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

被引：0

作者：

Lilli Winter

Matthias Türk

Patrick N. Harter

Michel Mittelbronn

Cornelia Kornblum

Fiona Norwood

Heinz Jungbluth

Christian T. Thiel

Ursula Schlötzer-Schrehardt

Rolf Schröder

机构：

[1] Institute of Neuropathology,Department of Neurology

[2] Friedrich-Alexander University Erlangen-Nürnberg (FAU),Department of Neurology

[3] Friedrich-Alexander University Erlangen-Nürnberg (FAU),Department of Neurology

[4] Institute of Neurology (Edinger Institute),Department of Paediatric Neurology

[5] Goethe University Frankfurt,Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section

[6] University Hospital of Bonn,Department of Basic and Clinical Neuroscience

[7] Center for Rare Diseases Bonn (ZSEB),Department of Opthalmology

[8] University Hospital of Bonn,undefined

[9] Ruskin Wing,undefined

[10] King’s College Hospital,undefined

[11] Neuromuscular Service,undefined

[12] Evelina Children’s Hospital,undefined

[13] St Thomas’ Hospital,undefined

[14] King’s College,undefined

[15] IoPPN,undefined

[16] King’s College,undefined

[17] Institute of Human Genetics,undefined

[18] Friedrich-Alexander University Erlangen-Nürnberg (FAU),undefined

[19] Friedrich-Alexander University Erlangen-Nürnberg (FAU),undefined

来源：

Acta Neuropathologica Communications | / 4卷

关键词：

Plectin; Epidermolysis bullosa simplex with muscular dystrophy; Skeletal muscle; Intermediate filaments; Mitochondria; Desmin; Protein aggregates;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Mutations of the human plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). In the present study we analyzed the downstream effects of PLEC mutations on plectin protein expression and localization, the structure of the extrasarcomeric desmin cytoskeleton, protein aggregate formation and mitochondrial distribution in skeletal muscle tissue from three EBS-MD patients.

引用

共 50 条

[1] Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy
Winter, Lilli
Tuerk, Matthias
Harter, Patrick N.
Mittelbronn, Michel
Kornblum, Cornelia
Norwood, Fiona
Jungbluth, Heinz
Thiel, Christian T.
Schloetzer-Schrehardt, Ursula
Schroeder, Rolf
ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2016, 4
[2] Plectin defects in epidermolysis bullosa simplex with muscular dystrophy
McMillan, J. R.
Akiyama, M.
Rouan, F.
Mellerio, J. E.
Lane, E. B.
Leigh, I. M.
Owaribe, K.
Wiche, G.
Fujii, N.
Uitto, J.
Eady, R. A. J.
Shimizu, H.
MUSCLE & NERVE, 2007, 35 (01) : 24 - 35
[3] Plectin mutations underlie epidermolysis bullosa with muscular dystrophy.
Pulkkinen, L
Smith, FJD
McLean, WHI
Lane, EB
Leigh, IM
Eady, RAJ
McGrath, J
Christiano, AM
Murata, S
Yaoita, H
Hatchisuka, H
Shimizu, H
Nishikawa, T
Uitto, J
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (03) : 197 - 197
[4] Defective expression of plectin in epidermolysis bullosa simplex with muscular dystrophy.
Gache, Y
Chavanas, S
Lacour, JP
Wiche, G
Owaribe, K
Meneguzzi, G
Ortonne, JP
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (04) : 222 - 222
[5] Mutations in the plectin gene cause epidermolysis bullosa with muscular dystrophy.
McLean, WHI
Pulkkinen, L
Smith, FJD
Rugg, EL
Bullrich, F
Burgeson, RE
Amano, S
Hudson, DL
Owaribe, K
McGrath, JA
Eady, RAJ
Leigh, IM
Lane, EB
Christiano, AM
Uitto, J
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (01) : HB10 - HB10
[6] Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
Smith, FJD
Eady, RAJ
Leigh, IM
McMillan, JR
Rugg, EL
Kelsell, DP
Bryant, SP
Spurr, NK
Geddes, JF
Kirtschig, G
Milana, G
deBono, AG
Owaribe, K
Wiche, G
Pulkkinen, L
Uitto, J
McLean, WHI
Lane, EB
NATURE GENETICS, 1996, 13 (04) : 450 - 457
[7] Epidermolysis Bullosa Simplex with Muscular Dystrophy
Chiaverini, C.
Charlesworth, A.
Meneguzzi, G.
Lacour, J. P.
Ortonne, J. P.
DERMATOLOGIC CLINICS, 2010, 28 (02) : 245 - +
[8] Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy
Takahashi, Y
Rouan, F
Uitto, J
Ishida-Yamamoto, A
Iizuka, H
Owaribe, K
Tanigawa, M
Ishii, N
Yasumoto, S
Hashimoto, T
JOURNAL OF DERMATOLOGICAL SCIENCE, 2005, 37 (02) : 87 - 93
[9] Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex
Natsuga, Ken
Nishie, Wataru
Shinkuma, Satoru
Arita, Ken
Nakamura, Hideki
Ohyama, Makiko
Osaka, Hitoshi
Kambara, Takeshi
Hirako, Yoshiaki
Shimizu, Hiroshi
HUMAN MUTATION, 2010, 31 (10) : E1687 - E1698
[10] Epidermolysis bullosa simplex with muscular dystrophy: Loss of plectin expression in skin and muscle.
Eady, RAJ
Leigh, IM
McMillan, JR
Geddes, JF
Kirtschig, G
Kelsell, DP
Spurr, NK
McLean, WHI
Owaribe, K
Wiche, G
Lane, EB
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (04) : 221 - 221

← 1 2 3 4 5 →