 31;10:82. doi: 10.3389/fnmol.2017.00082. eCollection 2017. Review.

10.

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes.

Milioto C, Malena A, Maino E, Polanco MJ, Marchioretti C, Borgia D, Pereira MG, Blaauw B, Lieberman AP, Venturini R, Plebani M, Sambataro F, Vergani L, Pegoraro E, Sorarù G, Pennuto M.

Sci Rep. 2017 Jan 24;7:41046. doi: 10.1038/srep41046.

11.

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.

Borgia D, Malena A, Spinazzi M, Desbats MA, Salviati L, Russell AP, Miotto G, Tosatto L, Pegoraro E, Sorarù G, Pennuto M, Vergani L.

Hum Mol Genet. 2017 Mar 15;26(6):1087-1103. doi: 10.1093/hmg/ddx019.

12.

Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy.

Polanco MJ, Parodi S, Piol D, Stack C, Chivet M, Contestabile A, Miranda HC, Lievens PM, Espinoza S, Jochum T, Rocchi A, Grunseich C, Gainetdinov RR, Cato AC, Lieberman AP, La Spada AR, Sambataro F, Fischbeck KH, Gozes I, Pennuto M.

Sci Transl Med. 2016 Dec 21;8(370):370ra181. doi: 10.1126/scitranslmed.aaf9526.

PMID:
28003546
13.

Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing.

Giorgetti E, Yu Z, Chua JP, Shimamura R, Zhao L, Zhu F, Venneti S, Pennuto M, Guan Y, Hung G, Lieberman AP.

Cell Rep. 2016 Sep 27;17(1):125-136. doi: 10.1016/j.celrep.2016.08.084.

14.

No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.

Bertolin C, Querin G, Da Re E, Sagnelli A, Bello L, Cao M, Muscas M, Pennuto M, Ermani M, Pegoraro E, Mariotti C, Gellera C, Hanna MG, Pareyson D, Fratta P, Sorarù G.

Eur J Neurol. 2016 Jun;23(6):1134-6. doi: 10.1111/ene.13001.

PMID:
27141859
15.

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet.

Rocchi A, Milioto C, Parodi S, Armirotti A, Borgia D, Pellegrini M, Urciuolo A, Molon S, Morbidoni V, Marabita M, Romanello V, Gatto P, Blaauw B, Bonaldo P, Sambataro F, Robins DM, Lieberman AP, Sorarù G, Vergani L, Sandri M, Pennuto M.

Acta Neuropathol. 2016 Jul;132(1):127-44. doi: 10.1007/s00401-016-1550-4. Epub 2016 Mar 12.

16.

Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy.

Pennuto M, Gozes I.

J Mol Neurosci. 2016 Mar;58(3):313-6. doi: 10.1007/s12031-016-0720-0. Epub 2016 Feb 13.

PMID:
26875173
17.

In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy.

Pennuto M, Basso M.

J Mol Neurosci. 2016 Mar;58(3):365-73. doi: 10.1007/s12031-015-0677-4. Epub 2015 Nov 27. Review.

PMID:
26614347
18.

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.

Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, Ferlin A, Sorarù G; Italian Study Group on Kennedy's disease.

J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):810-6. doi: 10.1136/jnnp-2015-311305. Epub 2015 Oct 26.

19.

Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy.

Rusmini P, Polanco MJ, Cristofani R, Cicardi ME, Meroni M, Galbiati M, Piccolella M, Messi E, Giorgetti E, Lieberman AP, Milioto C, Rocchi A, Aggarwal T, Pennuto M, Crippa V, Poletti A.

Sci Rep. 2015 Oct 22;5:15174. doi: 10.1038/srep15174.

20.

Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease).

Finsterer J, Mishra A, Wakil S, Pennuto M, Soraru G.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;17(1-2):112-8. doi: 10.3109/21678421.2015.1089910. Epub 2015 Oct 1. Review.

PMID:
26428534
21.

210th ENMC International Workshop: Research and clinical management of patients with spinal and bulbar muscular atrophy, 27-29 March, 2015, Naarden, The Netherlands.

Pennuto M, Greensmith L, Pradat PF, Sorarù G; European SBMA Consortium.

Neuromuscul Disord. 2015 Oct;25(10):802-12. doi: 10.1016/j.nmd.2015.06.462. Epub 2015 Jun 19. No abstract available.

PMID:
26206601
22.

Serine phosphorylation and arginine methylation at the crossroads to neurodegeneration.

Basso M, Pennuto M.

Exp Neurol. 2015 Sep;271:77-83. doi: 10.1016/j.expneurol.2015.05.003. Epub 2015 May 12. Review.

PMID:
25979114
23.

Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.

Scaramuzzino C, Casci I, Parodi S, Lievens PMJ, Polanco MJ, Milioto C, Chivet M, Monaghan J, Mishra A, Badders N, Aggarwal T, Grunseich C, Sambataro F, Basso M, Fackelmayer FO, Taylor JP, Pandey UB, Pennuto M.

Neuron. 2015 Jan 7;85(1):88-100. doi: 10.1016/j.neuron.2014.12.031.

24.

Identification and Expression of Acetylcholinesterase in Octopus vulgaris Arm Development and Regeneration: a Conserved Role for ACHE?

Fossati SM, Candiani S, Nödl MT, Maragliano L, Pennuto M, Domingues P, Benfenati F, Pestarino M, Zullo L.

Mol Neurobiol. 2015 Aug;52(1):45-56. doi: 10.1007/s12035-014-8842-2. Epub 2014 Aug 12.

PMID:
25112677
25.

Androgens affect muscle, motor neuron, and survival in a mouse model of SOD1-related amyotrophic lateral sclerosis.

Aggarwal T, Polanco MJ, Scaramuzzino C, Rocchi A, Milioto C, Emionite L, Ognio E, Sambataro F, Galbiati M, Poletti A, Pennuto M.

Neurobiol Aging. 2014 Aug;35(8):1929-38. doi: 10.1016/j.neurobiolaging.2014.02.004. Epub 2014 Feb 6.

PMID:
24630363
26.

Differential autophagy power in the spinal cord and muscle of transgenic ALS mice.

Crippa V, Boncoraglio A, Galbiati M, Aggarwal T, Rusmini P, Giorgetti E, Cristofani R, Carra S, Pennuto M, Poletti A.

Front Cell Neurosci. 2013 Nov 26;7:234. doi: 10.3389/fncel.2013.00234. eCollection 2013.

27.

Revisiting default mode network function in major depression: evidence for disrupted subsystem connectivity.

Sambataro F, Wolf ND, Pennuto M, Vasic N, Wolf RC.

Psychol Med. 2014 Jul;44(10):2041-51. doi: 10.1017/S0033291713002596. Epub 2013 Oct 31.

PMID:
24176176
28.

Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy.

Malena A, Pennuto M, Tezze C, Querin G, D'Ascenzo C, Silani V, Cenacchi G, Scaramozza A, Romito S, Morandi L, Pegoraro E, Russell AP, Sorarù G, Vergani L.

Acta Neuropathol. 2013 Jul;126(1):109-21. doi: 10.1007/s00401-013-1122-9. Epub 2013 May 4.

PMID:
23644820
29.

Protein arginine methyltransferase 1 and 8 interact with FUS to modify its sub-cellular distribution and toxicity in vitro and in vivo.

Scaramuzzino C, Monaghan J, Milioto C, Lanson NA Jr, Maltare A, Aggarwal T, Casci I, Fackelmayer FO, Pennuto M, Pandey UB.

PLoS One. 2013 Apr 19;8(4):e61576. doi: 10.1371/journal.pone.0061576. Print 2013.

30.

New routes to therapy for spinal and bulbar muscular atrophy.

Rocchi A, Pennuto M.

J Mol Neurosci. 2013 Jul;50(3):514-23. doi: 10.1007/s12031-013-9978-7. Epub 2013 Feb 19. Review.

PMID:
23420040
31.

Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy.

Rinaldi C, Bott LC, Chen KL, Harmison GG, Katsuno M, Sobue G, Pennuto M, Fischbeck KH.

Mol Med. 2012 Dec 6;18:1261-8. doi: 10.2119/molmed.2012.00271.

32.

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.

Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME.

Brain. 2012 Jul;135(Pt 7):2032-47. doi: 10.1093/brain/aws140. Epub 2012 Jun 10.

33.

Catechol-o-methyl transferase modulates cognition in late life: evidence and implications for cognitive enhancement.

Sambataro F, Pennuto M, Christian Wolf R.

CNS Neurol Disord Drug Targets. 2012 May;11(3):195-208. Review.

PMID:
22483295
34.

The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.

Parodi S, Di Zanni E, Di Lascio S, Bocca P, Prigione I, Fornasari D, Pennuto M, Bachetti T, Ceccherini I.

J Mol Med (Berl). 2012 Sep;90(9):1025-35. doi: 10.1007/s00109-012-0868-1. Epub 2012 Feb 4.

PMID:
22307522
35.

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis.

Bruson A, Sambataro F, Querin G, D'Ascenzo C, Palmieri A, Agostini J, Gaiani A, Angelini C, Galbiati M, Poletti A, Pennuto M, Pegoraro E, Clementi M, Soraru G.

Eur J Neurol. 2012 Oct;19(10):1373-5. doi: 10.1111/j.1468-1331.2011.03646.x. Epub 2012 Jan 10.

PMID:
22233359
36.

Cell-autonomous and non-cell-autonomous toxicity in polyglutamine diseases.

Sambataro F, Pennuto M.

Prog Neurobiol. 2012 May;97(2):152-72. doi: 10.1016/j.pneurobio.2011.10.003. Epub 2011 Nov 2. Review.

PMID:
22061202
37.

Neurotoxic effects of androgens in spinal and bulbar muscular atrophy.

Parodi S, Pennuto M.

Front Neuroendocrinol. 2011 Oct;32(4):416-25. doi: 10.1016/j.yfrne.2011.06.003. Epub 2011 Jul 1. Review.

38.

Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy.

Nedelsky NB, Pennuto M, Smith RB, Palazzolo I, Moore J, Nie Z, Neale G, Taylor JP.

Neuron. 2010 Sep 23;67(6):936-52. doi: 10.1016/j.neuron.2010.08.034.

39.

Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.

Mbaya E, Oulès B, Caspersen C, Tacine R, Massinet H, Pennuto M, Chrétien D, Munnich A, Rötig A, Rizzuto R, Rutter GA, Paterlini-Bréchot P, Chami M.

Cell Death Differ. 2010 Dec;17(12):1855-66. doi: 10.1038/cdd.2010.51. Epub 2010 May 21.

40.

B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy.

Palazzolo I, Nedelsky NB, Askew CE, Harmison GG, Kasantsev AG, Taylor JP, Fischbeck KH, Pennuto M.

J Neurosci Res. 2010 Aug 1;88(10):2207-16. doi: 10.1002/jnr.22389.

41.

Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.

Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto M.

Neuron. 2009 Aug 13;63(3):316-28. doi: 10.1016/j.neuron.2009.07.019.

42.

Post-translational modifications of expanded polyglutamine proteins: impact on neurotoxicity.

Pennuto M, Palazzolo I, Poletti A.

Hum Mol Genet. 2009 Apr 15;18(R1):R40-7. doi: 10.1093/hmg/ddn412. Review.

43.

Mitochondrial abnormalities in spinal and bulbar muscular atrophy.

Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH.

Hum Mol Genet. 2009 Jan 1;18(1):27-42. doi: 10.1093/hmg/ddn310. Epub 2008 Sep 29.

44.

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice.

Pennuto M, Tinelli E, Malaguti M, Del Carro U, D'Antonio M, Ron D, Quattrini A, Feltri ML, Wrabetz L.

Neuron. 2008 Feb 7;57(3):393-405. doi: 10.1016/j.neuron.2007.12.021.

45.

Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity.

Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M.

Hum Mol Genet. 2007 Jul 1;16(13):1593-603. Epub 2007 Apr 30.

PMID:
17470458
46.

Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice.

Wrabetz L, D'Antonio M, Pennuto M, Dati G, Tinelli E, Fratta P, Previtali S, Imperiale D, Zielasek J, Toyka K, Avila RL, Kirschner DA, Messing A, Feltri ML, Quattrini A.

J Neurosci. 2006 Feb 22;26(8):2358-68.

47.

Taipoxin induces synaptic vesicle exocytosis and disrupts the interaction of synaptophysin I with VAMP2.

Bonanomi D, Pennuto M, Rigoni M, Rossetto O, Montecucco C, Valtorta F.

Mol Pharmacol. 2005 Jun;67(6):1901-8. Epub 2005 Feb 4.

PMID:
15695624
48.

Snake presynaptic neurotoxins with phospholipase A2 activity induce punctate swellings of neurites and exocytosis of synaptic vesicles.

Rigoni M, Schiavo G, Weston AE, Caccin P, Allegrini F, Pennuto M, Valtorta F, Montecucco C, Rossetto O.

J Cell Sci. 2004 Jul 15;117(Pt 16):3561-70. Epub 2004 Jun 29.

49.

Synaptophysin: leading actor or walk-on role in synaptic vesicle exocytosis?

Valtorta F, Pennuto M, Bonanomi D, Benfenati F.

Bioessays. 2004 Apr;26(4):445-53. Review.

PMID:
15057942
50.

Synaptophysin I controls the targeting of VAMP2/synaptobrevin II to synaptic vesicles.

Pennuto M, Bonanomi D, Benfenati F, Valtorta F.

Mol Biol Cell. 2003 Dec;14(12):4909-19. Epub 2003 Oct 3.

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