Examination of the MASH1 gene in patients with Parkinson's disease

Biochemical and Biophysical Research Communications

Volumn 392, Issue 4, 2010, Pages 548-550

  Deng, Hao ^a,b   Yang, Huarong ^a   Le, Weidong ^b   Deng, Xiong ^a   Xu, Hongbo ^a   Xiong, Wei ^c   Zhu, Shaihong ^a   Xie, Wenjie ^b   Song, Zhi ^a   Jankovic, Joseph ^b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c The First People s Hospital of Changde City)   (China)

Author keywords

Parkinson's disease; Polyglutamine length variant; The mammalian achaete scute homolog 1 gene

Indexed keywords

POLYGLUTAMINE;

ADULT; ARTICLE; CASE CONTROL STUDY; CAUCASIAN; CHROMOSOME 12Q; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MAMMALIAN ACHAETE SCUTE HOMOLOG 1 GENE; MASH1 GENE; NERVOUS SYSTEM DEVELOPMENT; NEUROLOGIC DISEASE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TRINUCLEOTIDE REPEAT;

AGED; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIDDLE AGED; PARKINSON DISEASE; PEPTIDES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

MAMMALIA;

EID: 76749117126     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.01.061     Document Type: Article

References (26)

1. Braak H., and Del Tredici K. Invited article: nervous system pathology in sporadic Parkinson disease. Neurology 70 (2008) 1916-1925
2. Bergman O., Håkansson A., Westberg L., Nordenström K., Carmine Belin A., Sydow O., Olson L., Holmberg B., Eriksson E., and Nissbrandt H. PITX3 polymorphism is associated with early onset Parkinson's disease. Neurobiol. Aging 31 (2010) 114-117
3. Chen C.M., Chen I.C., Chang K.H., Chen Y.C., Lyu R.K., Liu Y.T., Hu F.J., Chao C.Y., Lee-Chen G.J., and Wu Y.R. Nuclear receptor NR4A2 IVS6 + 18insG and brain derived neurotrophic factor (BDNF) V66M polymorphisms and risk of Taiwanese Parkinson's disease. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B (2007) 458-462
4. Fuchs J., Mueller J.C., Lichtner P., Schulte C., Munz M., Berg D., Wüllner U., Illig T., Sharma M., and Gasser T. The transcription factor PITX3 is associated with sporadic Parkinson's disease. Neurobiol. Aging 30 (2009) 731-738
5. Le W., Nguyen D., Lin X.W., Rawal P., Huang M., Ding Y., Xie W., Deng H., and Jankovic J. Transcription factor PITX3 gene in Parkinson's disease. Neurobiol. Aging (2009) 10.1016/j.neurobiolaging.2009.03.015
6. Grimes D.A., Han F., Panisset M., Racacho L., Xiao F.X., Zou R.B., Westaff K., and Bulman D.E. Translated mutation in the Nurr1 gene as a cause for Parkinson's disease. Mov. Disord. 21 (2006) 906-909
7. Ide M., Yamada K., Toyota T., Iwayama Y., Ishitsuka Y., Minabe Y., Nakamura K., Hattori N., Asada T., Mizuno Y., Mori N., and Yoshikawa T. Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson's disease. Hum. Genet. 117 (2005) 520-527
8. Le W., Chen S., and Jankovic J. Etiopathogenesis of Parkinson's disease: a new beginning?. Neuroscientist 15 (2009) 28-35
9. Andersson E., Tryggvason U., Deng Q.L., Friling S., Alekseenko Z., Robert B., Perlmann T., and Ericson J. Identification of intrinsic determinants of midbrain dopamine neurons. Cell 124 (2006) 393-405
10. Jankovic J. Parkinson's disease: clinical features and diagnosis. J. Neurol. Neurosurg. Psychiatry 79 (2008) 368-376
11. Deng H., Le W., and Jankovic J. Premutation alleles associated with Parkinson disease and essential tremor. JAMA 292 (2004) 1685-1686
12. Deng H., Le W.D., Zhang X., Pan T.H., and Jankovic J. G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients. Acta Neurol. Scand. 111 (2005) 351-352
13. Deng H., Xie W., Guo Y., Le W., and Jankovic J. Gene dosage analysis of alphasynuclein (SNCA) in patients with Parkinson's disease. Mov. Disord. 21 (2006) 728-729
14. Deng H., Le W.D., Guo Y., Hunter C.B., Xie W.J., Huang M.S., and Jankovic J. Genetic analysis of LRRK2 mutations in patients with Parkinson disease. J. Neurol. Sci. 251 (2006) 102-106
15. Deng H., Xie W.J., Le W.D., Huang M.S., and Jankovic J. Genetic analysis of the GABRA1 gene in patients with essential tremor. Neurosci. Lett. 401 (2006) 16-19
16. Klein C., and Schlossmacher M.G. Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder. Neurology 69 (2007) 93-104
17. Ardayfio P., Moon J., Leung K.K.A., Youn-Hwang D., and Kim K.S. Impaired learning and memory in Pitx3 deficient aphakia mice: a genetic model for striatum-dependent cognitive symptoms in Parkinson's disease. Neurobiol. Dis. 31 (2008) 406-412
18. Prakash N., and Wurst W. Genetic networks controlling the development of midbrain dopaminergic neurons. J. Physiol. 575 (2006) 403-410
19. Katsuno M., Banno H., Suzuki K., Takeuchi Y., Kawashima M., Tanaka F., Adachi H., and Sobue G. Molecular genetics and biomarkers of polyglutamine diseases. Curr. Mol. Med. 8 (2008) 221-234
20. Pennuto M., Palazzolo I., and Poletti A. Post-translational modifications of expanded polyglutamine proteins: impact on neurotoxicity. Hum. Mol. Genet. 18 (2009) R40-R47
21. Hands S., Sinadinos C., and Wyttenbach A. Polyglutamine gene function and dysfunction in the ageing brain. Biochim. Biophys. Acta 1779 (2008) 507-521
22. Shim J.W., Park C.H., Bae Y.C., Bae J.Y., Chung S., Chang M.Y., Koh H.C., Lee H.S., Hwang S.J., Lee K.H., Lee Y.S., Choi C.Y., and Lee S.H. Generation of functional dopamine neurons from neural precursor cells isolated from the subventricular zone and white matter of the adult rat brain using Nurr1 overexpression. Stem Cells 25 (2007) 1252-1262
23. Tuttle R., Nakagawa Y., Johnson J.E., and O'Leary D.D. Defects in thalamocortical axon pathfinding correlate with altered cell domains in Mash-1-deficient mice. Development 126 (1999) 1903-1916
24. Dauger S., Renolleau S., Vardon G., Népote V., Mas C., Simonneau M., Gaultier C., and Gallego J. Ventilatory responses to hypercapnia and hypoxia in Mash-1 heterozygous newborn and adult mice. Pediatr. Res. 46 (1999) 535-542
25. de Pontual L., Népote V., Attié-Bitach T., Al Halabiah H., Trang H., Elghouzzi V., Levacher B., Benihoud K., Augé J., Faure C., Laudier B., Vekemans M., Munnich A., Perricaudet M., Guillemot F., Gaultier C., Lyonnet S., Simonneau M., and Amiel J. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum. Mol. Genet. 12 (2003) 3173-3180
26. Faux N.G., Bottomley S.P., Lesk A.M., Irving J.A., Morrison J.R., de la Banda M.G., and Whisstock J.C. Functional insights from the distribution and role of homopeptide repeat-containing proteins. Genome Res. 15 (2005) 537-551