Fenollar-Ferrer C - Search Results

1

Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.

Tona R, Inagaki S, Ishibashi Y, Faridi R, Yousaf R, Roux I, Wilson E, Fenollar-Ferrer C, Chien WW, Belyantseva IA, Friedman TB. Tona R, et al. Among authors: fenollar ferrer c. J Biol Chem. 2024 Sep;300(9):107725. doi: 10.1016/j.jbc.2024.107725. Epub 2024 Aug 28. J Biol Chem. 2024. PMID: 39214300 Free PMC article.

2

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R, Yousaf R, Inagaki S, Olszewski R, Gu S, Morell RJ, Wilson E, Xia Y, Qaiser TA, Rashid M, Fenollar-Ferrer C, Hoa M, Riazuddin S, Friedman TB. Faridi R, et al. Among authors: fenollar ferrer c. Genes (Basel). 2024 Jun 27;15(7):845. doi: 10.3390/genes15070845. Genes (Basel). 2024. PMID: 39062623 Free PMC article.

3

SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac.

Lee HJ, Fenollar-Ferrer C, Isgrig K, Wang YX, Valente K, Eide J, Honda K, Chien WW, Petralia RS, Dong L, Friedman TB, Bonifacino JS, Griffith AJ, Roux I. Lee HJ, et al. Among authors: fenollar ferrer c. Sci Adv. 2024 Oct 11;10(41):eadm8663. doi: 10.1126/sciadv.adm8663. Epub 2024 Oct 9. Sci Adv. 2024. PMID: 39383236 Free PMC article.

4

Glial swip-10 controls systemic mitochondrial function, oxidative stress, and neuronal viability via copper ion homeostasis.

Rodriguez P, Kalia V, Fenollar-Ferrer C, Gibson CL, Gichi Z, Rajoo A, Matier CD, Pezacki AT, Xiao T, Carvelli L, Chang CJ, Miller GW, Khamoui AV, Boerner J, Blakely RD. Rodriguez P, et al. Among authors: fenollar ferrer c. Proc Natl Acad Sci U S A. 2024 Sep 24;121(39):e2320611121. doi: 10.1073/pnas.2320611121. Epub 2024 Sep 17. Proc Natl Acad Sci U S A. 2024. PMID: 39288174

5

Tentonin 3 is a pore-forming subunit of a slow inactivation mechanosensitive channel.

Pak S, Ryu H, Lim S, Nguyen TL, Yang S, Kang S, Yu YG, Woo J, Kim C, Fenollar-Ferrer C, Wood JN, Lee MO, Hong GS, Han K, Kim TS, Oh U. Pak S, et al. Among authors: fenollar ferrer c. Cell Rep. 2024 Jun 25;43(6):114334. doi: 10.1016/j.celrep.2024.114334. Epub 2024 Jun 7. Cell Rep. 2024. PMID: 38850532 Free PMC article.

6

CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.

Roux I, Fenollar-Ferrer C, Lee HJ, Chattaraj P, Lopez IA, Han K, Honda K, Brewer CC, Butman JA, Morell RJ, Martin DM, Griffith AJ. Roux I, et al. Among authors: fenollar ferrer c. Hum Genet. 2023 Oct;142(10):1499-1517. doi: 10.1007/s00439-023-02581-x. Epub 2023 Sep 5. Hum Genet. 2023. PMID: 37668839 Free PMC article.

7

Insights into autoregulation of a membrane protein complex by its cytoplasmic domains.

Leone V, Bradshaw RT, Koshy C, Lee PS, Fenollar-Ferrer C, Heinz V, Ziegler C, Forrest LR. Leone V, et al. Among authors: fenollar ferrer c. Biophys J. 2023 Feb 7;122(3):577-594. doi: 10.1016/j.bpj.2022.12.021. Epub 2022 Dec 17. Biophys J. 2023. PMID: 36528790 Free PMC article.

8

Editor's Note: Peptide Aptamers Targeting Mutant p53 Induce Apoptosis in Tumor Cells.

Guida E, Bisso A, Fenollar-Ferrer C, Napoli M, Anselmi C, Girardini JE, Carloni P, Sal GD. Guida E, et al. Among authors: fenollar ferrer c. Cancer Res. 2022 May 3;82(9):1844. doi: 10.1158/0008-5472.CAN-22-0459. Cancer Res. 2022. PMID: 35502549 No abstract available.

9

Disrupted Choline Clearance and Sustained Acetylcholine Release In Vivo by a Common Choline Transporter Coding Variant Associated with Poor Attentional Control in Humans.

Donovan E, Avila C, Klausner S, Parikh V, Fenollar-Ferrer C, Blakely RD, Sarter M. Donovan E, et al. Among authors: fenollar ferrer c. J Neurosci. 2022 Apr 20;42(16):3426-3444. doi: 10.1523/JNEUROSCI.1334-21.2022. Epub 2022 Mar 1. J Neurosci. 2022. PMID: 35232764 Free PMC article.

10

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Faridi R, Rea A, Fenollar-Ferrer C, O'Keefe RT, Gu S, Munir Z, Khan AA, Riazuddin S, Hoa M, Naz S, Newman WG, Friedman TB. Faridi R, et al. Among authors: fenollar ferrer c. Hum Genet. 2022 Apr;141(3-4):805-819. doi: 10.1007/s00439-021-02319-7. Epub 2021 Aug 2. Hum Genet. 2022. PMID: 34338890 Free PMC article. Review.

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