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Items: 1 to 50 of 124

1.

Multimerin-2 maintains vascular stability and permeability.

Pellicani R, Poletto E, Andreuzzi E, Paulitti A, Doliana R, Bizzotto D, Braghetta P, Colladel R, Tarticchio G, Sabatelli P, Bucciotti F, Bressan G, Iozzo RV, Colombatti A, Bonaldo P, Mongiat M.

Matrix Biol. 2019 Aug 15. pii: S0945-053X(19)30295-1. doi: 10.1016/j.matbio.2019.08.002. [Epub ahead of print]

2.

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.

Merlini L, Sabatelli P, Antoniel M, Carinci V, Niro F, Monetti G, Torella A, Giugliano T, Faldini C, Nigro V.

Skelet Muscle. 2019 May 27;9(1):14. doi: 10.1186/s13395-019-0199-9.

3.

The epg5 knockout zebrafish line: a model to study Vici syndrome.

Meneghetti G, Skobo T, Chrisam M, Facchinello N, Fontana CM, Bellesso S, Sabatelli P, Raggi F, Cecconi F, Bonaldo P, Dalla Valle L.

Autophagy. 2019 Aug;15(8):1438-1454. doi: 10.1080/15548627.2019.1586247. Epub 2019 Mar 17.

PMID:
30806141
4.

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A.

Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018.

5.

Integrin binding site within the gC1q domain orchestrates EMILIN-1-induced lymphangiogenesis.

Capuano A, Pivetta E, Baldissera F, Bosisio G, Wassermann B, Bucciotti F, Colombatti A, Sabatelli P, Doliana R, Spessotto P.

Matrix Biol. 2019 Aug;81:34-49. doi: 10.1016/j.matbio.2018.10.006. Epub 2018 Oct 26.

6.

A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt signalling and miRNA dysregulation.

Calore M, Lorenzon A, Vitiello L, Poloni G, Khan MAF, Beffagna G, Dazzo E, Sacchetto C, Polishchuk R, Sabatelli P, Doliana R, Carnevale D, Lembo G, Bonaldo P, De Windt L, Braghetta P, Rampazzo A.

Cardiovasc Res. 2019 Mar 15;115(4):739-751. doi: 10.1093/cvr/cvy253.

PMID:
30304392
7.

Collagen VI is required for the structural and functional integrity of the neuromuscular junction.

Cescon M, Gregorio I, Eiber N, Borgia D, Fusto A, Sabatelli P, Scorzeto M, Megighian A, Pegoraro E, Hashemolhosseini S, Bonaldo P.

Acta Neuropathol. 2018 Sep;136(3):483-499. doi: 10.1007/s00401-018-1860-9. Epub 2018 May 11.

PMID:
29752552
8.

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

Bernasconi P, Carboni N, Ricci G, Siciliano G, Politano L, Maggi L, Mongini T, Vercelli L, Rodolico C, Biagini E, Boriani G, Ruggiero L, Santoro L, Schena E, Prencipe S, Evangelisti C, Pegoraro E, Morandi L, Columbaro M, Lanzuolo C, Sabatelli P, Cavalcante P, Cappelletti C, Bonne G, Muchir A, Lattanzi G.

Nucleus. 2018 Jan 1;9(1):292-304. doi: 10.1080/19491034.2018.1467722.

9.

Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy.

Schiavone M, Zulian A, Menazza S, Petronilli V, Argenton F, Merlini L, Sabatelli P, Bernardi P.

Pharmacol Res. 2017 Nov;125(Pt B):122-131. doi: 10.1016/j.phrs.2017.09.001. Epub 2017 Sep 9.

PMID:
28899790
10.

TGF-β1 differentially modulates the collagen VI α5 and α6 chains in human tendon cultures.

Sabatelli P, Sardone F, Traina F, Merlini L, Santi S, Wagener R, Faldini C.

J Biol Regul Homeost Agents. 2016 Oct-Dec;30(4 Suppl 1):107-113.

PMID:
28002907
11.

Collagen VI-NG2 axis in human tendon fibroblasts under conditions mimicking injury response.

Sardone F, Santi S, Tagliavini F, Traina F, Merlini L, Squarzoni S, Cescon M, Wagener R, Maraldi NM, Bonaldo P, Faldini C, Sabatelli P.

Matrix Biol. 2016 Sep;55:90-105. doi: 10.1016/j.matbio.2016.02.012. Epub 2016 Mar 2.

12.

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.

Castagnaro S, Pellegrini C, Pellegrini M, Chrisam M, Sabatelli P, Toni S, Grumati P, Ripamonti C, Pratelli L, Maraldi NM, Cocchi D, Righi V, Faldini C, Sandri M, Bonaldo P, Merlini L.

Autophagy. 2016 Dec;12(12):2484-2495. Epub 2016 Sep 22.

13.

Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy.

Sardone F, Traina F, Bondi A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P.

Front Aging Neurosci. 2016 Jun 8;8:131. doi: 10.3389/fnagi.2016.00131. eCollection 2016.

14.

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.

Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A.

J Cell Sci. 2016 Apr 15;129(8):1671-84. doi: 10.1242/jcs.175927. Epub 2016 Mar 4.

15.

Improving clinical trial design for Duchenne muscular dystrophy.

Merlini L, Sabatelli P.

BMC Neurol. 2015 Aug 26;15:153. doi: 10.1186/s12883-015-0408-z.

16.

Detecting collagen VI in Bethlem myopathy.

Sabatelli P, Gualandi F, Bonaldo P, Merlini L.

J Biol Chem. 2015 Mar 20;290(12):8011. doi: 10.1074/jbc.L115.639088. No abstract available.

17.

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors.

Zulian A, Tagliavini F, Rizzo E, Pellegrini C, Sardone F, Zini N, Maraldi NM, Santi S, Faldini C, Merlini L, Petronilli V, Bernardi P, Sabatelli P.

Front Aging Neurosci. 2014 Nov 20;6:324. doi: 10.3389/fnagi.2014.00324. eCollection 2014.

18.

Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene.

Sabatelli P, Castagnaro S, Tagliavini F, Chrisam M, Sardone F, Demay L, Richard P, Santi S, Maraldi NM, Merlini L, Sandri M, Bonaldo P.

Front Aging Neurosci. 2014 Aug 19;6:215. doi: 10.3389/fnagi.2014.00215. eCollection 2014.

19.

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies.

Sorato E, Menazza S, Zulian A, Sabatelli P, Gualandi F, Merlini L, Bonaldo P, Canton M, Bernardi P, Di Lisa F.

Free Radic Biol Med. 2014 Oct;75:40-7. doi: 10.1016/j.freeradbiomed.2014.07.006. Epub 2014 Jul 10.

20.

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.

Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P.

Biochim Biophys Acta. 2014 Sep;1842(9):1604-12. doi: 10.1016/j.bbadis.2014.05.033. Epub 2014 Jun 5.

21.

NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.

Zulian A, Rizzo E, Schiavone M, Palma E, Tagliavini F, Blaauw B, Merlini L, Maraldi NM, Sabatelli P, Braghetta P, Bonaldo P, Argenton F, Bernardi P.

Hum Mol Genet. 2014 Oct 15;23(20):5353-63. doi: 10.1093/hmg/ddu254. Epub 2014 May 22.

PMID:
24852368
22.

Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies.

Tagliavini F, Sardone F, Squarzoni S, Maraldi NM, Merlini L, Faldini C, Sabatelli P.

Muscles Ligaments Tendons J. 2014 Feb 24;3(4):281-6. eCollection 2013 Oct.

23.

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice.

Falzarano MS, Passarelli C, Bassi E, Fabris M, Perrone D, Sabatelli P, Maraldi NM, Donà S, Selvatici R, Bonaldo P, Sparnacci K, Laus M, Braghetta P, Rimessi P, Ferlini A.

Biomed Res Int. 2013;2013:527418. doi: 10.1155/2013/527418. Epub 2013 Dec 12.

24.

Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts.

Sardone F, Traina F, Tagliavini F, Pellegrini C, Merlini L, Squarzoni S, Santi S, Neri S, Faldini C, Maraldi N, Sabatelli P.

J Cell Physiol. 2014 Jul;229(7):878-86. doi: 10.1002/jcp.24518.

PMID:
24356950
25.

EMILIN1/α9β1 integrin interaction is crucial in lymphatic valve formation and maintenance.

Danussi C, Del Bel Belluz L, Pivetta E, Modica TM, Muro A, Wassermann B, Doliana R, Sabatelli P, Colombatti A, Spessotto P.

Mol Cell Biol. 2013 Nov;33(22):4381-94. doi: 10.1128/MCB.00872-13. Epub 2013 Sep 9.

26.

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.

Martoni E, Petrini S, Trabanelli C, Sabatelli P, Urciuolo A, Selvatici R, D'Amico A, Falzarano S, Bertini E, Bonaldo P, Ferlini A, Gualandi F.

BMC Med Genet. 2013 Jun 5;14:59. doi: 10.1186/1471-2350-14-59.

27.

Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy.

Pellegrini C, Zulian A, Gualandi F, Manzati E, Merlini L, Michelini ME, Benassi L, Marmiroli S, Ferlini A, Sabatelli P, Bernardi P, Maraldi NM.

J Cell Physiol. 2013 Jun;228(6):1323-31. doi: 10.1002/jcp.24290.

28.

Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers.

Sabatelli P, Pellegrini C, Faldini C, Merlini L.

Neurol India. 2012 Sep-Oct;60(5):510-1. doi: 10.4103/0028-3886.103200.

29.

Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice.

Bassi E, Falzarano S, Fabris M, Gualandi F, Merlini L, Vattemi G, Perrone D, Marchesi E, Sabatelli P, Sparnacci K, Laus M, Bonaldo P, Rimessi P, Braghetta P, Ferlini A.

J Biomed Biotechnol. 2012;2012:897076. doi: 10.1155/2012/897076. Epub 2012 Oct 2.

30.

Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy.

Gualandi F, Manzati E, Sabatelli P, Passarelli C, Bovolenta M, Pellegrini C, Perrone D, Squarzoni S, Pegoraro E, Bonaldo P, Ferlini A.

Hum Gene Ther. 2012 Dec;23(12):1313-8. doi: 10.1089/hum.2012.109. Epub 2012 Nov 6.

31.

Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling.

Paco S, Ferrer I, Jou C, Cusí V, Corbera J, Torner F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento A, Jimenez-Mallebrera C.

J Neuropathol Exp Neurol. 2012 Oct;71(10):894-906.

PMID:
22975586
32.

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A.

BMC Med Genet. 2012 Aug 16;13:73.

33.

Vascular smooth muscle Emilin-1 is a regulator of arteriolar myogenic response and blood pressure.

Litteri G, Carnevale D, D'Urso A, Cifelli G, Braghetta P, Damato A, Bizzotto D, Landolfi A, Ros FD, Sabatelli P, Facchinello N, Maffei A, Volpin D, Colombatti A, Bressan GM, Lembo G.

Arterioscler Thromb Vasc Biol. 2012 Sep;32(9):2178-84. doi: 10.1161/ATVBAHA.112.254664. Epub 2012 Jul 19.

PMID:
22814752
34.

Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.

Sabatelli P, Gualandi F, Gara SK, Grumati P, Zamparelli A, Martoni E, Pellegrini C, Merlini L, Ferlini A, Bonaldo P, Maraldi NM, Paulsson M, Squarzoni S, Wagener R.

Matrix Biol. 2012 Apr;31(3):187-96. doi: 10.1016/j.matbio.2011.12.003. Epub 2011 Dec 30.

35.

Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.

Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, Michelini ME, Franchella A, Gualandi F, Bertini E, Maraldi NM, Ferlini A, Bonaldo P, Bernardi P.

Oxid Med Cell Longev. 2011;2011:139194. doi: 10.1155/2011/139194. Epub 2011 Oct 17.

36.

Properties of Ca(2+) transport in mitochondria of Drosophila melanogaster.

von Stockum S, Basso E, Petronilli V, Sabatelli P, Forte MA, Bernardi P.

J Biol Chem. 2011 Dec 2;286(48):41163-70. doi: 10.1074/jbc.M111.268375. Epub 2011 Oct 7.

37.

Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies.

Sabatelli P, Palma E, Angelin A, Squarzoni S, Urciuolo A, Pellegrini C, Tiepolo T, Bonaldo P, Gualandi F, Merlini L, Bernardi P, Maraldi NM.

J Cell Physiol. 2012 Jul;227(7):2927-35. doi: 10.1002/jcp.23039.

38.

Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.

Gualandi F, Curci R, Sabatelli P, Martoni E, Bovolenta M, Maraldi MN, Merlini L, Ferlini AA.

Muscle Nerve. 2011 Jul;44(1):80-4. doi: 10.1002/mus.21999. Epub 2011 Apr 12.

PMID:
21488057
39.

Differential and restricted expression of novel collagen VI chains in mouse.

Gara SK, Grumati P, Squarzoni S, Sabatelli P, Urciuolo A, Bonaldo P, Paulsson M, Wagener R.

Matrix Biol. 2011 May;30(4):248-57. doi: 10.1016/j.matbio.2011.03.006. Epub 2011 Apr 6.

PMID:
21477648
40.

Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration.

Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, Blaauw B, Urciuolo A, Tiepolo T, Merlini L, Maraldi NM, Bernardi P, Sandri M, Bonaldo P.

Nat Med. 2010 Nov;16(11):1313-20. doi: 10.1038/nm.2247. Epub 2010 Oct 31.

PMID:
21037586
41.

Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.

Sabatelli P, Gara SK, Grumati P, Urciuolo A, Gualandi F, Curci R, Squarzoni S, Zamparelli A, Martoni E, Merlini L, Paulsson M, Bonaldo P, Wagener R.

J Invest Dermatol. 2011 Jan;131(1):99-107. doi: 10.1038/jid.2010.284. Epub 2010 Sep 30.

42.

Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model.

Heemskerk H, de Winter C, van Kuik P, Heuvelmans N, Sabatelli P, Rimessi P, Braghetta P, van Ommen GJ, de Kimpe S, Ferlini A, Aartsma-Rus A, van Deutekom JC.

Mol Ther. 2010 Jun;18(6):1210-7. doi: 10.1038/mt.2010.72. Epub 2010 Apr 20.

43.

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.

Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F.

BMC Med Genet. 2010 Mar 19;11:44. doi: 10.1186/1471-2350-11-44.

44.

The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

Massa R, Panico MB, Caldarola S, Fusco FR, Sabatelli P, Terracciano C, Botta A, Novelli G, Bernardi G, Loreni F.

Neuropathol Appl Neurobiol. 2010 Jun;36(4):275-84. doi: 10.1111/j.1365-2990.2010.01068.x. Epub 2009 Nov 20.

PMID:
20102514
45.

Autosomal recessive Bethlem myopathy.

Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L.

Neurology. 2009 Dec 1;73(22):1883-91. doi: 10.1212/WNL.0b013e3181c3fd2a.

PMID:
19949035
46.

Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes.

Ferlini A, Sabatelli P, Fabris M, Bassi E, Falzarano S, Vattemi G, Perrone D, Gualandi F, Maraldi NM, Merlini L, Sparnacci K, Laus M, Caputo A, Bonaldo P, Braghetta P, Rimessi P.

Gene Ther. 2010 Mar;17(3):432-8. doi: 10.1038/gt.2009.145. Epub 2009 Nov 12.

PMID:
19907501
47.

The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.

Tiepolo T, Angelin A, Palma E, Sabatelli P, Merlini L, Nicolosi L, Finetti F, Braghetta P, Vuagniaux G, Dumont JM, Baldari CT, Bonaldo P, Bernardi P.

Br J Pharmacol. 2009 Jul;157(6):1045-52. doi: 10.1111/j.1476-5381.2009.00316.x. Epub 2009 Jun 10.

48.

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F.

Hum Mutat. 2009 May;30(5):E662-72. doi: 10.1002/humu.21022.

PMID:
19309692
49.

Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice.

Palma E, Tiepolo T, Angelin A, Sabatelli P, Maraldi NM, Basso E, Forte MA, Bernardi P, Bonaldo P.

Hum Mol Genet. 2009 Jun 1;18(11):2024-31. doi: 10.1093/hmg/ddp126. Epub 2009 Mar 17.

PMID:
19293339
50.

On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al.

Bernardi P, Bonaldo P, Maraldi NM, Merlini L, Sabatelli P.

Brain. 2009 Oct;132(Pt 10):e121; author reply e122. doi: 10.1093/brain/awp021. Epub 2009 Mar 17. No abstract available.

PMID:
19293242

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