Results 61 to 70 of about 2,676,573 (175)

MOESM3 of Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report

, 2019
Additional file 3: Table S2. Result of splice-site prediction.
Zhang, Linlin, Li, Yingying, Shi, Wenli, Gao, Jinshuang, Tian, Yuan, Li, Ying, Guo, Yaqing, Cui, Shihong, Zhang, Xiaoan   +8 more
openaire   +1 more source

Frequency and proportion of the mutated SLC25A13 alleles in the large Chinese Pediatric cohort.

, 2013
*Among the 116 patients, there were 3 siblings from 3 families. Therefore, the cohort comprised 226 mutated SLC25A13 alleles in total, including 6 unknown ones.
Mei Deng (460870), Shun Soneda (460876), Feng-Ping Chen (460872), Xiao-Ling Long (460873), Takeyori Saheki (460880), Li Guo (171454), Keiko Kobayashi (28676), Yan-Li Ma (460871), Lock-Hock Ngu (460879), Sumito Dateki (460878), Akiko Nakatomi (460877), Yuan-Zong Song (460866), Wei-Xia Lin (460868), Xiang-Ling He (460874), Xin-Jing Zhao (460869), Zhan-Hui Zhang (460867), Yoshihide Sunada (460875)   +16 more
core   +1 more source

The pyruvate generator is a common phenomenon in mitochondria from different rat and mouse brain regions

FEBS Letters, Volume 600, Issue 12, Page 1770-1781, June 2026.
The pyruvate generator, which causes activation of respiration by extra‐mitochondrial Ca2+, is also present and functional in rat brainstem mitochondria, as it is in other brain regions. This finding is confirmed by experiments with a fully reconstituted malate–aspartate shuttle (MAS).
Grazyna Debska‐Vielhaber, Niki Karavasili, Matthias Kunz, Zemfira Gizatullina, Timur Gainutdinov, Stefan Vielhaber, Wolfram S. Kunz, Frank N. Gellerich   +7 more
wiley   +1 more source

Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants [PDF]

, 2007
Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
Seo, Jeong Kee, Park, Sung Sup, Ko, Jae Sung, Song, Jung Han   +3 more
core   +1 more source

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

BMC Medical Genetics, 2013
Background Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS.
Wang Li-Yun, Chen Nien-I, Chen Pin-Wen, Chiang Shu-Chuan, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hsiu   +6 more
doaj   +1 more source

Plasmacytoid Dendritic Cells Exhibit High Transferrin Receptor Expression Without Iron Accumulation

European Journal of Immunology, Volume 56, Issue 6, June 2026.
• pDCs are defined by high surface TFRC expression and dynamic iron flux, distinguishing them from conventional dendritic cell subsets. • In the Iron proteome, pDC are enriched for mitochondrial heme and Fe–S proteins but have similar iron storage to cDC. • Iron chelation does not disrupt pDC type‐1 IFN production. ABSTRACT Plasmacytoid dendritic cells
Carrie Corkish, Simon O'Shaughnessy, Claire Lin, Sophia Wugk, Sarah Kenny, Linda Sinclair, Suzanne Cloonan, David Finlay   +7 more
wiley   +1 more source

Energy metabolism, adenosine, and glutamate signaling reprogramming by decanoic acid in Glut1 disorder syndrome

Epilepsia Open, Volume 11, Issue 3, Page 1036-1045, June 2026.
Abstract Glut1 deficiency syndrome (Glut1DS) leads to neurological and cognitive symptoms and is primarily treated using carbohydrate‐restricted ketogenic diets. However, a recent clinical trial of a less restrictive, non‐ketogenic, medium chain triglyceride (MCT) diet with a high decanoic acid content suggests efficacy in Glut1DS treatment.
Erwann Pain, Yatra Kapatel, Pankaj K. Singh, Katie Lloyd Jones, Jamuna Selvakumaran, Alberto Malerba, Walter Lucchesi, Tricia Rutherford, Christina A. Gurnett, Matthew C. Walker, Robin S. B. Williams   +10 more
wiley   +1 more source

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

, 1999
Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS deficiency with no abnormalities in hepatic ASS mRNA ...
Saheki, T, Boright, AP, Scherer, SW, Ryuki Hirano, Hirano, R, Andrew P. Boright, Ikeda, S, Mikio Iijima, Tsui, LC, Michael A. Crackower, Tomotsugu Yasuda, Begum, L, Lap-Chee Tsui, David S. Sinasac, Jeffrey R. Lee, Crackower, MA, Sayaka Ikeda, Yasuda, T, Iijima, M, Terazono, H, Takeyori Saheki, Stephen W. Scherer, Keiko Kobayashi, Kondo, I, Sinasac, DS, Laila Begum, Hiroki Terazono, Kobayashi, K, Ikuko Kondo, Lee, JR   +29 more
core   +1 more source

Clinical significance of elevated serum citrulline levels in patients with epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Objective To discuss the clinical significance of elevated serum citrulline levels in patients with epilepsy, and to provide new idea for improving the curative effect of antiepileptic drugs (AEDs).
Yan ZHANG, Yan-ling CHEN, Mei-mei HAO, Na QIN, Yan-chun DENG   +4 more
doaj  

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Two unrelated Chinese male OTCD‐suspected patients harbored an OTC synonymous variant (c.663G>A, p.Lys221Lys) and a novel de novo in‐frame variant (c.756_761dupAGCAGC, p.Ala253_Ala254dup); minigene analysis confirmed the synonymous variant induces exon 6 skipping with 41 amino acid deletion (c.541_663del, p.Glu181_Lys221del).
Qingming Wang, Huimin Xiao, Fang Zhang, Hui Li, Juan Zhao, Haiming Yuan   +5 more
wiley   +1 more source