Keratins and skin disease

Maria Knöbel; Edel A. O’Toole; Frances J. D. Smith

doi:10.1007/s00441-014-2105-4

Keratins and skin disease

Maria Knöbel
, Edel A. O’Toole
, Frances J. D. Smith (Lead / Corresponding author)

Research output: Contribution to journal › Article › peer-review

76 Citations (Scopus)

Abstract

Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell–cell adhesion. When normal tissue homeostasis is disturbed, for example, during wound healing and cancer, keratins play an important non-mechanical role. Post-translational modifications including glycosylation and phosphorylation of keratins play an important role in protection of epithelial cells from injury. Keratins also play a role in modulation of the immune response. A current focus in the area of keratins and disease is the development of new treatments including small inhibitory RNA (siRNA) to mutant keratins and small molecules to modulate keratin expression.

Original language	English
Pages (from-to)	583-589
Number of pages	7
Journal	Cell and Tissue Research
Volume	360
Issue number	3
Early online date	27 Jan 2015
DOIs	https://doi.org/10.1007/s00441-014-2105-4
Publication status	Published - Jun 2015

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Epidermolysis bullosa simplex
Genetics
Ichthyosis
Keratin
Pachyonychia
siRNA

ASJC Scopus subject areas

Pathology and Forensic Medicine
Cell Biology
Histology

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10.1007/s00441-014-2105-4

Cite this

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title = "Keratins and skin disease",

abstract = "Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell–cell adhesion. When normal tissue homeostasis is disturbed, for example, during wound healing and cancer, keratins play an important non-mechanical role. Post-translational modifications including glycosylation and phosphorylation of keratins play an important role in protection of epithelial cells from injury. Keratins also play a role in modulation of the immune response. A current focus in the area of keratins and disease is the development of new treatments including small inhibitory RNA (siRNA) to mutant keratins and small molecules to modulate keratin expression.",

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author = "Maria Kn{\"o}bel and O{\textquoteright}Toole, \{Edel A.\} and Smith, \{Frances J. D.\}",

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journal = "Cell and Tissue Research",

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TY - JOUR

T1 - Keratins and skin disease

AU - Knöbel, Maria

AU - O’Toole, Edel A.

AU - Smith, Frances J. D.

PY - 2015/6

Y1 - 2015/6

N2 - Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell–cell adhesion. When normal tissue homeostasis is disturbed, for example, during wound healing and cancer, keratins play an important non-mechanical role. Post-translational modifications including glycosylation and phosphorylation of keratins play an important role in protection of epithelial cells from injury. Keratins also play a role in modulation of the immune response. A current focus in the area of keratins and disease is the development of new treatments including small inhibitory RNA (siRNA) to mutant keratins and small molecules to modulate keratin expression.

AB - Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell–cell adhesion. When normal tissue homeostasis is disturbed, for example, during wound healing and cancer, keratins play an important non-mechanical role. Post-translational modifications including glycosylation and phosphorylation of keratins play an important role in protection of epithelial cells from injury. Keratins also play a role in modulation of the immune response. A current focus in the area of keratins and disease is the development of new treatments including small inhibitory RNA (siRNA) to mutant keratins and small molecules to modulate keratin expression.

KW - Epidermolysis bullosa simplex

KW - Genetics

KW - Ichthyosis

KW - Keratin

KW - Pachyonychia

KW - siRNA

UR - https://www.scopus.com/pages/publications/84930271250

U2 - 10.1007/s00441-014-2105-4

DO - 10.1007/s00441-014-2105-4

M3 - Article

C2 - 25620412

AN - SCOPUS:84930271250

SN - 0302-766X

VL - 360

SP - 583

EP - 589

JO - Cell and Tissue Research

JF - Cell and Tissue Research

IS - 3

ER -

Keratins and skin disease

Abstract

UN SDGs

Keywords

ASJC Scopus subject areas

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