Results 11 to 20 of about 1,305 (130)

Severe isolated sulfide oxidase deficiency with a novel mutation [PDF]

The Turkish Journal of Pediatrics, 2021
Background. Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity.
Meriç Ergene, Nuriye Yarar, Elif Perihan Öncel, Taner Sezer, Büşranur Çavdarlı, İsmail Zafer Ecevit, Halil İbrahim Aydın   +6 more
doaj   +2 more sources

Novel Gene Abnormality in Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome) [PDF]

Translation, 2023
Introduction: Doose Syndrome is a myoclonic-atonic seizure disorder most prominent in the pediatric population. Several common genetic mutations have been identified.
Rayan Magsi, Casey Ryan, Ajaz Sheikh, Mariam Noor, Naeem Mahfooz   +4 more
doaj   +2 more sources

Increased hippocampal excitability in miR-324-null mice [PDF]

Scientific Reports, 2021
MicroRNAs are non-coding RNAs that act to downregulate the expression of target genes by translational repression and degradation of messenger RNA molecules.
Dan J. Hayman, Tamara Modebadze, Sarah Charlton, Kat Cheung, Jamie Soul, Hua Lin, Yao Hao, Colin G. Miles, Dimitra Tsompani, Robert M. Jackson, Michael D. Briggs, Katarzyna A. Piróg, Ian M. Clark, Matt J. Barter, Gavin J. Clowry, Fiona E. N. LeBeau, David A. Young   +16 more
doaj   +2 more sources

Expression of genes, encoding the enzymes of cysteine metabolism in human placenta in the first and third trimesters of uncomplicated pregnancy [PDF]

The Ukrainian Biochemical Journal, 2016
The cellular cysteine is highly regulated in a narrow range of concentrations due to its cyto- and neurtoxicity when it is overwhelmed or its deficiency for protein synthesis and other vital metabolic reactions when its amount is restricted.
K. L. Korneeva, R. R. Rodriguez, S. V. Ralchenko, O. V. Martunovska, A. О. Frolova, O. P. Martsenyuk, L. V. Manzhula, V. T. Melnyk, O. Y. Shkoropad, M. Yu. Obolenska   +9 more
doaj   +3 more sources

Transcriptional analysis reveals the suppression of RAD51 and disruption of the homologous recombination pathway during PEDV infection in IPEC-J2 cells

Virology Journal
PEDV is a highly contagious enteric pathogen that can cause severe diarrhea and death in neonatal pigs. Despite extensive research, the molecular mechanisms of host’s response to PEDV infection remain unclear.
Li Sun, Changfu Cao, Jianbo Yang, Jian Jin   +3 more
doaj   +2 more sources

Prenatal brain disruption in isolated sulfite oxidase deficiency

Orphanet Journal of Rare Diseases, 2017
Background Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after ...
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee   +4 more
doaj   +2 more sources

Guest Molecule Insertion-Optimized d‑Band Center Position in MoS₂ with Improved Sulfite Activation Ability Inspired by Sulfite Oxidase

, 2023
As a prospective member in the family of advanced oxidation processes (AOPs), heterogeneous sulfite activation shows low cost and high safety for poisonous organic pollutants’ degradation. To obtain an efficient sulfite activator, sulfite oxidase (SuOx),
Wei Xu (28953), Qiang Wang (32383), Xinxin Xu (690528), Xia Zhang (41398), Jin Chen (130241)   +4 more
core   +4 more sources

LATS1/2-CD38 Metabolic Rewiring Links Senescence to Intraplaque Thrombosis. [PDF]

Circ Res
International audienceBACKGROUND: Atherothrombosis, which underlies most acute coronary syndromes and is driven by intraplaque thrombosis, preferentially occurs in regions of disturbed blood flow (d-flow). Although LATS1/2 (large tumor suppressor kinases
Kotla S, Lee J, Ko KA, Chen W, Samanthapudi VSK, Hoang O, Mejia GF, Li S, Lee H, Zhang A, Cho MS, Schadler KL, Rivera LA, Imanishi M, Tavares Samperio KC, Kim JH, Ostos-Mendoza KC, Mariscal-Reyes KN, Deswal A, Cooke JP, Fujiwara K, Palaskas NL, Koutroumpakis E, Gi YJ, Pathania R, Morrell C, Lorenzi PL, Tan L, Mahmud I, Hanssen NMJ, Afshar-Kharghan V, Hamilton DJ, Yvan-Charvet L, Chini EN, Herrmann J, Vasquez HG, Shen YH, Martin JF, Xu H, Seeley EH, Burks JK, Brookes PS, Wang G, Le NT, Abe JI.   +44 more
europepmc   +2 more sources

A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency [PDF]

, 2022
Isolated sulfite oxidase deficiency (ISOD) is a rare recessive and infantile lethal metabolic disorder, which is caused by functional loss of sulfite oxidase (SO) due to mutations of the SUOX gene.
Liebau, Max Christoph, Santamaria‐Araujo, José Angel, Kohl, Joshua Benedict, Guenter Schwarz, Max Christoph Liebau, Daniel Bender, Titus Gehling, Sebahattin Cirak, Gehling, Titus, Joshua Benedict Kohl, José Angel Santamaria‐Araujo, Daimagüler, Hülya‐Sevcan, Alexander Tobias Kaczmarek, Anne Koy, Bender, Daniel, Koy, Anne, Hülya‐Sevcan Daimagüler, Cirak, Sebahattin, Schwarz, Guenter; https://orcid.org/, Kaczmarek, Alexander Tobias   +19 more
core   +1 more source

Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review [version 1; peer review: 2 approved]

HRB Open Research, 2021
Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase), the
Niamh McSweeney, Brian McNamara, Geraldine B Boylan, Carol M Stephens, Andreea M Pavel, Brian H Walsh, Sean R Mathieson   +6 more
doaj   +1 more source