PMID: 17972020

Nikles D, Tampe R
Targeted degradation of ABC transporters in health and disease.
J Bioenerg Biomembr. 2007 Dec;39(5-6):489-97., [PubMed]
Sentences
No. Mutations Sentence Comment
92 ABCG2 p.Cys608Gly
X
ABCG2 p.Cys608Gly 17972020:92:320
status: NEW
view ABCG2 p.Cys608Gly details
ABCG2 p.Cys592Gly
X
ABCG2 p.Cys592Gly 17972020:92:311
status: NEW
view ABCG2 p.Cys592Gly details
ABCC8 p.Leu183Pro
X
ABCC8 p.Leu183Pro 17972020:92:864
status: NEW
view ABCC8 p.Leu183Pro details
Table 1 Degradation of ABC transporters ABC transporter Organism Initiation of degradation Ref. CFTR/ABCC7 (wt and ΔF508) Human Misfolding Jensen et al. (1995), Ward et al. (1995) SUR1/ABCC8 (wt and mutants) Human Lack of K(ATP) channel misfolding Crane and Aguilar-Bryan (2004); Yan et al. (2005) ABCG2 (C592G or C608G) Human Lack of intramolecular disulfide bond Wakabayashi et al. (2007) ALDP/ABCD1 (several mutants) Human Mutations in the NBD Takahashi et al. (2007) TAP2/ABCB3 Human Lack of TAP1 de la Salle et al. (1999), Heintke et al. (2003), Karttunen et al. (2001) TAP1/2/ABCB2/3 Human Lack of tapasin Garbi et al. (2003), Lehner et al. (1998), Papadopoulos and Momburg (2007) TAP1/2/ABCB2/3 Human Viral inhibitors UL49.5 and mK3 Boname et al. (2004), Koppers-Lalic et al. (2005), Lybarger et al. (2003), Wang et al. (2007) Pdr5 (ΔC-term and L183P) Yeast Misfolded NBD de Thozee et al. (2007) Yor1p (ΔF670) Yeast Space change in NBD Pagant et al. (2007) Instability and degradation of TAP2 in TAP1 deficiency (Bare Lymphocyte Syndrome, BLS) Molecules and disease-associated states that interfere with the stability of TAP are reconciled in this and the next chapter to reveal an overall understanding of TAP biogenesis. Login to comment