amino acid metabolic disorder

Literature (5)

Literature for DOID 9252: amino acid metabolic disorder

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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The amino acid transporter asc-1 is not involved in cystinuria., Pineda M,Font M,Bassi MT,Manzoni M,Borsani G,Marigo V,Fernández E,Río RM,Purroy J,Zorzano A,Nunes V,Palacín M, Kidney Int. October 1, 2004; 66(4):1523-1755.
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin., Malakauskas SM,Quan H,Fields TA,McCall SJ,Yu MJ,Kourany WM,Frey CW,Le TH, Am J Physiol Renal Physiol. February 1, 2007; 292(2):1522-1466.
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival., Rauschenberger K,Schöler K,Sass JO,Sauer S,Djuric Z,Rumig C,Wolf NI,Okun JG,Kölker S,Schwarz H,Fischer C,Grziwa B,Runz H,Nümann A,Shafqat N,Kavanagh KL,Hämmerling G,Wanders RJ,Shield JP,Wendel U,Stern D,Nawroth P,Hoffmann GF,Bartram CR,Arnold B,Bierhaus A,Oppermann U,Steinbeisser H,Zschocke J, EMBO Mol Med. February 1, 2010; 2(2):1757-4684.
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome., Valayannopoulos V,Bakouh N,Mazzuca M,Nonnenmacher L,Hubert L,Makaci FL,Chabli A,Salomons GS,Mellot-Draznieks C,Brulé E,de Lonlay P,Toulhoat H,Munnich A,Planelles G,de Keyzer Y, J Inherit Metab Dis. January 1, 2013; 36(1):1573-2665.
Interaction of Excitatory Amino Acid Transporters 1 - 3 (EAAT1, EAAT2, EAAT3) with N-Carbamoylglutamate and N-Acetylglutamate., Burckhardt BC,Burckhardt G, Cell Physiol Biochem. January 1, 2017; 43(5):1421-9778.

The amino acid transporter asc-1 is not involved in cystinuria., Pineda M,Font M,Bassi MT,Manzoni M,Borsani G,Marigo V,Fernández E,Río RM,Purroy J,Zorzano A,Nunes V,Palacín M, Kidney Int. October 1, 2004; 66(4):1523-1755.

Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin., Malakauskas SM,Quan H,Fields TA,McCall SJ,Yu MJ,Kourany WM,Frey CW,Le TH, Am J Physiol Renal Physiol. February 1, 2007; 292(2):1522-1466.

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival., Rauschenberger K,Schöler K,Sass JO,Sauer S,Djuric Z,Rumig C,Wolf NI,Okun JG,Kölker S,Schwarz H,Fischer C,Grziwa B,Runz H,Nümann A,Shafqat N,Kavanagh KL,Hämmerling G,Wanders RJ,Shield JP,Wendel U,Stern D,Nawroth P,Hoffmann GF,Bartram CR,Arnold B,Bierhaus A,Oppermann U,Steinbeisser H,Zschocke J, EMBO Mol Med. February 1, 2010; 2(2):1757-4684.

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome., Valayannopoulos V,Bakouh N,Mazzuca M,Nonnenmacher L,Hubert L,Makaci FL,Chabli A,Salomons GS,Mellot-Draznieks C,Brulé E,de Lonlay P,Toulhoat H,Munnich A,Planelles G,de Keyzer Y, J Inherit Metab Dis. January 1, 2013; 36(1):1573-2665.

Interaction of Excitatory Amino Acid Transporters 1 - 3 (EAAT1, EAAT2, EAAT3) with N-Carbamoylglutamate and N-Acetylglutamate., Burckhardt BC,Burckhardt G, Cell Physiol Biochem. January 1, 2017; 43(5):1421-9778.