Proteomics

Dataset Information

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Effects of 4-phenylbutyrate on human keratinocytes

ABSTRACT: Keratins 5 and 14 are critical for cytoskeletal integrity, as shown by missense mutations in these genes, which cause the severe skin fragility disorder epidermolysis bullosa simplex (EBS). The complexity of the pathomechanisms in EBS is not fully understood and no effective management exists. In addition to fragility, EBS keratinocytes are characterized by aggregates of misfolded keratin. Here, we tested the chemical chaperone 4-phenylbutyrate (4-PBA) as a putative novel therapy, using keratinocytes from patients with severe generalized EBS due to distinct KRT5 and KRT14 mutations.

INSTRUMENT(S): LTQ Orbitrap

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Keratinocyte, Skin

DISEASE(S): Epidermolysis Bullosa Simplex

SUBMITTER: Joern Dengjel  

LAB HEAD: Joern Dengjel

PROVIDER: PXD010028 | Pride | 2019-12-03

REPOSITORIES: Pride

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20171215_RT_Col0038_C2_01.raw Raw
20171215_RT_Col0038_C2_02.raw Raw
20171215_RT_Col0038_C2_03.raw Raw
20171215_RT_Col0038_C2_04.raw Raw
20171215_RT_Col0038_C2_05.raw Raw
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Publications

<h4>Background</h4>Missense mutations in keratin 5 and 14 genes cause the severe skin fragility disorder epidermolysis bullosa simplex (EBS) by collapsing of the keratin cytoskeleton into cytoplasmic protein aggregates. Despite intense efforts, no molecular therapies are available, mostly due to the complex phenotype of EBS, comprising cell fragility, diminished adhesion, skin inflammation and itch.<h4>Methods</h4>We extensively characterized KRT5 and KRT14 mutant keratinocytes from patients wit  ...[more]

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