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Items: 1 to 20 of 23

1.
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.
Y Gache, S Chavanas, J P Lacour, G Wiche, K Owaribe, G Meneguzzi, J P Ortonne
J Clin Invest. 1996 May 15; 97(10): 2289–2298. doi: 10.1172/JCI118671
PMCID:
PMC507309
SummaryPDF–1.1M
2.
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.
S Chavanas, L Pulkkinen, Y Gache, F J Smith, W H McLean, J Uitto, J P Ortonne, G Meneguzzi
J Clin Invest. 1996 Nov 15; 98(10): 2196–2200. doi: 10.1172/JCI119028
PMCID:
PMC507667
SummaryPDF–170K
3.
A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C. Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira
BMC Dermatol. 2018; 18: 1. Published online 2018 Jan 20. doi: 10.1186/s12895-018-0069-x
PMCID:
PMC5775598
AbstractArticlePDF–1.4M
4.
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report
Jana Kyrova, Lenka Kopeckova, Hana Buckova, Lenka Mrazova, Karel Vesely, Marketa Hermanova, Hana Oslejskova, Lenka Fajkusova
J Dermatol Case Rep. 2016 Nov 30; 10(3): 39–48. Published online 2016 Nov 30. doi: 10.3315/jdcr.2016.1231
PMCID:
PMC5385263
AbstractArticlePDF–1.2M
5.
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation
Valeria Carolina Alvarez, Sini Tellervo Penttilä, Valeria Luján Salutto, Bjarne Udd, Claudio Gabriel Mazia
Neurol Genet. 2016 Dec; 2(6): e109. Published online 2016 Oct 11. doi: 10.1212/NXG.0000000000000109
PMCID:
PMC5061415
ArticlePDF–94K
6.
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy
Lilli Winter, Matthias Türk, Patrick N. Harter, Michel Mittelbronn, Cornelia Kornblum, Fiona Norwood, Heinz Jungbluth, Christian T. Thiel, Ursula Schlötzer-Schrehardt, Rolf Schröder
Acta Neuropathol Commun. 2016; 4: 44. Published online 2016 Apr 27. doi: 10.1186/s40478-016-0314-7
PMCID:
PMC4847350
AbstractArticlePDF–3.1M
7.
Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants
Lucía Martínez-Santamaría, Rocío Maseda, María del Carmen de Arriba, Javier A. Membrilla, Alberto Iglesias Sigüenza, Javier Mascías, Marta García, Lucía Quintana, Isabel Esteban-Rodríguez, Carlos Pelayo Hernández-Fernández, Nuria Illera, Blanca Duarte, Sara Guerrero-Aspizúa, David T. Woodley, Marcela del Río, Raúl de Lucas, Fernando Larcher, María José Escámez
JAMA Dermatol. 2022 Apr; 158(4): 439–443. Published online 2022 Mar 2. doi: 10.1001/jamadermatol.2022.0112
PMCID:
PMC8892370
AbstractArticle
8.
Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex
Ken Natsuga, Wataru Nishie, Satoru Shinkuma, Ken Arita, Hideki Nakamura, Makiko Ohyama, Hitoshi Osaka, Takeshi Kambara, Yoshiaki Hirako, Hiroshi Shimizu
Hum Mutat. 2010 Oct; 31(10): E1687–E1698. doi: 10.1002/humu.21330
PMCID:
PMC3023027
AbstractArticlePDF–477K
9.
Myasthenic syndrome caused by plectinopathy
D. Selcen, V.C. Juel, L.D. Hobson-Webb, E.C. Smith, D.E. Stickler, A.V. Bite, K. Ohno, A.G. Engel
Neurology. 2011 Jan 25; 76(4): 327–336. doi: 10.1212/WNL.0b013e31820882bd
PMCID:
PMC3034415
AbstractArticlePDF–1.5M
10.
Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle
Lilli Winter, Ilona Staszewska, Eva Mihailovska, Irmgard Fischer, Wolfgang H. Goldmann, Rolf Schröder, Gerhard Wiche
J Clin Invest. 2014 Mar 3; 124(3): 1144–1157. Published online 2014 Feb 3. doi: 10.1172/JCI71919
PMCID:
PMC3934181
AbstractArticlePDF–6.4M
11.
Determining the mechanical properties of plectin in mouse myoblasts and keratinocytes
Navid Bonakdar, Achim Schilling, Marina Spörrer, Pablo Lennert, Astrid Mainka, Lilli Winter, Gernot Walko, Gerhard Wiche, Ben Fabry, Wolfgang H. Goldmann
Exp Cell Res. 2015 Feb 15; 331(2): 331–337. doi: 10.1016/j.yexcr.2014.10.001
PMCID:
PMC4325136
AbstractArticle
12.
Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle
Lilli Winter, Andrey V. Kuznetsov, Michael Grimm, Anikó Zeöld, Irmgard Fischer, Gerhard Wiche
Hum Mol Genet. 2015 Aug 15; 24(16): 4530–4544. Published online 2015 May 27. doi: 10.1093/hmg/ddv184
PMCID:
PMC4512624
AbstractArticlePDF–2.0M
13.
The rod domain is not essential for the function of plectin in maintaining tissue integrity
Mirjam Ketema, Pablo Secades, Maaike Kreft, Leila Nahidiazar, Hans Janssen, Kees Jalink, Jose M. de Pereda, Arnoud Sonnenberg
Mol Biol Cell. 2015 Jul 1; 26(13): 2402–2417. doi: 10.1091/mbc.E15-01-0043
PMCID:
PMC4571296
AbstractArticlePDF–2.5M
14.
Plectin isoform 1-dependent nuclear docking of desmin networks affects myonuclear architecture and expression of mechanotransducers
Ilona Staszewska, Irmgard Fischer, Gerhard Wiche
Hum Mol Genet. 2015 Dec 20; 24(25): 7373–7389. Published online 2015 Oct 20. doi: 10.1093/hmg/ddv438
PMCID:
PMC4664173
AbstractArticlePDF–1.5M
15.
Identifying Plectin Isoform Functions through Animal Models
Maria J. Castañón, Gerhard Wiche
Cells. 2021 Sep; 10(9): 2453. Published online 2021 Sep 17. doi: 10.3390/cells10092453
PMCID:
PMC8468861
AbstractArticlePDF–1.3M
16.
Mutation Update: The Spectra of PLEC Sequence Variants and Related Plectinopathies
Hassan Vahidnezhad, Leila Youssefian, Nailah Harvey, Ali Reza Tavasoli, Amir Hossein Saeidian, Soheila Sotoudeh, Aida Varghaei, Hamidreza Mahmoudi, Parvin Mansouri, Nikoo Mozafari, Omid Zargari, Sirous Zeinali, Jouni Uitto
Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 1706–1731. Published online 2022 Jul 29. doi: 10.1002/humu.24434
PMCID:
PMC9771971
AbstractArticlePDF–1.1M
17.
Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn–plectin 1f complexes
Eva Mihailovska, Marianne Raith, Rocio G. Valencia, Irmgard Fischer, Mumna Al Banchaabouchi, Ruth Herbst, Gerhard Wiche
Mol Biol Cell. 2014 Dec 15; 25(25): 4130–4149. doi: 10.1091/mbc.E14-06-1174
PMCID:
PMC4263455
AbstractArticlePDF–10M
18.
Muscle-Related Plectinopathies
Michaela M. Zrelski, Monika Kustermann, Lilli Winter
Cells. 2021 Sep; 10(9): 2480. Published online 2021 Sep 19. doi: 10.3390/cells10092480
PMCID:
PMC8466646
AbstractArticlePDF–4.5M
19.
Binding of Integrin α6β4 to Plectin Prevents Plectin Association with F-Actin but Does Not Interfere with Intermediate Filament Binding
Dirk Geerts, Lionel Fontao, Mirjam G. Nievers, Roel Q.J. Schaapveld, Patricia E. Purkis, Grant N. Wheeler, E. Birgitte Lane, Irene M. Leigh, Arnoud Sonnenberg
J Cell Biol. 1999 Oct 18; 147(2): 417–434. doi: 10.1083/jcb.147.2.417
PMCID:
PMC2174221
AbstractArticlePDF–952K
20.
Targeted Proteolysis of Plectin Isoform 1a Accounts for Hemidesmosome Dysfunction in Mice Mimicking the Dominant Skin Blistering Disease EBS-Ogna
Gernot Walko, Nevena Vukasinovic, Karin Gross, Irmgard Fischer, Sabrina Sibitz, Peter Fuchs, Siegfried Reipert, Ute Jungwirth, Walter Berger, Ulrich Salzer, Oliviero Carugo, Maria J. Castañón, Gerhard Wiche
PLoS Genet. 2011 Dec; 7(12): e1002396. Published online 2011 Dec 1. doi: 10.1371/journal.pgen.1002396
PMCID:
PMC3228830
AbstractArticlePDF–5.5M

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