anti-alpha- and gamma-Adaptin Binding Protein (AAGAB) Antibodies

Human alpha- and gamma-Adaptin Binding Protein (AAGAB) interaction partners

1. Identical AAGAB genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer syndrome).

2. we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA.

3. Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I.

4. results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma.

5. case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family.

6. This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development.

7. families with type 1 punctate palmoplantar keratoderma have distinct mutations in AAGAB

8. Results identify novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees.

9. analysis of the AAGAB genotype in 12 Punctate palmoplantar keratoderma (PPKP1) patients from 6 independent kindreds of Scottish, English, and Mexican ancestry

10. We identified six mutations in the AAGAB gene in Chinese punctate palmoplantar keratoderma patients.

11. We report the characteristics of a heterozygous AAGAB splice-site mutation in primary keratinocytes.

12. Identification of two heterozygous nonsense mutations-c.370C>T (p.Arg124) and c.481C>T (p.Arg161)-in AAGAB in patients with punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

13. We hypothesize that AAGAB (p34) deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation