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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
TLDR
A novel gene, SLC25A13, is identified, and five different DNA sequence alterations that account for mutations in all consanguineous patients examined are found, suggesting it is a calcium-dependent mitochondrial solute transporter with a role in urea cycle function.
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Citrin and aralar1 are Ca2+‐stimulated aspartate/glutamate transporters in mitochondria
TLDR
The results demonstrate that citrin and aralar1 are isoforms of the hitherto unidentified aspartate/glutamate carrier and explain why mutations in citrin cause type II citrullinemia in humans, and suggest a novel mechanism of Ca2+ regulation of the as partate/malate shuttle.
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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
TLDR
13 novel SLC25A13 mutations are reported in patients with citrin deficiency from Japan, Israel, UK, and Czech Republic, suggesting that these mutations may have occurred very early in some area of East Asia.
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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients
TLDR
Ass mutations detected in 35 additional CTLN1 families from 11 countries are reported and it may be concluded that any of the 37 missense mutations found at 30 different positions led to structural and functional impairments of the human ASS protein.
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Reduced N-Acetylaspartate Levels in Mice Lacking Aralar, a Brain- and Muscle-type Mitochondrial Aspartate-glutamate Carrier*
TLDR
Results show that aralar plays an important role in myelin formation by providing aspartate for the synthesis of N-acetylaspartate in neuronal cells.
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Wnt‐5a signaling is correlated with infiltrative activity in human glioma by inducing cellular migration and MMP‐2
TLDR
Results suggested that Wnt‐5a is not only a prognostic factor but also a therapeutic target molecule in gliomas for preventing tumor cell infiltration.
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Essential Role of Aralar in the Transduction of Small Ca+ Signals to Neuronal Mitochondria*
TLDR
It is shown that lactate utilization involves a substantial transfer of NAD(P)H to mitochondria in control but not aralar-deficient neurons, in agreement with the lack of MAS activity associated with aralars deficiency, and that neuronal MAS activity is selectively activated by small Ca2+ signals that fall below the activation range of the Ca2+.
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Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
TLDR
A novel mutation IVS6+1G>C in a Japanese CTLN2 patient is identified and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm the preliminary results that the carrier frequency was high in Asian populations.
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Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.
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Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA…
TLDR
A novel mutation, E601X, is identified in the SLC25A13 gene and multiple DNA diagnosis methods for eight mutations are established by using a genetic analyzer with GeneScan and the single primer extension procedure (SNaPshot).
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