PMID- 23221702
OWN - NLM
STAT- MEDLINE
DCOM- 20130604
LR  - 20171213
IS  - 1347-6947 (Electronic)
IS  - 0916-8451 (Linking)
VI  - 76
IP  - 12
DP  - 2012
TI  - The effects of neurological disorder-related codon variations of ABCA13 on the 
      function of the ABC protein.
PG  - 2289-93
AB  - Rare coding variants of ATP-binding cassette protein A13 (ABCA13) contribute to 
      the risk of neurological disorders, but little is known about the physiological 
      function of ABCA13 and how single nucleotide polymorphisms (SNPs) affect it. 
      Here, we examined the effects of neurological disorder-related SNPs ABCA13, 
      T4031A and R4843C in the context of ABCA1, and found that the former SNP (T1088A 
      in ABCA1) severely impaired the ABCA1 functions of apolipoprotein A-I (apoA-I) 
      binding and cholesterol efflux. The antibody against mouse ABCA13 reacted with 
      neurons in the cerebral cortex, hippocampus, and cerebellum. These results 
      suggest that the T4031A replacement affects the function of ABCA13 in the brain.
FAU - Tomioka, Maiko
AU  - Tomioka M
AD  - Institute for Integrated Cell-Material Sciences (iCeMS), Kyoto University, Kyoto, 
      Japan.
FAU - Toda, Yoshinobu
AU  - Toda Y
FAU - Kurisu, Junko
AU  - Kurisu J
FAU - Kimura, Yasuhisa
AU  - Kimura Y
FAU - Kengaku, Mineko
AU  - Kengaku M
FAU - Ueda, Kazumitsu
AU  - Ueda K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20121207
PL  - England
TA  - Biosci Biotechnol Biochem
JT  - Bioscience, biotechnology, and biochemistry
JID - 9205717
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Abca13 protein, mouse)
RN  - 0 (Apolipoprotein A-I)
RN  - 0 (Codon)
RN  - 0 (Nucleotides)
RN  - 97C5T2UQ7J (Cholesterol)
SB  - IM
MH  - ATP-Binding Cassette Transporters/chemistry/*genetics/*metabolism
MH  - Amino Acid Sequence
MH  - Animals
MH  - Apolipoprotein A-I/metabolism
MH  - Cell Membrane/metabolism
MH  - Cholesterol/metabolism
MH  - Codon/*genetics
MH  - Gene Expression Regulation
MH  - HEK293 Cells
MH  - Humans
MH  - Mice
MH  - Models, Molecular
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Nervous System Diseases/*genetics
MH  - Nucleotides/metabolism
MH  - *Polymorphism, Single Nucleotide
MH  - Protein Structure, Tertiary
EDAT- 2012/12/12 06:00
MHDA- 2013/06/05 06:00
CRDT- 2012/12/11 06:00
PHST- 2012/12/11 06:00 [entrez]
PHST- 2012/12/12 06:00 [pubmed]
PHST- 2013/06/05 06:00 [medline]
AID - DN/JST.JSTAGE/bbb/120563 [pii]
AID - 10.1271/bbb.120563 [doi]
PST - ppublish
SO  - Biosci Biotechnol Biochem. 2012;76(12):2289-93. doi: 10.1271/bbb.120563. Epub 
      2012 Dec 7.