1 - 25 of 40 results for author:"Pulst S.M." in Literature citations
Results Customize
› Repeat search in UniProtKB (16)
| Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Hansen S.T., Meera P., Otis T.S., Pulst S.M. Hum. Mol. Genet. 22:271-283(2013) · Mapped (11) |
| Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). Figueroa K.P., Waters M.F., Garibyan V., Bird T.D., Gomez C.M., Ranum L.P., Minassian N.A., Papazian D.M., Pulst S.M. PLoS ONE 6:e17811-e17811(2011) · Mapped (3) |
| Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. Figueroa K.P., Farooqi S., Harrup K., Frank J., O'Rahilly S., Pulst S.M. PLoS ONE 4:e8280-e8280(2009) · Mapped (3) |
| KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Figueroa K.P., Minassian N.A., Stevanin G., Waters M., Garibyan V., Forlani S., Strzelczyk A., Burk K., Brice A., Durr A. et al. Hum. Mutat. 31:191-196(2010) · Mapped (3) |
| Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids. Sikorska M., Sandhu J.K., Simon D.K., Pathiraja V., Sodja C., Li Y., Ribecco-Lutkiewicz M., Lanthier P., Borowy-Borowski H., Upton A. et al. Muscle Nerve 40:381-394(2009) · Mapped (2) |
| Dissociated fear and spatial learning in mice with deficiency of ataxin-2. Huynh D.P., Maalouf M., Silva A.J., Schweizer F.E., Pulst S.M. PLoS ONE 4:e6235-e6235(2009) · Mapped (11) |
| Sca13. Waters M.F., Pulst S.M. Cerebellum 7:165-169(2008) · Mapped (3) |
| dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. Al-Ramahi I., Perez A.M., Lim J., Zhang M., Sorensen R., de Haro M., Branco J., Pulst S.M., Zoghbi H.Y., Botas J. PLoS Genet. 3:e234-e234(2007) · Mapped (3) |
| Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Huynh D.P., Nguyen D.T., Pulst-Korenberg J.B., Brice A., Pulst S.M. Exp. Neurol. 203:531-541(2007) |
| Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes. Waters M.F., Minassian N.A., Stevanin G., Figueroa K.P., Bannister J.P.A., Nolte D., Mock A.F., Evidente V.G.H., Fee D.B., Mueller U. et al. |
| Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor subunit c (eIF3c). Scoles D.R., Yong W.H., Qin Y., Wawrowsky K., Pulst S.M. Hum. Mol. Genet. 15:1059-1070(2006) · Mapped (8) |
| Generation and characterization of Sca2 (ataxin-2) knockout mice. Kiehl T.R., Nechiporuk A., Figueroa K.P., Keating M.T., Huynh D.P., Pulst S.M. Biochem. Biophys. Res. Commun. 339:17-24(2006) · Mapped (11) |
| Dystonia-associated forms of torsinA are deficient in ATPase activity. Konakova M., Pulst S.M. J. Mol. Neurosci. 25:105-117(2005) · Mapped (3) |
| Screening for mutations in synaptotagmin XI in Parkinson's disease. Glass A.S., Huynh D.P., Franck T., Woitalla D., Muller T., Pulst S.M., Berg D., Kruger R., Riess O. J. Neural Transm. Suppl. 2004:21-28(2004) · Mapped (2) |
| Identification and expression of the gene for human ataxin-2-related protein on chromosome 16. Figueroa K.P., Pulst S.M. Exp. Neurol. 184:669-678(2003) · UniProtKB (1) |
| The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. Huynh D.P., Scoles D.R., Nguyen D., Pulst S.M. Hum. Mol. Genet. 12:2587-2597(2003) · UniProtKB (2) · Mapped (17) |
| Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death. Huynh D.P., Yang H.T., Vakharia H., Nguyen D., Pulst S.M. Hum. Mol. Genet. 12:1485-1496(2003) |
| Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. Scoles D.R., Nguyen V.D., Qin Y., Sun C.X., Morrison H., Gutmann D.H., Pulst S.M. Hum. Mol. Genet. 11:3179-3189(2002) · Mapped (10) |
| Functional analysis of the relationship between the neurofibromatosis 2 tumor suppressor and its binding partner, hepatocyte growth factor-regulated tyrosine kinase substrate. Sun C.X., Haipek C., Scoles D.R., Pulst S.M., Giovannini M., Komada M., Gutmann D.H. Hum. Mol. Genet. 11:3167-3178(2002) · Mapped (3) |
| Immunocytochemical characterization of torsin proteins in mouse brain. Konakova M., Pulst S.M. Brain Res. 922:1-8(2001) · Mapped (8) |
| Differential expression and tissue distribution of parkin isoforms during mouse development. Huynh D.P., Dy M., Nguyen D., Kiehl T.-R., Pulst S.M. Brain Res. Dev. Brain Res. 130:173-181(2001) · UniProtKB (1) · Mapped (8) |
| Identification and expression of a mouse ortholog of A2BP1. Kiehl T.R., Shibata H., Vo T., Huynh D.P., Pulst S.M. Mamm. Genome 12:595-601(2001) · Mapped (12) |
| The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans. Kiehl T.R., Shibata H., Pulst S.M. J. Mol. Neurosci. 15:231-241(2000) · Mapped (4) |
| Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Costa R.M., Yang T., Huynh D.P., Pulst S.M., Viskochil D.H., Silva A.J., Brannan C.I. Nat. Genet. 27:399-405(2001) · Mapped (7) |
| Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Matsuura T., Yamagata T., Burgess D.L., Rasmussen A., Grewal R.P., Watase K., Khajavi M., McCall A.E., Davis C.F., Zu L. et al. |