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Titolo:
Expression of a truncated keratin 5 may contribute to severe palmar-plantar hyperkeratosis in epidermolysis bullosa simplex patients
Autore:
Livingston, RJ; Sybert, VP; Smith, LT; Dale, BA; Presland, RB; Stephens, K;
Indirizzi:
Univ Washington, Dept Pathol, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 , Dept Pathol, Seattle, WA 98195 USA Univ Washington, Dept Med, Seattle, WA USA Univ Washington Seattle WA USA niv Washington, Dept Med, Seattle, WA USA Univ Washington, Dept Oral Biol, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 ept Oral Biol, Seattle, WA 98195 USA Univ Washington, Dept Periodont & Biochem, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 ont & Biochem, Seattle, WA 98195 USA Univ Washington, Dept Lab Med, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 Dept Lab Med, Seattle, WA 98195 USA
Titolo Testata:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
fascicolo: 6, volume: 116, anno: 2001,
pagine: 970 - 974
SICI:
0022-202X(200106)116:6<970:EOATK5>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
HELIX TERMINATION PEPTIDE; DOWLING-MEARA; INTERMEDIATE FILAMENTS; EPIDERMAL DIFFERENTIATION; POINT MUTATIONS; CULTURED-CELLS; DOMAIN; DISEASE; GENE; PROTEINS;
Keywords:
keratin filaments; KLLEGE motif/KRTS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Stephens, K Univ Washington, Dept Pathol, 1959 NE Pacific St,Room 1-204, Seattle, WA 98195 USA Univ Washington 1959 NE Pacific St,Room 1-204 Seattle WA USA 98195
Citazione:
R.J. Livingston et al., "Expression of a truncated keratin 5 may contribute to severe palmar-plantar hyperkeratosis in epidermolysis bullosa simplex patients", J INVES DER, 116(6), 2001, pp. 970-974

Abstract

Epidermolysis bullosa simplex are dominant disorders of skin fragility characterized by intraepidermal blistering upon mild mechanical trauma. Skin fragility is caused by expression of either an abnormal keratin 5 or an abnormal keratin 14 protein, which compromises the structure and function of the keratin cytoskeleton of basal cells. We report an epidermolysis bullosa simplex patient with a novel single base substitution (A-->T1414) that changes the lysine residue at amino acid 472 to a non-sense codon (K472X). This change predicts the synthesis of a truncated keratin 5, missing 119 amino acids, including the entire tail domain and the highly conserved KLLEGE motif at the carboxy terminus of the 2B domain of the central rod. Expression of an altered keratin 5, of predicted mass and pi for the product of the K472X allele, was documented by one- and two-dimensional western blots of protein extracts from patient skin. Ultrastructural analysis of the patient's nonhyperkeratotic skin was remarkable for basal keratinocytes with dense andirregular keratin filaments proximal to the basement membrane. Keratinocytes, transfected with a cDNA carrying the A-->T1414 non-sense mutation, overexpressed a truncated keratin 5, and showed a disorganized and collapsed keratin filament cytoskeleton. This is the second epidermolysis bullosa simplex patient reported with a premature termination mutation in the KLLEGE motif. The remarkable occurrence of severe palmar-plantar hyperkeratosis in both patients suggests that the keratin 5 tail domain may have unrecognized, but important, normal functions in palmar-plantar tissues.

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Documento generato il 27/11/20 alle ore 01:20:06