Pages that link to "Q40802201"

The following pages link to Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin (Q40802201):

Displaying 28 items.

• Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria (Q24291715) (← links)
• Recombinant expression of the Ca(2+)-sensitive aspartate/glutamate carrier increases mitochondrial ATP production in agonist-stimulated Chinese hamster ovary cells (Q24307541) (← links)
• Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency (Q28211692) (← links)
• 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 (Q28253311) (← links)
• Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia (Q28506798) (← links)
• Developmental changes in the Ca2+-regulated mitochondrial aspartate-glutamate carrier aralar1 in brain and prominent expression in the spinal cord. (Q34199388) (← links)
• Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains. (Q34309836) (← links)
• AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate (Q34422339) (← links)
• Downregulation of citrin, a mitochondrial AGC, is associated with apoptosis of hepatocytes (Q34749989) (← links)
• Screening of SLC25A13 mutation in the Thai population (Q37334143) (← links)
• Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency (Q38300554) (← links)
• The mitochondrial aspartate/glutamate carrier isoform 1 gene expression is regulated by CREB in neuronal cells (Q38918962) (← links)
• Novel variants of human SCaMC-3, an isoform of the ATP-Mg/P(i) mitochondrial carrier, generated by alternative splicing from 3'-flanking transposable elements (Q40440621) (← links)
• Role of the glutamate dehydrogenase reaction in furnishing aspartate nitrogen for urea synthesis: studies in perfused rat liver with 15N. (Q43003269) (← links)
• Citrin deficiency and current treatment concepts (Q43127405) (← links)
• Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice. (Q43984250) (← links)
• Expression of the aspartate/glutamate mitochondrial carriers aralar1 and citrin during development and in adult rat tissues. (Q44041432) (← links)
• Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients (Q44730334) (← links)
• Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele (Q44896694) (← links)
• Reduced carbohydrate intake in citrin-deficient subjects (Q46642310) (← links)
• 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 diagnosis methods for nine mutations (Q48323791) (← links)
• Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro. (Q48497352) (← links)
• Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency. (Q52630605) (← links)
• Transcriptional Regulation Factors of the Human Mitochondrial Aspartate/Glutamate Carrier Gene, Isoform 2 (): USF1 as Basal Factor and FOXA2 as Activator in Liver Cells (Q64254450) (← links)
• Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes (Q79340259) (← links)
• Mitochondrial Carriers for Aspartate, Glutamate and Other Amino Acids: A Review (Q90062078) (← links)
• Amino Acid Transport Defects in Human Inherited Metabolic Disorders (Q92257515) (← links)
• Glutamate Carrier Involvement in Mitochondrial Dysfunctioning in the Brain White Matter (Q98466726) (← links)