Pascual JM - Search Results

1

Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.

Meyer K, Kirchner M, Uyar B, Cheng JY, Russo G, Hernandez-Miranda LR, Szymborska A, Zauber H, Rudolph IM, Willnow TE, Akalin A, Haucke V, Gerhardt H, Birchmeier C, Kühn R, Krauss M, Diecke S, Pascual JM, Selbach M. Meyer K, et al. Among authors: pascual jm. Cell. 2018 Sep 20;175(1):239-253.e17. doi: 10.1016/j.cell.2018.08.019. Epub 2018 Sep 6. Cell. 2018. PMID: 30197081 Free article.

2

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

Lee EE, Ma J, Sacharidou A, Mi W, Salato VK, Nguyen N, Jiang Y, Pascual JM, North PE, Shaul PW, Mettlen M, Wang RC. Lee EE, et al. Among authors: pascual jm. Mol Cell. 2015 Jun 4;58(5):845-53. doi: 10.1016/j.molcel.2015.04.015. Epub 2015 May 14. Mol Cell. 2015. PMID: 25982116 Free PMC article.

3

Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.

Wang D, Yang H, Shi L, Ma L, Fujii T, Engelstad K, Pascual JM, De Vivo DC. Wang D, et al. Among authors: pascual jm. Pediatr Res. 2008 Nov;64(5):538-43. doi: 10.1203/PDR.0b013e318184d2b5. Pediatr Res. 2008. PMID: 18614966

4

Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency.

Wang D, Pascual JM, Iserovich P, Yang H, Ma L, Kuang K, Zuniga FA, Sun RP, Swaroop KM, Fischbarg J, De Vivo DC. Wang D, et al. Among authors: pascual jm. J Biol Chem. 2003 Dec 5;278(49):49015-21. doi: 10.1074/jbc.M308765200. Epub 2003 Sep 16. J Biol Chem. 2003. PMID: 13129919 Free article.

5

Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.

Pascual JM, Wang D, Yang R, Shi L, Yang H, De Vivo DC. Pascual JM, et al. J Biol Chem. 2008 Jun 13;283(24):16732-42. doi: 10.1074/jbc.M801403200. Epub 2008 Apr 3. J Biol Chem. 2008. PMID: 18387950 Free PMC article.

6

[Glucose transport hereditary diseases].

Pascual JM. Pascual JM. Med Clin (Barc). 2006 Nov 11;127(18):709-14. doi: 10.1157/13095099. Med Clin (Barc). 2006. PMID: 17169300 Spanish.

7

[Progresses in studies on the glucose transporter deficiency syndrome].

Wang D, Sun RP, Wang X, Yang R, Yang H, Pascual JM, De Vivo DC. Wang D, et al. Among authors: pascual jm. Zhonghua Er Ke Za Zhi. 2004 Oct;42(10):756-8. Zhonghua Er Ke Za Zhi. 2004. PMID: 16221345 Chinese. No abstract available.

8

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.

Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC. Brockmann K, et al. Among authors: pascual jm. Ann Neurol. 2001 Oct;50(4):476-85. doi: 10.1002/ana.1222. Ann Neurol. 2001. PMID: 11603379

9

GLUT1 deficiency and other glucose transporter diseases.

Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC. Pascual JM, et al. Eur J Endocrinol. 2004 May;150(5):627-33. doi: 10.1530/eje.0.1500627. Eur J Endocrinol. 2004. PMID: 15132717 Review.

10

Epilepsy in inherited metabolic disorders.

Pascual JM, Campistol J, Gil-Nagel A. Pascual JM, et al. Neurologist. 2008 Nov;14(6 Suppl 1):S2-S14. doi: 10.1097/01.nrl.0000340787.30542.41. Neurologist. 2008. PMID: 19225367 Review.

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