Dr. Juan Pascual

Academic training

M.D. 1990 Universidad de Granada, Facultad de Medicina, Granada, Spain.

Ph.D. 1995 (Molecular Physiology and Biophysics). Surface map of a potassium channel pore revealed by targeted molecular probing.  Baylor College of Medicine, Houston, Texas.  Thesis advisor: Arthur M. Brown, M.D., Ph.D.

Traineeship

1/1995 - 2/1995 Postdoctoral Associate in the laboratory of Arthur M. Brown, McCollum Professor and Chairman.  Department of Molecular Physiology and Biophysics, Baylor College of Medicine.

2/1995 - 6/1997 Postdoctoral Research Scientist, Center for Molecular Recognition, associated with Arthur Karlin, Ph.D., Higgins Professor of Biochemistry, Physiology and Neurology, and director of the Center for Molecular Recognition, Columbia University College of Physicians and Surgeons.

7/1998 – 6/1999 Resident physician.  Department of Pediatrics, St. Louis Children's Hospital, Washington University Medical Center, St. Louis, Missouri.

7/1999 – 6/2002 Pediatric Neurology resident.  Neurological Institute of New York, New York Presbyterian Hospital, Columbia University College of Physicians and Surgeons.

Professional memberships

Society for Neuroscience

Biophysical Society

Society of General Physiologists

American Academy of Neurology

Academic appointments

7/2002 – present Assistant Professor, Departments of Neurology and Pediatrics, Columbia University College of Physicians and Surgeons.

7/ 1998 – 6/1999 Visiting Associate in Neurology, Division of Pediatric Neurology, Department of Neurology, Columbia University College of Physicians and Surgeons.

7/1997 - 6/1998 Associate in Neurology, Division of Pediatric Neurology, Department of Neurology, Columbia University College of Physicians and Surgeons.

Honors

Pregraduate Research Award Internship.  Department of Physiology and Biophysics. Universidad de Málaga School of Medicine, Málaga, Spain.  1986-1989.

Pregraduate Research Award.  Regional Government of Andalucía, Spain.  1988-1989.

Research Fellowship.  Cajal Institute for Neurobiology, Consejo        Superior de Investigaciones Científicas, Madrid, Spain. 1989.  Reawarded in 1990.

Biographical sketch, Who’s Who in America (Science and Engineering).

Invited seminars

University of California School of Medicine, Los Angeles, California. February 1995; Department of Pediatrics.

Case Western Reserve University School of Medicine, Cleveland, Ohio.  October      1995; Rammelkamp Center for Research.

Stanford University School of Medicine, Stanford, California.  November 1995; Beckman Center for Molecular and Genetic Medicine, Howard Hughes Medical        Institute.

Mount Sinai School of Medicine, New York, New York.  December 1995; Department of Physiology and Biophysics.

Universidad de Sevilla, Facultad de Medicina, Spain.  May 1996; Department of     Physiology and Biophysics.

Universidad de Málaga, Facultad de Ciencias, Spain.  May 1996; Department of Cell Biology and Genetics.

Case Western Reserve University School of Medicine, Cleveland, Ohio.  June 1998; Rammelkamp Center for Research.

Baylor College of Medicine, Houston, Texas. April 2001; Department of Molecular    Physiology and Biophysics.

Grant support

7/ 1997 – 6/2006 Neurological Sciences Academic Development Award Scholar, National Institute of Neurological Disorders and Stroke.

Other professional activities

Chairman, session on Nicotinic Acetylcholine Receptors, Society for Neuroscience    1996 Annual Meeting, Washington, D.C.

Scientific Review Board of the Alzheimer's Association, 1998-present.

Articles

Functional role of a conserved aspartate residue in voltage-dependent K⁺ channels. (1995) G. E. Kirsch, J. M. Pascual, C. C. Shieh. Biophys. J. 68: 1084-1813.

K⁺ pore structure revealed by reporter cysteines at inner and outer surfaces. (1995) J. M. Pascual, C. C. Shieh, G. E. Kirsch, A. M. Brown. Neuron 14: 1055-1063.

Multiple residues specify external tetraethylammonium blockade in voltage-gated potassium channels. (1995) J. M. Pascual, C. C. Shieh, G. E. Kirsch, A. M. Brown. Biophys. J. 69: 428-434.

Contribution of the  N-terminus of Kv2.1 to channel activation. (1997) J. M. Pascual, C. C. Shieh, G. E. Kirsch, A. M. Brown.  Am. J. Physiol. 273: C1849-C1858.

State-dependent accessibility and electrostatic potential in the channel of the acetylcholine receptor. (1998)  J. M. Pascual, A. Karlin. J. Gen. Physiol. 111: 717-739.

Delimiting the binding site for quaternary ammonium lidocaine derivatives in the acetylcholine receptor channel. (1998)  J. M. Pascual, A. Karlin. J. Gen. Physiol. 112: 611-621.

The intrinsic electrostatic potential and the intermediate ring of charge in the acetylcholine receptor channel. (2000) G. Wilson, J. M. Pascual, N. Brooijmans, D. Murray,  A. Karlin. J. Gen. Physiol. 115: 93-106.

Poor school and cognitive functioning with silent cerebral infarcts and sickle cell disease. (2001) J. Schatz, R. T. Brown, J. M. Pascual, L. Hsu, M. R. DeBaun. Neurology. 56: 1109-1111.

Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy. (2001) K. Brockmann, D. Wang, C. G. Korenke, A. v. Moers, Y. Y. Ho, J. M. Pascual, K. Kuang, H. Yang, L. Ma, P. Kranz-Eble, J. Fischbarg, F. Hanefeld, D. C. De Vivo. Ann. Neurol. 50: 476-486.

Congenital myasthenic syndromes (in Spanish). (2002) M. R. Koenigsberger, J. M. Pascual. Rev. Neurol. 34:47-51.

Glucose transporter protein deficiency syndromes. (2002) D. C. De Vivo, D. Wang, J. M. Pascual, Y.-Y. Ho. Int. Rev. Neurobiol.

Imaging the footprint of Glut1 deficiency on the brain. (2002) J. M. Pascual, D. Wang, R. L. van Heertum, K. Engelstad, D. C. De Vivo. Ann. Neurol.

Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer. (In press) P. Iserovich, D. Wang, L. Ma, H. Yang, F. A. Zuniga, G. Shi, J. F. Haller, Q. Wen, J. M. Pascual, K. Kuang, D. C. De Vivo, J. Fischbarg. J Biol Chem.

Regional deficits in cerebral glucose uptake caused by mutations of the Glut-1 transporter. (Submitted)R. van Heertum, K. Engelstad, D. Wang, J. M. Pascual, D. C. De Vivo.

Functional studies of Thr310 mutatons in Glut1: T310I is a pathogenic mutation of Glut1 deficiency.  (Submitted) D. Wang, J. M. Pascual, H. Yang, L. Ma, K. Kuang, P. Kranz-Eble, J. Fischbarg, D. C. De Vivo.

Glut 1 deficiency syndrome. (In preparation; in Spanish) J. M. Pascual, D. Wang, D. C. De Vivo

Book chapters

Pediatric neurological emergencies, in On Call Neurology 2^nd edition (2001), R. S. Marshall and S. A. Mayer, eds.  Philadelphia, W.B. Saunders.

Glucose transporter 1 deficiency syndrome, in Physician's Guide to Rare Diseases, 3^rd edition (In press) J. M. Pascual, K. Engelstad, D. Wang, D. C. De Vivo. Thoene J. G., ed. Montvale, N.J. Dowden Publishing Co.

Peer-reviewed on-line chapter

Glut-1 deficiency syndrome (2002) J. M. Pascual, D. Wang, D. C. De Vivo. GeneReviews (www.geneclinics.org)

Mapping the P-region of DRK1 by targeted chemical modification. (1994) J. M. Pascual, C. C. Shieh, G. E. Kirsch, A. M. Brown.  Soc. Neurosci. Abstr. 20, 720.

Functional role of a conserved aspartate residue in voltage-dependent K⁺ channels. (1995) G. E. Kirsch, J. M. Pascual, C. C. Shieh. Biophys. J. 68, A129.

Multiple charged and aromatic amino acids contribute to tetraethylammonium block of voltage-gated K⁺ channels. (1995) J. M. Pascual, C. C. Shieh, A. M. Brown. Biophys. J. 68, A31.

Cysteine oxidation modulates Kv2.1 gating. (1995) J. M. Pascual, A. M. Brown. Soc. Neurosci. Abstr. 21, 1327.

Residues lining the internal mouth of Kv2.1. (1995) C. C. Shieh, J. M. Pascual, A. M. Brown, G. E. Kirsch. Soc. Neurosci. Abstr. 21, 1327.

Binding site for QX-314, a quaternary lidocaine derivative, in the channel of the acetylcholine receptor. (1997) J.M. Pascual, A. Karlin.  Biophys J. 72, A151.

The channel and the gate in the acetylcholine receptor. (1997) A. Karlin, J. M. Pascual, G. G. Wilson, H. Zhang.  FASEB J.  11, 35.

Electrostatic potential in the open and closed channel of the acetylcholine receptor. (1997) J. M. Pascual, A. Karlin. Soc. Neurosci. Abstr. 23, 6610.

P_f/ P_d reflects functional changes in the pore of a Glut1 glucose transporter mutant. (2000) P. Iserovich, D. Wang, Q. Wen, K. Kuang, L. Ma, J. M. Pascual, D.C. De Vivo, J. Fischbarg. Invest. Ophthalmol. Vis. Sci. 41, S107.

Mutations in the Glut1 gene responsible for reduced cerebral transport of glucose and developmental delay. (2000)  D. Wang, H. Yang, Y. Y. Ho, J. M. Pascual , P. Kranz-Eble, R. Kulikova-Schrupak, K. O’Driscoll, D. C. De Vivo,  Soc. Neurosci. Abstr. 26, 76.

Transport properties of disease-causing GLUT1 mutants. (2000) J. M. Pascual, D. Wang, K. Kuang, H. Yang, Q. Wen, L. Ma, J. Fischbarg, D. C. De Vivo, Soc. Neurosci. Abstr. 26, 814.

Water passage across a water-filled pore in the GLUT1 glucose transporter pathogenic mutant T310I. (2001) L. Ma, D. Wang, K. Kuang, H. Yang, P. Iserovitch, Q. Wen, J. M. Pascual, D. C. De Vivo, J. Fischbarg, Invest. Ophthalmol. Vis. Sci. 42, S500.

GLUT1 deficiency syndrome: a severe phenotype associated with compound heterozygosity in trans. (2001) D. Wang, J. M. Pascual, Y.-Y. Ho, K. Engelstadt, S. Jhung, C. Miller, P. Kranz-Eble, D. C. De Vivo. Ann. Neurol. S125.

GLUT1 deficiency syndrome: R333W genotype and paternal mosaicism. (2001) D. Wang, Y.-Y. Ho, J. M. Pascual, V. Hinton, H. Yang, M. Anolik, P. Kranz-Eble, S. Jhung, K. Engelstadt, D. C. De Vivo. Ann. Neurol. S124.

GLUT1 deficiency syndrome: autosomal dominant transmission of the R126H missense mutation. (2001) D. Wang, K. Brockmann, C. G. Korenke, A. von Moers, Y.-Y. Ho, J. M. Pascual, K. Kuang, H. Yang, L. Ma, P. Kranz-Eble, J. Fischbarg, F. Hanefeld, D. C. De Vivo. Ann. Neurol. S125.

Functional studies of threonine 310 mutations in GLUT-1: T310I is a pathogenic mutation for GLUT-1 deficiency. (2001) D. Wang, J. M. Pascual, H. Yang, L. Ma, K. Kuang, P.- Kranz-Eble, J. Fischbarg, D. C. De Vivo. Soc. Neurosci. Abstr. 27, 775.

Genotype-phenotype correlation of Glut1 deficiency syndrome. (2002) D. Wang, J. M. Pascual, P. Kranz-Eble, H. Yang, M. G. Alvarez, R. P. Sun, D. C. De Vivo. Int Congress Child Neurol.