Results 11 to 20 of about 27,759 (158)

Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells. [PDF]

Cancer Metab, 2013
Loss of function of fumarate hydratase (FH), the mitochondrial tumor suppressor and tricarboxylic acid (TCA) cycle enzyme, is associated with a highly malignant form of papillary and collecting duct renal cell cancer.
Zheng L, MacKenzie ED, Karim SA, Hedley A, Blyth K, Kalna G, Watson DG, Szlosarek P, Frezza C, Gottlieb E.   +9 more
europepmc   +10 more sources

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay [PDF]

Frontiers in Genetics, 2019
ObjectiveArgininosuccinate lyase (ASL) gene mutations account for argininosuccinic aciduria (ASA). This study aimed to design a minigene construct of ASL gene in order to investigate the impact of variants on splicing.MethodsThe peripheral blood samples ...
Yanyun Wang, Yun Sun, Ming Liu, Xiaojuan Zhang, Tao Jiang, Tao Jiang   +5 more
doaj   +2 more sources

One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency. [PDF]

JIMD Rep, 2015
Argininosuccinate lyase deficiency (ASLD) is a urea cycle disorder (UCD) treated with dietary adjustment and nitrogen scavenging agents. "Pheburane (R)" is a new tasteless and odour-free formulation of sodium phenylbutyrate, indicated in the treatment of
Uçar SK, Ozbaran B, Altinok YA, Kose M, Canda E, Kagnici M, Coker M.   +6 more
europepmc   +3 more sources

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency [PDF]

Molecular Genetics and Metabolism Reports, 2019
Argininosuccinate lyase (ASL) deficiency impairs the function of the urea cycle that detoxifies blood ammonia in the body. Mutation that occurs in the ASL gene is the cause of occurrence of ASL deficiency (ASLD).
Ernie Zuraida Ali, Yusnita Yakob, Lock Hock Ngu   +2 more
doaj   +2 more sources

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency. [PDF]

Biomed Res Int, 2019
Pathogenic variants in the argininosuccinate lyase (ASL) gene have been shown to cause argininosuccinate lyase deficiency (ASLD); therefore, sequencing analysis offers advantages for prenatal testing and counseling in families afflicted with this ...
Zhao M, Hou L, Teng H, Li J, Wang J, Zhang K, Yang L.   +6 more
europepmc   +2 more sources

Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression [PDF]

JCI Insight, 2023
Nitric oxide (NO) is a critical signaling molecule that has been implicated in the pathogenesis of neurocognitive diseases. Both excessive and insufficient NO production have been linked to pathology.
Jordan Kho, Urszula Polak, Ming-Ming Jiang, John D. Odom, Jill V. Hunter, Saima M. Ali, Lindsay C. Burrage, Sandesh C.S. Nagamani, Robia G. Pautler, Hannah P. Thompson, Akihiko Urayama, Zixue Jin, Brendan Lee   +12 more
doaj   +2 more sources

Requirement of argininosuccinate lyase for systemic nitric oxide production. [PDF]

Nat Med, 2011
Nitric oxide (NO) is crucial in diverse physiological and pathological processes. We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency.
Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B.   +21 more
europepmc   +2 more sources

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China [PDF]

Orphanet Journal of Rare Diseases
Background Argininosuccinate lyase deficiency (ASLD) is a rare autosomal recessive urea cycle disorder (UCD) resulting from mutations in the ASL gene.
Kaichuang Zhang, Deyun Lu, Lili Liang, Yi Yang, Ruifang Wang, Yuning Sun, Zhuwen Gong, Haijuan Zhi, Wenjuan Qiu, Lianshu Han   +9 more
doaj   +2 more sources

Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation [PDF]

Stem Cell Research
Argininosuccinic aciduria (ASA) is a rare inherited metabolic disease caused by argininosuccinate lyase (ASL) deficiency. Patients with ASA present with hyperammonaemia due to an impaired urea cycle pathway in the liver, and systemic disease with ...
Claire Duff, Madeha Islam, Onelia Gagliano, Hema Pramod, Hassan Rashidi, Manju Kurian, Paul Gissen, Julien Baruteau   +7 more
doaj   +5 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 Reports, Volume 67, Issue 6, November 2026.
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
Mouna Zribi, Mariem Bhouri, Safa Khatrouch, Hela Boudabous, Johannes Häberle, Mohamed Slim Abdelmoula, Amel Ben Chehida   +6 more
wiley   +2 more sources