Delpire E - Search Results

1

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A, Newbury-Ecob R, Fallerini C, Renieri A, Lopergolo D, Mari F, Blanchet C, Willems M, Roux AF, Pippucci T, Delpire E. McNeill A, et al. Among authors: delpire e. Brain. 2020 Aug 1;143(8):2380-2387. doi: 10.1093/brain/awaa176. Brain. 2020. PMID: 32658972 Free PMC article.

2

A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.

Delpire E, Wolfe L, Flores B, Koumangoye R, Schornak CC, Omer S, Pusey B, Lau C, Markello T, Adams DR. Delpire E, et al. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001289. doi: 10.1101/mcs.a001289. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900370 Free PMC article.

3

On the substrate recognition and negative regulation of SPAK, a kinase modulating Na+-K+-2Cl- cotransport activity.

Gagnon KB, Delpire E. Gagnon KB, et al. Among authors: delpire e. Am J Physiol Cell Physiol. 2010 Sep;299(3):C614-20. doi: 10.1152/ajpcell.00074.2010. Epub 2010 May 12. Am J Physiol Cell Physiol. 2010. PMID: 20463172 Free PMC article.

4

Functional insights into the activation mechanism of Ste20-related kinases.

Gagnon KB, Rios K, Delpire E. Gagnon KB, et al. Among authors: delpire e. Cell Physiol Biochem. 2011;28(6):1219-30. doi: 10.1159/000335854. Epub 2011 Dec 16. Cell Physiol Biochem. 2011. PMID: 22179010 Free PMC article.

5

Physiology and pathophysiology of SLC12A1/2 transporters.

Markadieu N, Delpire E. Markadieu N, et al. Among authors: delpire e. Pflugers Arch. 2014 Jan;466(1):91-105. doi: 10.1007/s00424-013-1370-5. Epub 2013 Oct 6. Pflugers Arch. 2014. PMID: 24097229 Free PMC article. Review.

6

Mistargeting of a truncated Na-K-2Cl cotransporter in epithelial cells.

Koumangoye R, Omer S, Delpire E. Koumangoye R, et al. Among authors: delpire e. Am J Physiol Cell Physiol. 2018 Aug 1;315(2):C258-C276. doi: 10.1152/ajpcell.00130.2018. Epub 2018 May 2. Am J Physiol Cell Physiol. 2018. PMID: 29719172 Free PMC article.

7

A dileucine motif in the COOH-terminal domain of NKCC1 targets the cotransporter to the plasma membrane.

Koumangoye R, Omer S, Delpire E. Koumangoye R, et al. Among authors: delpire e. Am J Physiol Cell Physiol. 2019 Apr 1;316(4):C545-C558. doi: 10.1152/ajpcell.00023.2019. Epub 2019 Mar 13. Am J Physiol Cell Physiol. 2019. PMID: 30865516 Free PMC article.

8

A mutation in the Na-K-2Cl cotransporter-1 leads to changes in cellular metabolism.

Omer S, Koumangoye R, Delpire E. Omer S, et al. Among authors: delpire e. J Cell Physiol. 2020 Oct;235(10):7239-7250. doi: 10.1002/jcp.29623. Epub 2020 Feb 10. J Cell Physiol. 2020. PMID: 32039487 Free PMC article.

9

Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism.

Wang J, Poliquin S, Mermer F, Eissman J, Delpire E, Wang J, Shen W, Cai K, Li BM, Li ZY, Xu D, Nwosu G, Flamm C, Liao WP, Shi YW, Kang JQ. Wang J, et al. Among authors: delpire e. Mol Brain. 2020 May 12;13(1):76. doi: 10.1186/s13041-020-00612-6. Mol Brain. 2020. PMID: 32398021 Free PMC article.

10

NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.

Koumangoye R, Bastarache L, Delpire E. Koumangoye R, et al. Among authors: delpire e. Function (Oxf). 2021;2(1):zqaa028. doi: 10.1093/function/zqaa028. Epub 2020 Nov 3. Function (Oxf). 2021. PMID: 33345190 Free PMC article. Review.

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