Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 1
2018 9
2019 18
2020 17
2021 15
2022 8
2023 9
2024 11
2025 12
2026 9

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

95 results

Results by year

Filters applied: . Clear all
Page 1
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response.
Lim LQJ, Adler L, Hajaj E, Soria LR, Perry RB, Darzi N, Brody R, Furth N, Lichtenstein M, Bab-Dinitz E, Porat Z, Melman T, Brandis A, Malitsky S, Itkin M, Aylon Y, Ben-Dor S, Orr I, Pri-Or A, Seger R, Shaul Y, Ruppin E, Oren M, Perez M, Meier J, Brunetti-Pierri N, Shema E, Ulitsky I, Erez A. Lim LQJ, et al. Nat Metab. 2024 Jul;6(7):1294-1309. doi: 10.1038/s42255-024-01060-5. Epub 2024 Jun 10. Nat Metab. 2024. PMID: 38858597 Free PMC article.
Following acute induction of DNA damage with doxorubicin, ASS1 expression is elevated in the cytosol and the nucleus with at least a partial dependency on p53; ASS1 metabolically restrains cell cycle progression in the cytosol by restricting nucleotide synthesis. In the nucleus, …
Following acute induction of DNA damage with doxorubicin, ASS1 expression is elevated in the cytosol and the nucleus with at least a partial …
Urea cycle disorders-update.
Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K. Matsumoto S, et al. J Hum Genet. 2019 Sep;64(9):833-847. doi: 10.1038/s10038-019-0614-4. Epub 2019 May 20. J Hum Genet. 2019. PMID: 31110235 Review.
This cycle utilizes five enzymes, two of which, carbamoylphosphate synthetase 1 and ornithine transcarbamylase are present in the mitochondrial matrix, whereas the others (argininosuccinate synthetase, argininosuccinate lyase and arginase 1) are present in the cytop …
This cycle utilizes five enzymes, two of which, carbamoylphosphate synthetase 1 and ornithine transcarbamylase are present in the mitochondr …
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á, Kaposi A, Schnabel K, Seidl D, Tory K. Mikó Á, et al. Hum Mutat. 2021 Nov;42(11):1473-1487. doi: 10.1002/humu.24273. Epub 2021 Aug 28. Hum Mutat. 2021. PMID: 34405919
Genotype and clinical data were collected from 9038 patients of European origin with ASL, ATP7B, CAPN3, CFTR, CTNS, DHCR7, GAA, GALNS, GALT, IDUA, MUT, NPHS1, NPHS2, PAH, PKHD1, PMM2, or SLC26A4-related disorders. ...We found 25 variants, 29% of the frequent 85 variants, t …
Genotype and clinical data were collected from 9038 patients of European origin with ASL, ATP7B, CAPN3, CFTR, CTNS, DHCR7, GAA, GALNS …
Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors.
Jalil S, Keskinen T, Juutila J, Sartori Maldonado R, Euro L, Suomalainen A, Lapatto R, Kuuluvainen E, Hietakangas V, Otonkoski T, Hyvönen ME, Wartiovaara K. Jalil S, et al. Am J Hum Genet. 2024 Apr 4;111(4):714-728. doi: 10.1016/j.ajhg.2024.03.004. Am J Hum Genet. 2024. PMID: 38579669 Free PMC article.
Argininosuccinate lyase deficiency (ASLD) is a recessive metabolic disorder caused by variants in ASL. ...Lastly, we tested three different FDA-approved lipid nanoparticle formulations to deliver the ABE-encoding RNA and the sgRNA targeting the ASL var …
Argininosuccinate lyase deficiency (ASLD) is a recessive metabolic disorder caused by variants in ASL. ...Lastly, we te …
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
Baruteau J, Diez-Fernandez C, Lerner S, Ranucci G, Gissen P, Dionisi-Vici C, Nagamani S, Erez A, Häberle J. Baruteau J, et al. J Inherit Metab Dis. 2019 Nov;42(6):1147-1161. doi: 10.1002/jimd.12047. Epub 2019 Feb 5. J Inherit Metab Dis. 2019. PMID: 30723942 Free article. Review.
Over the last decade, novel discoveries enabled by the generation of new transgenic argininosuccinate lyase (ASL)-deficient mouse models have been achieved, such as, a better understanding of ASL and its close interaction with nitric oxide metabolism, …
Over the last decade, novel discoveries enabled by the generation of new transgenic argininosuccinate lyase (ASL)-defic …
Predicting epistasis across proteins by structural logic.
Tang M, Cromie GA, Kabir A, Timour MS, Ashmead J, Lo RS, Corley N, DiMaio F, Morizono H, Caldovic L, Ah Mew N, Gropman A, Shehu A, Dudley AM. Tang M, et al. Proc Natl Acad Sci U S A. 2026 Jan 20;123(3):e2516291123. doi: 10.1073/pnas.2516291123. Epub 2026 Jan 16. Proc Natl Acad Sci U S A. 2026. PMID: 41543897 Free PMC article.
Using mutational scanning in yeast, we identify thousands of such interactions in a clinically important enzyme, human argininosuccinate lyase (ASL). Restoration of protein function is not due to the biochemical properties of the substituted amino acids, but …
Using mutational scanning in yeast, we identify thousands of such interactions in a clinically important enzyme, human argininosuccinate …
LncRNA-mediated regulation of cisplatin response in breast cancer.
Azizidoost S, Sheykhi-Sabzehpoush M, Dari MAG, Józkowiak M, Niebora J, Domagała D, Data K, Dzięgiel P, Mozdziak P, Farzaneh M, Kempisty B. Azizidoost S, et al. Pathol Res Pract. 2024 Dec;264:155716. doi: 10.1016/j.prp.2024.155716. Epub 2024 Nov 7. Pathol Res Pract. 2024. PMID: 39536542 Review.
These lncRNAs include SNHG15, HULC, HCP5, MT1JP, LncMat2B, DLX6-ASL, Linc00665, CARMN, and Lnc-EinRP44-3:6. These lncRNAs have been shown to target microRNAs and mRNAs and modulate the expression of genes involved in cisplatin resistance, which is important in treating bre …
These lncRNAs include SNHG15, HULC, HCP5, MT1JP, LncMat2B, DLX6-ASL, Linc00665, CARMN, and Lnc-EinRP44-3:6. These lncRNAs have been s …
The epithelial sodium channel (ENaC) as a therapeutic target for cystic fibrosis.
Shei RJ, Peabody JE, Kaza N, Rowe SM. Shei RJ, et al. Curr Opin Pharmacol. 2018 Dec;43:152-165. doi: 10.1016/j.coph.2018.09.007. Epub 2018 Oct 16. Curr Opin Pharmacol. 2018. PMID: 30340955 Free PMC article. Review.
CFTR dysfunction is characterized by abnormal mucociliary transport due to a dehydrated airway surface liquid (ASL) and hyperviscous mucus, among other pathologies of host defense. ASL depletion is caused by the absence of CFTR mediated chloride secretion along with …
CFTR dysfunction is characterized by abnormal mucociliary transport due to a dehydrated airway surface liquid (ASL) and hyperviscous …
tRNA modifications as regulators of bacterial virulence and stress responses.
Teixeira C, Vandenesch F, Moreau K. Teixeira C, et al. PLoS Pathog. 2025 Oct 23;21(10):e1013600. doi: 10.1371/journal.ppat.1013600. eCollection 2025 Oct. PLoS Pathog. 2025. PMID: 41129522 Free PMC article. Review.
Transfer RNA (tRNA) is the most modified RNA in the cell, with modifications in the core body of the tRNA primarily affecting the stability and flexibility of the structure while modifications in the anticodon stem-loop (ASL) are more involved in decoding, as well as the e …
Transfer RNA (tRNA) is the most modified RNA in the cell, with modifications in the core body of the tRNA primarily affecting the stability …
Anticodon stem-loop tRNA modifications influence codon decoding and frame maintenance during translation.
Smith TJ, Giles RN, Koutmou KS. Smith TJ, et al. Semin Cell Dev Biol. 2024 Feb 15;154(Pt B):105-113. doi: 10.1016/j.semcdb.2023.06.003. Epub 2023 Jun 28. Semin Cell Dev Biol. 2024. PMID: 37385829 Free PMC article. Review.
In particular, modifications in the anticodon stem-loop (ASL), located near the site of tRNA:mRNA interaction, can play key roles in ensuring protein homeostasis and accurate translation. There is an abundance of evidence indicating the importance of ASL modificatio …
In particular, modifications in the anticodon stem-loop (ASL), located near the site of tRNA:mRNA interaction, can play key roles in …
95 results