Research Topics
| HS1BP3SummaryGene Symbol: HS1BP3 Description: HCLS1 binding protein 3 Alias: ETM2, HS1-BP3, HCLS1-binding protein 3, HS1-binding protein 3, HSP1BP-3 Species: human Top Publications
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Publications
Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3Y Takemoto
Institute of Immunology, Syntex Roche, 2669 Yamazaki, Noda, Chiba 278, Japan
Int Immunol 11:1957-64. 1999We have isolated a novel gene, HS1BP3, which encodes an HS1 binding protein...
Human HS1BP3 induces cell apoptosis and activates AP-1Taiping Shi
Laboratory of Medical Immunology, School of Basic Medical Science, Peking University Health Science Center, Beijing, China
BMB Rep 44:381-6. 2011In the present study, we characterized the function of HS1-binding protein 3 (HS1BP3), which is mutated in essential tremor and may be involved in lymphocyte activation...- No association with the ETM2 locus in Czech patients with familial essential tremorDaniela Zahorakova
Department of Pediatrics, Charles University in Prague, 1st Faculty of Medicine and General Teaching Hospital, Czech Republic
Neuro Endocrinol Lett 31:549-52. 2010..However, several candidate loci have been reported, including the ETM2 locus that was originally found in a large American family of Czech descent. 
DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson diseaseBrett H Keeling
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Neurosci Lett 461:74-5. 2009Variants in the dopamine receptor D3 (DRD3) and HCLS1 binding protein 3 (HS1BP3) have been nominated as risk factors for essential tremor (ET)...- Further evidence of genetic heterogeneity in familial essential tremorPaolo Aridon
Dipartimento Universitario di Neuroscienze Cliniche, University of Palermo, Italy
Parkinsonism Relat Disord 14:15-8. 2008..To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23)... - A family with Parkinson disease, essential tremor, bell palsy, and parkin mutationsHao Deng
Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
Arch Neurol 64:421-4. 2007Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET). - Genetics of essential tremorHao Deng
Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
Brain 130:1456-64. 2007..Thus far, three gene loci (ETM1 on 3q13, ETM2 on 2p24.1 and a locus on 6p23) have been identified in patients and families with the disorder... - HS1-BP3 gene variant is common in familial essential tremorJoseph J Higgins
Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, New York, USA
Mov Disord 21:306-9. 2006..The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown... - Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson diseaseH Deng
Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
Neurology 65:651-2. 2005 - Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in KoreaJeong Hyun Kim
School of Life Sciences and Biotechnology, Korea University, Seoul, Korea
Mov Disord 20:1650-3. 2005..Although two susceptibility loci were identified on chromosome 2p24 (ETM2) and 3q13 (ETM1 or FET1), the exact transcript(s) has not been cloned... - Genetic mouse models of essential tremor: are they essential?Joseph Jankovic
Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA
J Clin Invest 115:584-6. 2005.... - A variant in the HS1-BP3 gene is associated with familial essential tremorJ J Higgins
Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main St, Suite 203A, New Paltz, NY 12561, USA
Neurology 64:417-21. 2005..1 (etm2)... - Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremorJ J Higgins
Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, NY 12561, USA
Clin Genet 66:353-7. 2004..etm1240, etm1231, etm1234, APOB, etm1241, and etm1242) in a 274-kb interval within an ET gene candidate region (ETM2) were analyzed in Singaporean individuals with a family history of ET (n = 52) and compared to Singaporean controls .. - Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2Joseph J Higgins
Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, New York 12561, USA
Am J Med Genet B Neuropsychiatr Genet 127:128-30. 2004A gene for autosomal dominant familial essential tremor maps to a 9.1 cM interval flanked by loci D2S224 and D2S405 (ETM2) on human chromosome 2p24.3-p24.2... - Haplotype analysis of the ETM2 locus in familial essential tremorJoseph J Higgins
Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main Street, Suite 203A, New Paltz, NY 12561, USA
Neurogenetics 4:185-9. 2003..with autosomal dominant essential tremor (ET) for a genetic association with loci in a candidate region (ETM2) on chromosome 2p24.1 that harbors a disease gene for ET... - [Molecular genetic analysis of essential tremor]S N Illarioshkin
Research Institute of Neurology, Russian Academy of Medical Sciences, Moscow, 125367 Russia
Genetika 38:1704-9. 2002..and is genetically heterogeneous: distinct variants of ET were mapped to chromosomes 3q13 (ETM1) and 2p22-25 (ETM2)... - Genetics of essential tremorBarbara Jasinska-Myga
Department of Neurology, Medical University of Silesia, Katowice, Poland
Parkinsonism Relat Disord 18:S138-9. 2012..replicated in candidate genes within these loci, including dopamine D3 receptor (DRD3) and HS1-binding protein 3 (HS1BP3)...