Assignment&lt;footref rid="foot01"&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/footref&gt; of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization

Sanz, Raúl; Arco, Araceli del; Ayuso, Cristina de la Cruz; Ramos, Cristina Leite Francisco Gualberto; Satrústegui, Jorgina

doi:10.1159/000015595

Cited by 12 publications

(10 citation statements)

References 5 publications

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“…In recent years the genes and proteins responsible for these activities have been identified. Humans have two AGCs, aralar (also called aralar1; del Arco and Satrústegui, 1998) and citrin (Kobayashi et al, 1999; del Arco et al, 2000), encoded by genes on chromosomes 2q31 (Sanz et al, 2000) and 7q21 (Sinasac et al, 1999), respectively, and three ATP‐Mg/Pi carriers that are short CaMCs, SCaMC 1–SCaMC 3 (del Arco and Satrústegui, 2004; Fiermonte et al, 2004; del Arco, 2005). Yeast mitochondria also contain these carriers (Cavero et al, 2003, 2005).…”

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confidence: 99%

Role of aralar, the mitochondrial transporter of aspartate‐glutamate, in brain N‐acetylaspartate formation and Ca²⁺ signaling in neuronal mitochondria

Satrústegui¹,

Contreras²,

Ramos³

et al. 2007

J of Neuroscience Research

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Aralar, the Ca(2+)-dependent mitochondrial aspartate-glutamate carrier expressed in brain and skeletal muscle, is a member of the malate-aspartate NADH shuttle. Disrupting the gene for aralar, SLC25a12, in mice has enabled the discovery of two new roles of this carrier. On the one hand, it is required for synthesis of brain aspartate and N-acetylaspartate, a neuron-born metabolite that supplies acetate for myelin lipid synthesis; and on the other, it is essential for the transmission of small Ca(2+) signals to mitochondria via an increase in mitochondrial NADH.

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confidence: 99%

Role of aralar, the mitochondrial transporter of aspartate‐glutamate, in brain N‐acetylaspartate formation and Ca²⁺ signaling in neuronal mitochondria

Satrústegui¹,

Contreras²,

Ramos³

et al. 2007

J of Neuroscience Research

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“…Aralar1 and citrin, two members of the CaMC subfamily, are nuclear‐encoded proteins, with genes in human chromosome 2 (SLC25A12 [9,10]) and 7 (SLC25A13 [8,11]), respectively. As recently demonstrated, aralar1 and citrin are isoforms of the mitochondrial aspartate/glutamate carrier (AGC) [12] which catalyzes a 1 : 1 exchange of aspartate for glutamate and plays an important role in the malate/aspartate shuttle, urea synthesis and gluconeogenesis from lactate [13–15].…”

mentioning

confidence: 99%

Expression of the aspartate/glutamate mitochondrial carriers aralar1 and citrin during development and in adult rat tissues

Arco

Morcillo

Martı́nez-Morales

et al. 2002

European Journal of Biochemistry

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Aralar1 and citrin are members of the subfamily of calciumbinding mitochondrial carriers and correspond to two isoforms of the mitochondrial aspartate/glutamate carrier (AGC). These proteins are activated by Ca 2+ acting on the external side of the inner mitochondrial membrane. Although it is known that aralar1 is expressed mainly in skeletal muscle, heart and brain, whereas citrin is present in liver, kidney and heart, the precise tissue distribution of the two proteins in embryonic and adult tissues is largely unknown. We investigated the pattern of expression of aralar1 and citrin in murine embryonic and adult tissues at the mRNA and protein levels. In situ hybridization analysis indicates that both isoforms are expressed strongly in the branchial arches, dermomyotome, limb and tail buds at early embryonic stages. However, citrin was more abundant in the ectodermal components of these structures whereas aralarl had a predominantly mesenchymal localization. The strong expression of citrin in the liver was acquired postnatally, whereas the characteristic expression of aralar1 in skeletal muscle was detected at E18 and that in the heart began early in development (E11) and was preferentially localized to auricular myocardium in late embryonic stages. Aralar1 was also expressed in bone marrow, T-lymphocytes and macrophages, including Kupffer cells in the liver, indicating that this is the major AGC isoform present in the hematopoietic system. Both aralar1 and citrin were expressed in fetal gut and adult stomach, ovary, testis, and pancreas, but only aralar1 is enriched in lung and insulin-secreting b cells. These results show that aralar1 is expressed in many more tissues than originally believed and is absent from hepatocytes, where citrin is the only AGC isoform present. This explains why citrin deficiency in humans (type II citrullinemia) only affects the liver and suggests that aralar1 may compensate for the lack of citrin in other tissues.

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“…Pathogenesis SLC25A12 is located on chromosome 2q31.1 and encodes a mitochondrial aspartate/glutamate transporter (AGC) (94).…”

Section: Slc a And Developmental And Epileptic Encephalopathy Typementioning

confidence: 99%

Solute carrier transporter disease and developmental and epileptic encephalopathy

et al. 2022

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The International League Against Epilepsy officially revised its classification in 2017, which amended “epileptic encephalopathy” to “developmental and epileptic encephalopathy”. With the development of genetic testing technology, an increasing number of genes that cause developmental and epileptic encephalopathies are being identified. Among these, solute transporter dysfunction is part of the etiology of developmental and epileptic encephalopathies. Solute carrier transporters play an essential physiological function in the human body, and their dysfunction is associated with various human diseases. Therefore, in-depth studies of developmental and epileptic encephalopathies caused by solute carrier transporter dysfunction can help develop new therapeutic modalities to facilitate the treatment of refractory epilepsy and improve patient prognosis. In this article, the concept of transporter protein disorders is first proposed, and nine developmental and epileptic encephalopathies caused by solute carrier transporter dysfunction are described in detail in terms of pathogenesis, clinical manifestations, ancillary tests, and precise treatment to provide ideas for the precise treatment of epilepsy.

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Assignment<footref rid="foot01"><sup>1</sup></footref> of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization

Cited by 12 publications

References 5 publications

Role of aralar, the mitochondrial transporter of aspartate‐glutamate, in brain N‐acetylaspartate formation and Ca²⁺ signaling in neuronal mitochondria

Role of aralar, the mitochondrial transporter of aspartate‐glutamate, in brain N‐acetylaspartate formation and Ca²⁺ signaling in neuronal mitochondria

Expression of the aspartate/glutamate mitochondrial carriers aralar1 and citrin during development and in adult rat tissues

Solute carrier transporter disease and developmental and epileptic encephalopathy

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Assignment<footref rid="foot01"><sup>1</sup></footref> of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization

Cited by 12 publications

References 5 publications

Role of aralar, the mitochondrial transporter of aspartate‐glutamate, in brain N‐acetylaspartate formation and Ca2+ signaling in neuronal mitochondria

Role of aralar, the mitochondrial transporter of aspartate‐glutamate, in brain N‐acetylaspartate formation and Ca2+ signaling in neuronal mitochondria

Expression of the aspartate/glutamate mitochondrial carriers aralar1 and citrin during development and in adult rat tissues

Solute carrier transporter disease and developmental and epileptic encephalopathy

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Role of aralar, the mitochondrial transporter of aspartate‐glutamate, in brain N‐acetylaspartate formation and Ca²⁺ signaling in neuronal mitochondria

Role of aralar, the mitochondrial transporter of aspartate‐glutamate, in brain N‐acetylaspartate formation and Ca²⁺ signaling in neuronal mitochondria