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Transcriptional Regulation Factors of the Human Mitochondrial Aspartate/Glutamate Carrier Gene, Isoform 2 (SLC25A13): USF1 as Basal Factor and FOXA2 as Activator in Liver Cells [PDF]

International Journal of Molecular Sciences, 2019
Mitochondrial carriers catalyse the translocation of numerous metabolites across the inner mitochondrial membrane, playing a key role in different cell functions. For this reason, mitochondrial carrier gene expression needs tight regulation. The human SLC25A13 gene, encoding for the mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), catalyses ...
Dominga Iacobazzi, Giuseppe Biagio Giovanni MARTELLI, Paolo Convertini   +2 more
exaly   +7 more sources

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Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations

Journal of Pediatric Endocrinology and Metabolism, 2015
AbstractNeonatal intrahepatic cholestatic due to citrin deficiency (NICCD) is an autosomal recessive disorder caused by mutations in ...
Sainan Shu, Zhihua Huang
exaly   +3 more sources

Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

Tohoku Journal of Experimental Medicine, 2014
Citrin is the liver-type aspartate/glutamate carrier isoform 2 (AGC2) encoded by SLC25A13 gene, playing important roles in the urea cycle and the malate-aspartate shuttle. Citrin deficiency (CD) has proven a disease entity with high prevalence in south China, including Guangdong with the largest population, but CD epidemiology in this province has not ...
Takeyori Saheki, Atsuo Kikuchi
exaly   +4 more sources

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant

Gene, 2022
Citrin deficiency is an autosomal recessive disorder associated with SLC25A13 gene pathogenic variants, with more than a hundred known at present. It manifests in neonates as failure to thrive and acute liver insufficiency. We herein describe a case of a 4-week-old infant who presented with insufficient weight gain and liver failure accompanied by ...
Nimrod Sachs, Oded Wechsberg, Yuval E. Landau, Irit Krause, Ifat Israel Elgali, Malak Darawshe, Noam Shomron, Gabriel Lidzbarsky, Naama Orenstein   +8 more
openaire   +2 more sources

The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia

Journal of Gastroenterology, 2010
SLC25A13 gene mutations cause citrin deficiency, which leads to neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Information on the mutation spectrum of SLC25A13 in the Chinese population is limited. The aim of this study was to explore the mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and
Takeyori Saheki, Xiao-Hong Wang, Keiko Kobayashi   +2 more
exaly   +3 more sources

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency [PDF]

Journal of Human Genetics, 2008
Deficiency of citrin, liver-type mitochondrial aspartate-glutamate carrier, is an autosomal recessive disorder caused by mutations of the SLC25A13 gene on chromosome 7q21.3 and has two phenotypes: neonatal intrahepatic cholestatic hepatitis (NICCD) and adult-onset type II citrullinemia (CTLN2). So far, we have described 19 SLC25A13 mutations.
Shosei Kishida, Yuan-Zong Song, Mikio Iijima   +2 more
exaly   +5 more sources

The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis

Journal of Human Genetics, 2023
Citrin deficiency (CD), a disorder caused by mutations in the SLC25A13 gene, may result in neonatal intrahepatic cholestasis. This study was purposely to explore the mutation spectrum of SLC25A13 gene in Vietnamese CD patients.The 292 unrelated CD patients were first screened for four high-frequency mutations by PCR/PCR-RFLP.
Hoa Giang, Hoai-Nghia Nguyen, Y-Thanh Lu
exaly   +3 more sources

Bioinformatic and functional analysis of promoter region of human SLC25A13 gene

Gene, 2019
The human SLC25A13 gene encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2, commonly named as citrin), which plays a key role in the main NADH-shuttle of human hepatocyte. Biallelic SLC25A13 mutations result in Citrin deficiency (CD).
Jun-Lin, Chen, Zhan-Hui, Zhang, Bing-Xiao, Li, Zhen, Cai, Qing-Hua, Zhou   +4 more
openaire   +2 more sources

High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan

Clinica Chimica Acta, 2011
Citrin, encoded by SLC25A13 gene, is a mitochondrial solute transporter with a crucial role in urea, nucleotide and protein synthesis. SLC25A13 mutations cause two phenotypes, adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
Jing-Ting, Lin, Kwang-Jen, Hsiao, Chiung-Yu, Chen, Cheng-Chung, Wu, Shio-Jean, Lin, Yen-Yin, Chou, Shu-Chu, Shiesh   +6 more
openaire   +2 more sources

An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the SLC25A13 Gene

Internal Medicine, 2012
Mutations in the SLC25A13 gene lead to neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult-onset type II citrullinemia (CTLN2). A 62-year-old man presented with recurrent episodes of neuropsychiatric manifestations. On admission, he had disorientation and flapping tremor.
Manabu Wada, Hiroaki Haga, Chikahiko Numakura   +2 more
exaly   +5 more sources