Stefan Matthias Pulst, M.D.

Edit your Faculty Profile
Work Titles
UCLA Professor, Medicine
Education:
Degrees:
M.D.
Certifications:
Certification Type:

Contact Information:

Email Address:

pulst@cshs.org

Email Address:

stefan.pulst@cshs.org


Website:

http://www.neurobio.ucla.edu/~spulst/

Work Phone Number:

310-423-5166

310-423-7611

Laboratory Address:

110 N. George Burns Road
Los Angeles, CA 90048


Mailing Address:

Office
8730 Alden Drive
Los Angeles, CA 90048

8730 Alden Drive
Los Angeles, CA 90048


Detailed Biography:

Molecular Mechanisms of inherited diseases of the nervous system Our group is interested in human inherited diseases of the nervous system with a specific interest in neurodegeneration, brain tumors and genetic factors affecting cognition. For a more detailed description of our research projects, please click on our lab homepage. We are using a variety of techniques ranging from linkage analysis and positional cloning to studies in cultured cells and transgenic mouse lines. We are currently working on molecular pathogenesis of: Spinocerebellar ataxias types 2 and 13 (KCNC3), Neurofibromatosis, Parkinson disease, Alzheimer disease, Attention Deficit Disorder (ADD, ADHD).

Publications:

A selected list of publications:

Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Muller U, Durr A, Brice A, Papazian DM, Pulst SM.   Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. , Nature Genetics, 2006; 38(4): 447-451.
Scoles DR, Yong WH, Qin Y, Wawrowsky K, Pulst SM.   Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor subunit c (eIF3c), Hum Mol Genet, 2006; 15 (7): 1059-70.
Kiehl TR, Nechiporuk A, Figueroa KP, Keating MT, Huynh DP, Pulst SM.   Generation and characterization of SCA2 (ataxin-2) knockout mice, Biochem Biophys Res Commun, 2005; 339(6): 17-24.
Scoles DR, Qin Y, Nguyen V, Gutmann DH, Pulst SM.   HRS inhibits EGF receptor signaling in the RT4 rat schwannoman cell line. , Biochem Biophys Res Commun, 2005; 335(2): 385-92.
Pulst SM, Santos N, Wng D, Yang H, Huynh D, Velazquez L, Figueroa KP.   spinocerebellar ataxia type 2: poly Q repeat variation in the CACNA1A calcium channel modifies age of onset. , Brain, 2005; 128(Pt10): 2297-303.
Huynh, DP Scoles, DR Nguyen, D Pulst, SM   The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI Human molecular genetics. , 2003; 12(20): 2587-97.
Costa, RM Yang, T Huynh, DP Pulst, SM Viskochil, DH Silva, AJ Brannan, CI   Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1 Nature Genetics. , 2001; 27(4): 399-405.
Pulst SM   Neurogenetics, , 2000; .
Duong P. Huynh, Karla Figueroa1, Nam Hoang, Stefan-M Pulst   Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in man or mouse, Nature Genetics, 2000; 26: 44-50.
Zu, L Figueroa, KP Grewal, R Pulst, SM   Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22 American journal of human genetics. , 1999; 64(2): 594-9.
Scoles DR, Huynh D, Coulsell E, Robinson G, Tamanoi F, Pulst SM   The neurofibromatosis 2 tumor suppressor schwannomin interacts with beta-II-spectrin (fodrin), Nature Genetics, 1998; 18: 1-6.
Pulst SM,Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Perlman S, Starkman S, Orozco-Diaz G, Lunkes A, de Jong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S   Identification of the SCA2 gene: Moderate expansion of a normally biallelic trinucleotide repeat, Nature Genetics, 1996; 40: 269-276 .

Does this profile need updating? Contact Us