Results 51 to 60 of about 115,827,059 (170)

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Scientific Reports, 2022
Untargeted metabolomics is a global molecular profiling technology that can be used to screen for inborn errors of metabolism (IEMs). Metabolite perturbations are evaluated based on current knowledge of specific metabolic pathway deficiencies, a manual ...
Lillian R. Thistlethwaite, Xiqi Li, Lindsay C. Burrage, Kevin Riehle, Joseph G. Hacia, Nancy Braverman, Michael F. Wangler, Marcus J. Miller, Sarah H. Elsea, Aleksandar Milosavljevic   +9 more
doaj   +1 more source

Optimizing gene therapy for infant mice with citrullinemia type 1

, 2023
Citrullinemia type 1 (CTLN1) is a rare genetic disorder that is inherited in an autosomal recessive manner. It is caused by mutations in the gene that encodes argininosuccinate synthetase 1 (ASS1), which catalyzes the formation of argininosuccinate from citrulline and the aspartic acid in the urea cycle.
openaire   +2 more sources

Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs

Biochemical and Biophysical Research Communications, 2017
Citrullinemia type 1 (CTLN1) is a urea cycle disorder (UCD) caused by mutations of the ASS1 gene, which is responsible for production of the enzyme argininosuccinate synthetase (ASS), and classically presented as life-threatening hyperammonemia in newborns. Therapeutic options are limited, and neurological sequelae may persist.
Elena Yukie, Yoshitoshi-Uebayashi, Taro, Toyoda, Katsutaro, Yasuda, Maki, Kotaka, Keiko, Nomoto, Keisuke, Okita, Kentaro, Yasuchika, Shinya, Okamoto, Noriyuki, Takubo, Toshiya, Nishikubo, Tomoyoshi, Soga, Shinji, Uemoto, Kenji, Osafune   +12 more
openaire   +3 more sources

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

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

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

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

A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

Molecular Genetics and Metabolism Reports, 2020
Background: Citrullinemia type I (CTLN1, MIM #215700) is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate synthase (ASS).
Eri Imagawa, George A. Diaz, Kimihiko Oishi   +2 more
doaj   +1 more source