Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin.
Iijima
M
M
Department of Biochemistry, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, 890-8520, Kagoshima, Japan.
Jalil
A
A
Begum
L
L
Yasuda
T
T
Yamaguchi
N
N
Xian Li
M
M
Kawada
N
N
Endou
H
H
Kobayashi
K
K
Saheki
T
T
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000818:Animals; D015152:Blotting, Northern; D002135:Calcium-Binding Proteins / Q000096:biosynthesis* / Q000737:chemistry / Q000172:deficiency*; D002460:Cell Line; D002648:Child; D020159:Citrullinemia / Q000175:diagnosis* / Q000473:pathology*; D004252:DNA Mutational Analysis; D004727:Endothelium / Q000378:metabolism; D006801:Humans; D007421:Intestine, Small / Q000378:metabolism; D007668:Kidney / Q000378:metabolism; D007728:Kupffer Cells / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D009154:Mutation; D017830:Octoxynol / Q000494:pharmacology; D027361:Organic Anion Transporters; D012333:RNA, Messenger / Q000378:metabolism; D051381:Rats; D017208:Rats, Wistar; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013696:Temperature; D013997:Time Factors; D014018:Tissue Distribution
D002135:Calcium-Binding Proteins; D027361:Organic Anion Transporters; D012333:RNA, Messenger; C008822:citrin; D017830:Octoxynol