The molecular basis of neutral aminoacidurias

Angelika Bröer; Juleen A. Cavanaugh; John E.J. Rasko; Stefan Bröer

doi:10.1007/s00424-005-1481-8

The molecular basis of neutral aminoacidurias

Angelika Bröer, Juleen A. Cavanaugh, John E.J. Rasko, Stefan Bröer^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

54 Citations (Scopus)

Abstract

Recent success in the molecular cloning and identification of apical neutral amino acid transporters has shed a new light on inherited neutral amino acidurias, such as Hartnup disorder and Iminoglycinuria. Hartnup disorder is caused by mutations in the neutral amino acid transporter B⁰ AT1 (SLC6A19). The transporter is found in kidney and intestine, where it is involved in the resorption of all neutral amino acids. The molecular defect underlying Iminoglycinuria has not yet been identified. However, two transporters, the proton amino acid transporter PAT1 (SLC36A1) and the IMINO transporter (SLC6A20) appear to play key roles in the resorption of glycine and proline. A model is presented, involving all three transporters that can explain the phenotypic variability of iminoglycinuria.

Original language	English
Pages (from-to)	511-517
Number of pages	7
Journal	Pflugers Archiv European Journal of Physiology
Volume	451
Issue number	4
DOIs	https://doi.org/10.1007/s00424-005-1481-8
Publication status	Published - Jan 2006

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title = "The molecular basis of neutral aminoacidurias",

abstract = "Recent success in the molecular cloning and identification of apical neutral amino acid transporters has shed a new light on inherited neutral amino acidurias, such as Hartnup disorder and Iminoglycinuria. Hartnup disorder is caused by mutations in the neutral amino acid transporter B0 AT1 (SLC6A19). The transporter is found in kidney and intestine, where it is involved in the resorption of all neutral amino acids. The molecular defect underlying Iminoglycinuria has not yet been identified. However, two transporters, the proton amino acid transporter PAT1 (SLC36A1) and the IMINO transporter (SLC6A20) appear to play key roles in the resorption of glycine and proline. A model is presented, involving all three transporters that can explain the phenotypic variability of iminoglycinuria.",

keywords = "Hartnup disorder, Iminoglycinuria, Proton amino acid transporter, SLC36A1 neurotransmitter transporter, SLC6A19, SLC6A20",

author = "Angelika Br{\"o}er and Cavanaugh, {Juleen A.} and Rasko, {John E.J.} and Stefan Br{\"o}er",

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T1 - The molecular basis of neutral aminoacidurias

AU - Bröer, Angelika

AU - Cavanaugh, Juleen A.

AU - Rasko, John E.J.

AU - Bröer, Stefan

PY - 2006/1

Y1 - 2006/1

N2 - Recent success in the molecular cloning and identification of apical neutral amino acid transporters has shed a new light on inherited neutral amino acidurias, such as Hartnup disorder and Iminoglycinuria. Hartnup disorder is caused by mutations in the neutral amino acid transporter B0 AT1 (SLC6A19). The transporter is found in kidney and intestine, where it is involved in the resorption of all neutral amino acids. The molecular defect underlying Iminoglycinuria has not yet been identified. However, two transporters, the proton amino acid transporter PAT1 (SLC36A1) and the IMINO transporter (SLC6A20) appear to play key roles in the resorption of glycine and proline. A model is presented, involving all three transporters that can explain the phenotypic variability of iminoglycinuria.

AB - Recent success in the molecular cloning and identification of apical neutral amino acid transporters has shed a new light on inherited neutral amino acidurias, such as Hartnup disorder and Iminoglycinuria. Hartnup disorder is caused by mutations in the neutral amino acid transporter B0 AT1 (SLC6A19). The transporter is found in kidney and intestine, where it is involved in the resorption of all neutral amino acids. The molecular defect underlying Iminoglycinuria has not yet been identified. However, two transporters, the proton amino acid transporter PAT1 (SLC36A1) and the IMINO transporter (SLC6A20) appear to play key roles in the resorption of glycine and proline. A model is presented, involving all three transporters that can explain the phenotypic variability of iminoglycinuria.

KW - Hartnup disorder

KW - Iminoglycinuria

KW - Proton amino acid transporter

KW - SLC36A1 neurotransmitter transporter

KW - SLC6A19

KW - SLC6A20

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U2 - 10.1007/s00424-005-1481-8

DO - 10.1007/s00424-005-1481-8

M3 - Review article

SN - 0031-6768

VL - 451

SP - 511

EP - 517

JO - Pflugers Archiv European Journal of Physiology

JF - Pflugers Archiv European Journal of Physiology

IS - 4

ER -

The molecular basis of neutral aminoacidurias

Abstract

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