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Items: 1 to 20 of 134

1.

The many faces of plectin and plectinopathies: pathology and mechanisms.

Winter L, Wiche G.

Acta Neuropathol. 2013 Jan;125(1):77-93. doi: 10.1007/s00401-012-1026-0. Epub 2012 Aug 3. Review.

PMID:
22864774
2.

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R.

Acta Neuropathol Commun. 2016 Apr 27;4(1):44. doi: 10.1186/s40478-016-0314-7.

3.

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.

Schröder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Fürst DO, Blümcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A.

J Neuropathol Exp Neurol. 2002 Jun;61(6):520-30.

PMID:
12071635
4.

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

McMillan JR, Akiyama M, Rouan F, Mellerio JE, Lane EB, Leigh IM, Owaribe K, Wiche G, Fujii N, Uitto J, Eady RA, Shimizu H.

Muscle Nerve. 2007 Jan;35(1):24-35.

PMID:
16967486
5.

Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.

Natsuga K, Nishie W, Shinkuma S, Arita K, Nakamura H, Ohyama M, Osaka H, Kambara T, Hirako Y, Shimizu H.

Hum Mutat. 2010 Oct;31(10):E1687-98. doi: 10.1002/humu.21330.

6.

Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna.

Walko G, Vukasinovic N, Gross K, Fischer I, Sibitz S, Fuchs P, Reipert S, Jungwirth U, Berger W, Salzer U, Carugo O, Castañón MJ, Wiche G.

PLoS Genet. 2011 Dec;7(12):e1002396. doi: 10.1371/journal.pgen.1002396. Epub 2011 Dec 1.

7.

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.

Gache Y, Chavanas S, Lacour JP, Wiche G, Owaribe K, Meneguzzi G, Ortonne JP.

J Clin Invest. 1996 May 15;97(10):2289-98.

8.

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.

Shimizu H, Takizawa Y, Pulkkinen L, Murata S, Kawai M, Hachisuka H, Udono M, Uitto J, Nishikawa T.

J Am Acad Dermatol. 1999 Dec;41(6):950-6. Review.

PMID:
10570379
9.

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.

Gostyńska KB, Nijenhuis M, Lemmink H, Pas HH, Pasmooij AM, Lang KK, Castañón MJ, Wiche G, Jonkman MF.

Hum Mol Genet. 2015 Jun 1;24(11):3155-62. doi: 10.1093/hmg/ddv066. Epub 2015 Feb 24.

PMID:
25712130
10.

Epidermolysis bullosa simplex with muscular dystrophy.

Chiavérini C, Charlesworth A, Meneguzzi G, Lacour JP, Ortonne JP.

Dermatol Clin. 2010 Apr;28(2):245-55, viii. doi: 10.1016/j.det.2010.01.001. Review.

PMID:
20447487
11.

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

Forrest K, Mellerio JE, Robb S, Dopping-Hepenstal PJ, McGrath JA, Liu L, Buk SJ, Al-Sarraj S, Wraige E, Jungbluth H.

Neuromuscul Disord. 2010 Nov;20(11):709-11. doi: 10.1016/j.nmd.2010.06.003. Epub 2010 Jul 10.

PMID:
20624679
12.

Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.

Winter L, Kuznetsov AV, Grimm M, Zeöld A, Fischer I, Wiche G.

Hum Mol Genet. 2015 Aug 15;24(16):4530-44. doi: 10.1093/hmg/ddv184. Epub 2015 May 27.

13.

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture.

Andrä K, Lassmann H, Bittner R, Shorny S, Fässler R, Propst F, Wiche G.

Genes Dev. 1997 Dec 1;11(23):3143-56.

14.

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.

Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H.

Hum Mutat. 2010 Mar;31(3):308-16. doi: 10.1002/humu.21189.

PMID:
20052759
15.

Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle.

Winter L, Staszewska I, Mihailovska E, Fischer I, Goldmann WH, Schröder R, Wiche G.

J Clin Invest. 2014 Mar;124(3):1144-57.

16.

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.

Chavanas S, Pulkkinen L, Gache Y, Smith FJ, McLean WH, Uitto J, Ortonne JP, Meneguzzi G.

J Clin Invest. 1996 Nov 15;98(10):2196-200.

17.

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.

Pulkkinen L, Smith FJ, Shimizu H, Murata S, Yaoita H, Hachisuka H, Nishikawa T, McLean WH, Uitto J.

Hum Mol Genet. 1996 Oct;5(10):1539-46.

PMID:
8894687
18.

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.

Koss-Harnes D, Høyheim B, Jonkman MF, de Groot WP, de Weerdt CJ, Nikolic B, Wiche G, Gedde-Dahl T Jr.

Acta Derm Venereol. 2004;84(2):124-31.

PMID:
15206692
19.

Plectin-related skin diseases.

Natsuga K.

J Dermatol Sci. 2015 Mar;77(3):139-45. doi: 10.1016/j.jdermsci.2014.11.005. Epub 2014 Nov 28. Review.

PMID:
25530118
20.

Plectin isoform 1-dependent nuclear docking of desmin networks affects myonuclear architecture and expression of mechanotransducers.

Staszewska I, Fischer I, Wiche G.

Hum Mol Genet. 2015 Dec 20;24(25):7373-89. doi: 10.1093/hmg/ddv438. Epub 2015 Oct 20.

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