Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis

T Igarashi, T Sekine, J Inatomi… - Journal of the American …, 2002 - journals.lww.com
ABSTRACT. Proximal renal tubular acidosis (pRTA) results from an impairment of bicarbonate
(HCO 3−) reabsorption in the renal proximal tubules and is characterized by a decreased …

[HTML][HTML] Human L-type amino acid transporter 1 (LAT1): characterization of function and expression in tumor cell lines

…, Y Tani, Y Taketani, H Uchino, JY Kim, J Inatomi… - … et Biophysica Acta (BBA …, 2001 - Elsevier
System L is a major nutrient transport system responsible for the transport of large neutral
amino acids including several essential amino acids. We previously identified a transporter (L-…

Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities

T Igarashi, J Inatomi, T Sekine, SH Cha, Y Kanai… - Nature …, 1999 - nature.com
1999 Nature America Inc.• http://genetics. nature. com correspondence nature genetics•
volume 23• november 1999 265 sanguineous parents of normal stature. When blood gas …

Expression of a system L neutral amino acid transporter at the blood–brain barrier

…, A Chairoungdua, DK Kim, SH Cha, J Inatomi… - …, 2000 - journals.lww.com
Amino acid transport system L has been proposed to be one of the major nutrient transport
systems at the blood–brain barrier. Using immunohistochemical analyses, a system L …

[HTML][HTML] Human cystine/glutamate transporter: cDNA cloning and upregulation by oxidative stress in glioma cells

…, SH Cha, H Matsuo, DK Kim, J Inatomi… - … et Biophysica Acta (BBA …, 2001 - Elsevier
A human cDNA for amino acid transport system x C − was isolated from diethyl maleate-treated
human glioma U87 cells. U87 cells expressed two variants of system x C − transporters …

Novel nonsense mutation in the Na+/HCO3-cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma

T Igarashi, J Inatomi, T Sekine, G Seki… - Journal of the …, 2001 - journals.lww.com
Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a
systemic disease involving short stature, isolated pRTA, mental retardation, and ocular …

Cloning and characterization of a human brain Na+-independent transporter for small neutral amino acids that transports D-serine with high affinity

…, A Goto, A Chairoungdua, SH Cha, J Inatomi… - Neuroscience …, 2000 - Elsevier
We isolated a cDNA for the human homologue of system asc transporter Asc-1 from human
brain. The encoded protein designated as hAsc-1 (human Asc-1) exhibited 91 % sequence …

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities

S Horita, H Yamada, J Inatomi… - Journal of the …, 2005 - journals.lww.com
Mutations in the Na+-HCO 3− co-transporter (NBC1) cause permanent proximal renal
tubular acidosis (pRTA) with ocular abnormalities. However, little has been known about the …

Expression of human organic anion transporters in the choroid plexus and their interactions with neurotransmitter metabolites

…, A Tojo, R Noshiro, H Hasannejad, J Inatomi… - Journal of …, 2003 - Elsevier
The purpose of the present study was to elucidate the expression of human organic anion
transporter 1 (hOAT1) and hOAT3 in the choroid plexus of the human brain and their …

Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis

J Inatomi, S Horita, N Braverman, T Sekine, H Yamada… - Pflügers Archiv, 2004 - Springer
Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a
systemic disease with isolated pRTA, short stature and ocular abnormalities. We identified a …