Results 51 to 60 of about 1,894 (150)

The Role of Urea Cycle Functional Studies in Preclinical Research

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Inborn errors of metabolism affecting the urea cycle are rare severe conditions caused by impaired nitrogen detoxification, leading to hyperammonemia and neurological morbidity across a broad clinical spectrum. Current biochemical diagnostics largely rely on quantification of metabolites. While indispensable for diagnosis and acute management,
Nathan Breuillard, Nadia Zürcher, Erica Faccin, Kim L. Stocker, Martin Poms, Johannes Häberle   +5 more
wiley   +1 more source

Late-onset citrullinemia type I: A radiological mimic of herpes encephalitis

Journal of Pediatric Neurosciences, 2019
We describe a 10 year old boy who presented with acute onset rapidly progressing encephalopathy. MRI revealed bilateral insular cortex and basifrontal involvement suggesting Herpes encephalitis.
Razia A Kadwa, Naveen Sankhyan, Chirag K Ahuja, Pratibha Singhi   +3 more
doaj   +1 more source

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue

, 1999
Citrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-onset type II citrullinemia (CTLN2) is a form of the disease that is defined by a quantitative decrease in ASS protein, but with ...
Saheki, T, Scherer, SW, Sinasac, DS, Crackower, MA, Kobayashi, K, Tsui, LC, Lee, JR   +6 more
core   +1 more source

Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency

Stem Cell Research & Therapy, 2017
Background Argininosuccinate synthase (ASS)1 is a urea cycle enzyme that catalyzes the conversion of citrulline and aspartate to argininosuccinate. Mutations in the ASS1 gene cause citrullinemia type I, a rare autosomal recessive disorder characterized ...
Maria Beatriz Herrera Sanchez, Sara Previdi, Stefania Bruno, Valentina Fonsato, Maria Chiara Deregibus, Sharad Kholia, Sara Petrillo, Emanuela Tolosano, Rossana Critelli, Marco Spada, Renato Romagnoli, Mauro Salizzoni, Ciro Tetta, Giovanni Camussi   +13 more
doaj   +1 more source

Self‐Reported Health‐Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Multiple studies have assessed Health‐Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self‐reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints ...
Curtis R. Coughlin II, John Barber, Chaya N. Murali, Members of the Urea Cycle Disorders Consortium (UCDC), Nicholas Ah Mew, Matthias R. Baumgartner, Gerald Berry, Susan A Berry, Margo Breilyn, Gregory Enns, Can Ficicioglu, Renata C. Gallagher, Andrea Gropman, Cary O. Harding, Georg Hoffman, Laura Konczal, Christina Lam, Cynthia Le Mons, Shawn E. McCandless, Sandesh CS Nagamani, Roland Posset, Andreas Schulze, Jennifer Seminara, Tamar Stricker, Derek Wong, Greta Wilkening   +25 more
wiley   +1 more source

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
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 ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

Helper-dependent adenoviral vectors in the treatment of citrullinemia

, 2000
Citrullinemia is a urea cycle disorder characterized by deficiency of argininosuccinate synthetase (ASS). Gene therapy correction in both humans and animal models will require high levels of hepatocyte transduction and long-term transgene expression.
Bodamer, Olaf, O\u27Brien, William, Mull, Benjamin, Pastore, Lucio, Lee, Brendan, Mian, Asad, Toietta, Gabriele, Beaudet, Arthur   +7 more
core   +1 more source

DataSheet1_Identification of Novel Mutations in Chinese Infants With Citrullinemia.PDF

, 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
Xiwen He (1485397), Fa Zou (12190559), Zhen-E Xu (12190562), Jingkun Miao (10704924), Zhi Cheng (729515), Chun Li (57810), Hao Liu (12832)   +6 more
core   +1 more source

Liver Transplantation in an Adult with Citrullinaemia Type 2

Journal of Transplantation, 2011
Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas Type 2 disease is adult onset.
Hui-Hui Tan, Wan-Cheng Chow, Kiat-Hon Lim, Wei-Keat Wan, Alexander Y. F. Chung, Peng-Chung Cheow, Chee-Kiat Tan   +6 more
doaj   +1 more source

Generation of an ASS1 heterozygous knockout human embryonic stem cell line, WAe001-A-13, using CRISPR/Cas9

Stem Cell Research, 2018
The ASS1 gene encodes argininosuccinate synthetase-1, a cytosolic enzyme with a critical role in the urea cycle. Mutations are found in all ASS1 exons and cause the autosomal recessive disorder citrullinemia. Using CRISPR/Cas9-editing, we established the
Fang Yuan, Dongsheng Guo, Yanli Liu, Yingying Xu, Ge Gao, Yuhang Wu, Fan Yang, Xinrong Ke, Keyu Lai, Hongcheng Wei, Yin-Xiong Li   +10 more
doaj   +1 more source