Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
T Saheki, K Kobayashi - Journal of human genetics, 2002 - nature.com
By using homozygosity mapping and positional cloning, we have shown that adult-onset
type II citrullinemia (CTLN2) is caused by mutations of the SLC25A13 gene, which is …
type II citrullinemia (CTLN2) is caused by mutations of the SLC25A13 gene, which is …
[HTML][HTML] Diseases caused by defects of mitochondrial carriers: a review
F Palmieri - Biochimica et Biophysica Acta (BBA)-Bioenergetics, 2008 - Elsevier
A strikingly large number of mitochondrial DNA (mtDNA) mutations have been found to be
the cause of respiratory chain and oxidative phosphorylation defects. These mitochondrial …
the cause of respiratory chain and oxidative phosphorylation defects. These mitochondrial …
[HTML][HTML] Citrin and aralar1 are Ca2+‐stimulated aspartate/glutamate transporters in mitochondria
L Palmieri, B Pardo, FM Lasorsa, A Del Arco… - The EMBO …, 2001 - embopress.org
The mitochondrial aspartate/glutamate carrier catalyzes an important step in both the urea
cycle and the aspartate/malate NADH shuttle. Citrin and aralar1 are homologous proteins …
cycle and the aspartate/malate NADH shuttle. Citrin and aralar1 are homologous proteins …
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
K Kobayashi, DS Sinasac, M Iijima, AP Boright… - Nature …, 1999 - nature.com
Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of
argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is …
argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is …
Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in Suzhou, China: disease spectrum, prevalence, genetic characteristics …
T Wang, J Ma, Q Zhang, A Gao, QI Wang, H Li… - Frontiers in …, 2019 - frontiersin.org
Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass
spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify …
spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify …
Neonatal presentation of adult-onset type II citrullinemia
T Ohura, K Kobayashi, Y Tazawa, I Nishi, D Abukawa… - Human genetics, 2001 - Springer
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific
argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded …
argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded …
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
T Yasuda, N Yamaguchi, K Kobayashi, I Nishi… - Human genetics, 2000 - Springer
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific deficiency of
argininosuccinate synthetase (ASS) protein. We have recently identified the gene …
argininosuccinate synthetase (ASS) protein. We have recently identified the gene …
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
K Engel, W Höhne, J Häberle - Human mutation, 2009 - Wiley Online Library
Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the
urea cycle enzyme argininosuccinate synthetase (ASS1). Deficiency of ASS1 shows various …
urea cycle enzyme argininosuccinate synthetase (ASS1). Deficiency of ASS1 shows various …
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and …
N Yamaguchi, K Kobayashi, T Yasuda, I Nishi… - Human …, 2002 - Wiley Online Library
We have recently identified SLC25A13 on chromosome 7q21. 3 as the gene responsible for
adult‐onset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene …
adult‐onset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene …
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients
HZ Gao, K Kobayashi, A Tabata, H Tsuge… - Human …, 2003 - Wiley Online Library
Abstract Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by
mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34 …
mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34 …