ArticleAmerican journal of human genetics2012
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature.Orphanet journal of rare diseases · 2023Pooled it
- Punctate Palmoplantar Keratoderma Type 1 With a Multigenerational Family History: A Case Report.Cureus · 2026Article
- CCDC32 collaborates with the membrane to assemble the AP-2 clathrin adaptor complex.Science advances · 2026Article
- Structural basis of pseudoGTPase-mediated protein-protein interactions.Structure (London, England : 1993) · 2025Article
- Bi-handed assembly chaperones regulate protein complex assembly through an intramolecular handover mechanism.Science advances · 2025Article
- Oligomer-to-monomer transition underlies the chaperone function of AAGAB in AP1/AP2 assembly.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Punctate Palmoplantar Keratoderma: A Case Report.Cureus · 2023Article
- The adaptor protein chaperone AAGAB stabilizes AP-4 complex subunits.Molecular biology of the cell · 2022Article
- AAGAB is an assembly chaperone regulating AP1 and AP2 clathrin adaptors.Journal of cell science · 2021Article
- AGenes · 2020Article
- Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.The British journal of dermatology · 2020Review
- Coatopathies: Genetic Disorders of Protein Coats.Annual review of cell and developmental biology · 2019Review
- AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis.Developmental cell · 2019Article
- Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.Genes & genomics · 2018Article
- [Practical aspects of molecular diagnostics in genodermatoses].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2016Review
- Contributions of epsinR and gadkin to clathrin-mediated intracellular trafficking.Molecular biology of the cell · 2015Article
- Keratotic papules of palms and soles.Dermatology practical & conceptual · 2015Article
- The genetics of human skin disease.Cold Spring Harbor perspectives in medicine · 2014Review
- Article
- New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.The British journal of dermatology · 2014Article
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. To date, two different loci in chromosomal regions 15q22-15q24 and 8q24.13-8q24.21 have been reported. Pathogenic mutations, however, have yet to be identified. In order to elucidate the genetic cause of PPKP type Buschke-Fischer-Brauer (PPKP1), we performed exome sequencing in five affected individuals from three families, and we identified in chromosomal region 15q22.33-q23 two heterozygous nonsense mutations-c.370C>T (p.Arg124(∗)) and c.481C>T (p.Arg161(∗))-in AAGAB in all affected individuals. Using immunoblot analysis, we showed that both mutations result in premature termination of translation and truncated protein products. Analyses of mRNA of affected individuals revealed that the disease allele is either not detectable or only detectable at low levels. To assess the consequences of the mutations in skin, we performed immunofluorescence analyses. Notably, the amount of granular staining in the keratinocytes of affected individuals was lower in the cytoplasm but higher around the nucleus than it was in the keratinocytes of control individuals. AAGAB encodes the alpha-and gamma-adaptin-binding protein p34 and might play a role in membrane traffic as a chaperone. The identification of mutations, along with the results from additional studies, defines the genetic basis of PPKP1 and provides evidence that AAGAB plays an important role in skin integrity.
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