Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Human Genetics

• Publication date

  2002-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00439-002-0686-6PMID 11941481
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Urea cycle enzymes

  2001cited by this paper
• Nomenclature for the description of human sequence variations

  2001cited by this paper
• Neonatal presentation of adult-onset type II citrullinemia

  2001cited by this paper
• The HUGO Gene Nomenclature Committee (HGNC)

  2001cited by this paper
• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• Mutation analysis of Korean patients with citrullinemia.

  2000cited by this paper
• Novel 67‐bp insertional mutation in the ASS gene in a patient with citrullinemia

  2000cited by this paper
• The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

  1999cited by this paper
• Mutations and DNA diagnoses of classical citrullinemia

  1997influential reference
• Urea cycle disorders: diagnosis, pathophysiology, and therapy.

  1996cited by this paper
• Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

  1995cited by this paper
• Long-term survival of patients with argininosuccinate synthetase deficiency.

  1995cited by this paper
• Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.

  1994cited by this paper
• Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia.

  1994cited by this paper
• A search for the primary abnormality in adult-onset type II citrullinemia.

  1993cited by this paper
• Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

  1991cited by this paper
• Additional mutations in argininosuccinate synthetase causing citrullinemia.

  1991cited by this paper
• Molecular characterization of the murine argininosuccinate synthetase locus.

  1991cited by this paper
• Prenatal diagnosis of citrullinaemia: Review of a 10‐year experience including recent use of DNA analysis

  1990cited by this paper
• Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

  1990cited by this paper
• Analysis of deletions at the human argininosuccinate synthetase locus.

  1989cited by this paper
• Multilocus linkage analysis with the human argininosuccinate synthetase gene.

  1989cited by this paper
• Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing

  1984cited by this paper
• Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications.

  1984cited by this paper
• Prenatal diagnosis of citrullinemia: Elevated levels of citrulline in the amniotic fluid in the three affected pregnancies

  1984cited by this paper
• Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.

  1984cited by this paper
• Sequence for human argininosuccinate synthetase cDNA.

  1983cited by this paper
• Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.

  1982cited by this paper
• Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line.

  1981cited by this paper
• Citrullinemia: phenotypic variations.

  1976cited by this paper
• Variants of citrullinaemia.

  1973cited by this paper

• Expert consensus on the combined screening of genes and biomarkers for neonatal diseases

  2025cites this paper
• Case Report: From coma to genetic insights: identification of a novel pathogenic variant in Chinese neonatal CTLN1

  2025cites this paper
• Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders

  2024cites this paper
• Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants

  2023cites this paper
• Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I

  2023cites this paper
• Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

  2023cites this paper
• Pathogenesis and Management of Citrin Deficiency

  2023cites this paper
• Identification of Novel Mutations in Chinese Infants With Citrullinemia

  2022cites this paper
• Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.

  2021cites this paper
• Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation

  2021cites this paper
• Living Donor Liver Transplantation in a Paediatric Patient With Citrullinaemia Type 2.

  2020cites this paper
• Clinical and Biochemical Profiles of Filipino Patients with Distal Urea Cycle Disorders Detected by Abnormal Expanded Newborn Screening

  2020cites this paper
• Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

  2020cites this paper
• ASS1 Gene

  2020cites this paper
• Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

  2019cites this paper
• Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

  2018cites this paper
• Adult-onset type II citrullinemia: Current insights and therapy

  2018cites this paper
• Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia

  2018cites this paper
• Diagnosis of citrullinemia type 1 carriage after identification of mild citrullinemia on neonatal screening

  2018cites this paper
• Citrulline metabolism in plants

  2017cites this paper
• Identification of three novel mutations in fourteen patients with citrullinemia type 1.

  2017influential citation
• Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

  2017influential citation
• Citrullinemia Type I - A Case Report

  2016cites this paper
• Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation

  2016cites this paper
• Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.

  2015cites this paper
• Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

  2014cites this paper
• Plasma citrulline level as a biomarker for cancer therapy-induced small bowel mucosal damage.

  2014cites this paper
• The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia

  2014cites this paper
• Molecular genetics of citrullinemia types I and II.

  2014cites this paper
• Mutation analysis of urea cycle disorders

  2014cites this paper
• Citrullinemia type 1: Genetic diagnosis and prenatal diagnosis in subsequent pregnancy

  2013cites this paper
• Molecular diagnosis of urea cycle disorders: current global scenario.

  2013cites this paper
• Unrecognized Citrullinemia Mimicking Encephalitis in a 14-Year-Old Boy: Unexpected Result Through the Use of a Standardized Lumbar Puncture Protocol

  2012cites this paper
• Leishmania donovani Argininosuccinate Synthase Is an Active Enzyme Associated with Parasite Pathogenesis

  2012cites this paper
• 30-year follow-up of a patient with classic citrullinemia.

  2012cites this paper
• Liver Transplantation in an Adult with Citrullinaemia Type 2

  2011cites this paper
• Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

  2011cites this paper
• Citrullinaemia type I: A common mutation in the Pacific Island population

  2011cites this paper
• Transient fulminant liver failure as an initial presentation in citrullinemia type I.

  2011cites this paper
• Expression of recombinant human argininosuccinate synthetase in Escherichia coli

  2011cites this paper
• Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis.

  2010influential citation
• Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

  2010cites this paper
• The Diagnosis and Management of a Female With Mild Citrullinemia and Undetectable Argininosuccinate Synthetase Activity in Fibroblasts

  2009cites this paper
• Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.

  2009cites this paper
• Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

  2009cites this paper
• Multi-level regulation of argininosuccinate synthase: Significance for endothelial nitric oxide production

  2008cites this paper
• Investigation of citrullinemia type I variants by in vitro expression studies

  2008influential citation
• Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

  2006cites this paper
• Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia

  2006influential citation
• Una aproximación a los desórdenes hereditarios del ciclo de la urea en el hombre.

  2005cites this paper
• Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.

  2005cites this paper
• Elevated plasma citrulline and arginine due to consumption of Citrullus vulgaris (watermelon)

  2005cites this paper
• Almost all about citrulline in mammals

  2005cites this paper
• Genetic approach to prenatal diagnosis in urea cycle defects

  2004cites this paper
• Pregnancy in a healthy woman with untreated citrullinemia

  2004influential citation
• Aus dem Klinikum am Steinenberg Reutlingen Akademisches Lehrkrankenhaus der Universität Tübingen Klinik für Kinder- und Jugendmedizin

  2004cites this paper
• Neonatal screening for citrullinaemia

  2003cites this paper
• Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients

  2003influential citation
• Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase

  2003cites this paper
• Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

  2003cites this paper