Ruiz A - Search Results

1

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance.

Ruiz A, Dror E, Handschin C, Furrer R, Perez-Schindler J, Bachmann C, Treves S, Zorzato F. Ruiz A, et al. Sci Rep. 2018 Jan 12;8(1):636. doi: 10.1038/s41598-017-18844-3. Sci Rep. 2018. PMID: 29330505 Free PMC article.

2

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Elbaz M, Ruiz A, Eckhardt J, Pelczar P, Muntoni F, Boncompagni S, Treves S, Zorzato F. Elbaz M, et al. Among authors: ruiz a. Hum Mol Genet. 2019 Jun 1;28(11):1872-1884. doi: 10.1093/hmg/ddz025. Hum Mol Genet. 2019. PMID: 30689883

3

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.

Elbaz M, Ruiz A, Bachmann C, Eckhardt J, Pelczar P, Venturi E, Lindsay C, Wilson AD, Alhussni A, Humberstone T, Pietrangelo L, Boncompagni S, Sitsapesan R, Treves S, Zorzato F. Elbaz M, et al. Among authors: ruiz a. Hum Mol Genet. 2019 Sep 15;28(18):2987-2999. doi: 10.1093/hmg/ddz092. Hum Mol Genet. 2019. PMID: 31044239

4

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.

Eckhardt J, Bachmann C, Benucci S, Elbaz M, Ruiz A, Zorzato F, Treves S. Eckhardt J, et al. Among authors: ruiz a. Hum Mol Genet. 2020 May 28;29(8):1330-1339. doi: 10.1093/hmg/ddaa056. Hum Mol Genet. 2020. PMID: 32242214

5

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.

Elbaz M, Ruiz A, Nicolay S, Tupini C, Bachmann C, Eckhardt J, Benucci S, Pelczar P, Treves S, Zorzato F. Elbaz M, et al. Among authors: ruiz a. J Biol Chem. 2020 Jul 24;295(30):10331-10339. doi: 10.1074/jbc.RA120.013846. Epub 2020 Jun 4. J Biol Chem. 2020. PMID: 32499372 Free PMC article.

6

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors.

Ruiz A, Benucci S, Duthaler U, Bachmann C, Franchini M, Noreen F, Pietrangelo L, Protasi F, Treves S, Zorzato F. Ruiz A, et al. Elife. 2022 Mar 3;11:e73718. doi: 10.7554/eLife.73718. Elife. 2022. PMID: 35238775 Free PMC article.

7

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.

Eckhardt J, Ruiz A, Koenig S, Frieden M, Meier H, Schmidt A, Treves S, Zorzato F. Eckhardt J, et al. Among authors: ruiz a. Elife. 2023 Mar 2;12:e83618. doi: 10.7554/eLife.83618. Elife. 2023. PMID: 36862731 Free PMC article.

8

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.

Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, Lindsay C, Pelczar P, Pietrangelo L, Protasi F, Treves S, Zorzato F. Benucci S, et al. Among authors: ruiz a. J Gen Physiol. 2024 Apr 1;156(4):e202313486. doi: 10.1085/jgp.202313486. Epub 2024 Mar 4. J Gen Physiol. 2024. PMID: 38445312 Free PMC article.

9

Ancient DNA Reveals the Earliest Evidence of Sheep Flocks During the Late Fourth and Third Millennia BC in Southern Iberia.

Anaya G, Garrido JM, Riquelme JA, Martínez RM, Membrillo A, Caro JA, Pajuelo A, Ruiz A, Martín de la Cruz JC, Molina A. Anaya G, et al. Among authors: ruiz a. Animals (Basel). 2024 Dec 20;14(24):3693. doi: 10.3390/ani14243693. Animals (Basel). 2024. PMID: 39765596

10

Parasite Screening in Wild Passerines: Enhancing Diagnostic Approaches in Wildlife Rehabilitation Centers.

Rebelo CF, Ruiz AC, Alvarado-Piqueras A, González FG, Carvalho LM. Rebelo CF, et al. Among authors: ruiz ac. Animals (Basel). 2024 Dec 19;14(24):3664. doi: 10.3390/ani14243664. Animals (Basel). 2024. PMID: 39765569

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,788 results

Search Page

Filters