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Items: 10

1.
Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
Wei-Ting TU, Peng-Chieh CHEN, Ping-Chen HOU, Hsin-Yu HUANG, Jing-Yu WANG, Sheau-Chiou CHAO, Julia Yu-Yun LEE, John A. MCGRATH, Ken NATSUGA, Chao-Kai HSU
Acta Derm Venereol. 2020; 100(15): 5849. Published online 2020 Aug 18. doi: 10.2340/00015555-3600
PMCID:
PMC9207625
ArticlePDF–1015K
2.
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
ArticlePDF–2.0M
3.
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
ArticlePDF–1.5M
4.
Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
Hulya Gundesli, Beril Talim, Petek Korkusuz, Burcu Balci-Hayta, Sebahattin Cirak, Nurten A. Akarsu, Haluk Topaloglu, Pervin Dincer
Am J Hum Genet. 2010 Dec 10; 87(6): 834–841. doi: 10.1016/j.ajhg.2010.10.017
PMCID:
PMC2997373
ArticlePDF–945K
5.
Cloning and sequencing of rat plectin indicates a 466-kD polypeptide chain with a three-domain structure based on a central alpha-helical coiled coil
J Cell Biol. 1991 Jul 1; 114(1): 83–99. doi: 10.1083/jcb.114.1.83
PMCID:
PMC2289051
SummaryPDF–2.4M
6.
Epidermolysis Bullosa Simplex Associated with Pyloric Atresia Is a Novel Clinical Subtype Caused by Mutations in the Plectin Gene (PLEC1)
Hiroyuki Nakamura, Daisuke Sawamura, Maki Goto, Hideki Nakamura, James R. McMillan, Susam Park, Sumio Kono, Shiro Hasegawa, Son’e Paku, Tomohiko Nakamura, Yoshihumi Ogiso, Hiroshi Shimizu
J Mol Diagn. 2005 Feb; 7(1): 28–35. doi: 10.1016/S1525-1578(10)60005-0
PMCID:
PMC1867514
ArticlePDF–1.5M
7.
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
8.
High molecular weight polypeptides (270,000-340,000) from cultured cells are related to hog brain microtubule-associated proteins but copurify with intermediate filaments.
R Pytela, G Wiche
Proc Natl Acad Sci U S A. 1980 Aug; 77(8): 4808–4812. doi: 10.1073/pnas.77.8.4808
PMCID:
PMC349936
SummaryPage BrowsePDF–1.5M
9.
Multiple Variable First Exons: A Mechanism for Cell- and Tissue-Specific Gene Regulation
Theresa Zhang, Peter Haws, Qiang Wu
Genome Res. 2004 Jan; 14(1): 79–89. doi: 10.1101/gr.1225204
PMCID:
PMC314283
ArticlePDF–421K
10.
Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24).
C G Liu, C Maercker, M J Castañon, R Hauptmann, G Wiche
Proc Natl Acad Sci U S A. 1996 Apr 30; 93(9): 4278–4283. doi: 10.1073/pnas.93.9.4278
PMCID:
PMC39526
SummaryPage BrowsePDF–1.3M

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