Results 21 to 30 of about 1,678 (140)

A crucial role of the malate aspartate shuttle in metabolic reprogramming in TNF-induced SIRS [PDF]

Frontiers in Immunology
Tumor necrosis factor (TNF) causes a lethal systemic inflammatory response syndrome (SIRS) which is characterized by significant metabolic alterations.
Louise Nuyttens, Louise Nuyttens, Marah Heyerick, Marah Heyerick, Maxime Roes, Maxime Roes, Elise Moens, Elise Moens, Céline Van Dender, Céline Van Dender, Charlotte Wallaeys, Charlotte Wallaeys, Tino Hochepied, Tino Hochepied, Steven Timmermans, Steven Timmermans, Jolien Vandewalle, Jolien Vandewalle, Claude Libert, Claude Libert   +19 more
doaj   +2 more sources

Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency [PDF]

Frontiers in Pediatrics
BackgroundThe diagnostic criteria of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) have not been established due to non-specific clinical manifestations, and our understanding on the treatment outcome is still limited.
Juan Li, Jintao Duan, Shuli He, Ying Li, Meifen Wang, Chengjun Deng   +5 more
doaj   +2 more sources

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes [PDF]

BMC Gastroenterology
Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder with heterogeneous clinical manifestations.
Yigui Zou, Yu Dai, Liang Liu, Qinghua Yang, Wenwen Li, Yilin Dong, Sicong Li, Yongwei Cheng, Dongling Dai   +8 more
doaj   +2 more sources

Human mitochondrial carriers of the SLC25 family function as monomers exchanging substrates with a ping-pong kinetic mechanism [PDF]

The EMBO Journal
Members of the SLC25 mitochondrial carrier family link cytosolic and mitochondrial metabolism and support cellular maintenance and growth by transporting compounds across the mitochondrial inner membrane.
Camila Cimadamore-Werthein, Martin S King, Denis Lacabanne, Eva Pyrihová, Stephany Jaiquel Baron, Edmund RS Kunji   +5 more
doaj   +7 more sources

Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case. [PDF]

JIMD Rep
ABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Zribi M, Bhouri M, Khatrouch S, Boudabous H, Häberle J, Abdelmoula MS, Chehida AB.   +6 more
europepmc   +2 more sources

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD). [PDF]

JIMD Rep
ABSTRACT Both citrin deficiency (CD) and citrullinemia type I (CTLN1) may be detected by elevated citrulline through newborn screening (NBS) or present as acute liver failure in later infancy, but they differ significantly in management. This may pose therapeutic challenges in the early period after presentation while awaiting diagnostic confirmation ...
Chan HY, Wong R, Fung CW, Belaramani KM, Mak CM, Yeung M, Chan T, Yeung C, Kwok Y, Kwok AM.   +9 more
europepmc   +2 more sources

Identification of Novel Mutations in Chinese Infants With Citrullinemia

Frontiers in Genetics, 2022
Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate
Zhi Cheng, Zhi Cheng, Xiwen He, Fa Zou, Zhen-E Xu, Zhen-E Xu, Chun Li, Chun Li, Hao Liu, Jingkun Miao   +9 more
doaj   +1 more source

Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report

Heliyon, 2023
Background: Here we report a rare case of citrullinemia type II (CTLN2) accompanied by mental derangement with a deficiency of multidrug resistance 3 (MDR3) in the liver. Case presentation: The clinical data of a 17-year-old girl were collected.
Hong Zhao, Xia Yu, Jinlin Cheng, Deying Chen, Qiaomai Xu, Jifang Sheng, Yu Shi   +6 more
doaj   +1 more source

Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis

Frontiers in Pediatrics, 2021
Citrin deficiency caused by SLC25A13 genetic mutations is an autosomal recessive disease, and four prevalent mutations including c.851_854del, c.1638_1660dup, IVS6+5G>A, and IVS16ins3kb make up >80% of total pathogenic mutations within the Chinese ...
Qinlong Zeng, Yingsong Yang, Jiahong Luo, Jinmei Xu, Choufen Deng, Yuanjuan Yang, Shuming Tan, Shuxiang Sun, Yuping Li, Tong Ou   +9 more
doaj   +1 more source

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family. [PDF]

Protein Sci
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Palmer CS, Leeming PJ, Stojanovski D.
europepmc   +2 more sources