Genomes and Genes
Eng King Tan
Affiliation: Singapore General Hospital
- Tio M, Wen R, Lim Y, Wang H, Ling S, Zhao Y, et al. FUS-linked essential tremor associated with motor dysfunction in Drosophila. Hum Genet. 2016;135:1223-1232 pubmed..Our in vivo studies of the hFUS-Q290X mutation in Drosophila link motor dysfunction to impairment in the GABAergic pathway. Our findings would facilitate further efforts in unravelling the pathophysiology of ET. ..
- Wang H, Toh J, Ho P, Tio M, Zhao Y, Tan E. In vivo evidence of pathogenicity of VPS35 mutations in the Drosophila. Mol Brain. 2014;7:73 pubmed publisher..We conclude that D620N and to a smaller extent P316S are associated with pathogenicity in PD. ..
- Tan E, Ho P, Cheng S, Yih Y, Li H, Fook Chong S, et al. CALHM1 variant is not associated with Alzheimer's disease among Asians. Neurobiol Aging. 2011;32:546.e11-2 pubmed publisher..5% vs 16.7%) and genotype frequency was not significantly different between Alzheimer's disease (AD) and controls. Logistic regression analysis did not reveal any interaction between ApoE4 allele and CALHM1 allele. ..
- Tan E, Tong J, Pavanni R, Wong M, Zhao Y. Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism. Mov Disord. 2007;22:1971-4 pubmed..However, in the long-term follow-up of patients who present with an ET phenotype, clinicians should be vigilant for other neurological signs, which may be point to an alternate diagnosis. ..
- Zhou Z, Xie S, Sathiyamoorthy S, Saw W, Sing T, Ng S, et al. F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy. Hum Mol Genet. 2015;24:6314-30 pubmed publisher..FBXO7 can also form aggregates in brains of PD and Alzheimer's disease. Our study provides novel pathophysiologic insights and suggests that FBXO7 may be a potential therapeutic target in FBXO7-linked neuron degeneration in PD. ..
- Tan E, Chung H, Chandran V, Tan C, Shen H, Yew K, et al. Nurr1 mutational screen in Parkinson's disease. Mov Disord. 2004;19:1503-5 pubmed....
- Tan E, Lin C, Tai C, Tan L, Chen M, Li R, et al. Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations. Hum Genet. 2009;126:425-30 pubmed publisher..However, in vivo functional studies and segregation analysis in large pedigrees will be needed to determine if these single heterozygous variants represent rare mutations, risk alleles or benign polymorphisms. ..
- Tan E, Puong K, Fook Chong S, Chua E, Shen H, Yuen Y, et al. Case-control study of UCHL1 S18Y variant in Parkinson's disease. Mov Disord. 2006;21:1765-8 pubmed..Further functional studies of the S18Y variant in both cell and animal models will be of interest. ..
- Tan E, Chai A, Zhao Y, Lum S, Fook Chong S, Teoh M, et al. Mitochondrial complex I polymorphism and cigarette smoking in Parkinson's disease. Neurology. 2002;59:1288-9 pubmed
- Tan E, Lu C, Peng R, Teo Y, Wu Chou Y, Chen R, et al. Analysis of the UCHL1 genetic variant in Parkinson's disease among Chinese. Neurobiol Aging. 2010;31:2194-6 pubmed publisher..99 (95% CI 0.84-1.16, p=0.88). A multivariate logistic regression analysis showed that family history, UCHL1 variant and the interaction of UCHL1 variant and age at onset (p=0.816) were not significantly associated with PD. ..
- Tan E, Lee J, Chen C, Teo Y, Zhao Y, Lee W. SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese. Neurobiol Aging. 2009;30:1048-51 pubmed..However, our study suggests that certain SORL1 haplotypes at SNPs 19-24 modulated risk of AD in our Chinese population. ..
- Tan E, Chan D, Ng P, Woo J, Teo Y, Tang K, et al. Effect of MDR1 haplotype on risk of Parkinson disease. Arch Neurol. 2005;62:460-4 pubmed..19-0.59). An MDR1 haplotype containing SNPs e21/2677T and e26/3435T protects against PD in ethnic Chinese, compatible with the observation of a recent positive selection of the T alleles of these 2 SNPs in this ethnic population. ..
- Tan E, Drozdzik M, Bialecka M, Honczarenko K, Klodowska Duda G, Teo Y, et al. Analysis of MDR1 haplotypes in Parkinson's disease in a white population. Neurosci Lett. 2004;372:240-4 pubmed..There was a weak protective effect of the haplotype 2677G-3435C in our white population. However, the MDR1 haplotypes did not generally modulate the risk of PD. ..
- Tan E, Chai A, Lum S, Shen H, Tan C, Teoh M, et al. Monoamine oxidase B polymorphism, cigarette smoking and risk of Parkinson's disease: a study in an Asian population. Am J Med Genet B Neuropsychiatr Genet. 2003;120B:58-62 pubmed..The MAO B G/A genotype frequency in our Asian population was quite different from Caucasians suggesting that ethnicity specific effects need to be considered in evaluating gene-environmental interaction. ..
- Tan E, Chan L, Auchus A. Complex movement disorders following bilateral paramedian thalamic and bilateral cerebellar infarcts. Mov Disord. 2001;16:968-70 pubmed..This case of a 59-year-old man who developed CMD following bilateral paramedian and bilateral cerebellar infarcts illustrates the lack of anatomic specificity and the diverse pathophysiology which may underlie CMD...
- Tan E. The role of common genetic risk variants in Parkinson disease. Clin Genet. 2007;72:387-93 pubmed..78-2.9). A higher frequency of G2385R carriers has been observed in familial PD when compared with sporadic patients. Based on current evidence, certain common genetic variants are likely to modulate the risk of PD. ..
- Tan E, Cheah S, Fook Chong S, Yew K, Chandran V, Lum S, et al. Functional COMT variant predicts response to high dose pyridoxine in Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet. 2005;137B:1-4 pubmed..Our observational study suggests that the status the functional COMT(L) variant may be potentially useful to select PD patients for high dose pyridoxine therapy. ..
- Tan E, Kwok H, Kwok H, Tan L, Zhao W, Prakash K, et al. Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus. Neurology. 2010;75:508-12 pubmed publisher..Our study reaffirms the role of GWAS-linked loci in PD in Asian subjects and the strength of association is similar between Chinese and Japanese subjects. Efforts to elucidate the associated gene within PARK16 locus are warranted. ..
- Angeles D, Ho P, Chua L, Wang C, Yap Y, Ng C, et al. Thiol peroxidases ameliorate LRRK2 mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila. Hum Mol Genet. 2014;23:3157-65 pubmed publisher..Our therapeutic experiments also highlight the potential of thiol peroxidases as neuroprotective agents in PD patients carrying LRRK2 mutations...
- Tan E, Chan L, Chang H. Severe bruxism following basal ganglia infarcts: insights into pathophysiology. J Neurol Sci. 2004;217:229-32 pubmed..Dysfunction of the efferent and/or afferent thalamic or striatopallidal tracts may play a role in bruxism. Early recognition of bruxism following stroke could reduce unnecessary suffering since the condition can be effectively treated...
- Tan E, Tan C, Shen H, Chai A, Lum S, Teoh M, et al. Alpha synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability. Neurosci Lett. 2003;336:70-2 pubmed..Variability of the microsatellite region and potential interacting factors that could affect alpha synuclein gene transcription should be further examined. ..