2011 Fiscal Year Final Research Report
A research for dissecting molecular pathogenesis of SCA31.
| Project/Area Number |
21591072
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Neurology
|
|---|
| Research Institution | Tokyo Medical and Dental University |
|---|
Principal Investigator |
ISHIKAWA Kinya 東京医科歯科大学, 医学部附属病院, 講師 (30313240)
|
|---|
| Project Period (FY) |
2009 – 2011
|
| Keywords | ゲノム / 拡散 / 脳神経疾患 / マイクロアレー / プロテオーム |
|---|
| Research Abstract |
We performed basic research for three years(FY2009-2011) and achieved a success to generate SCA31 model mice. We introduced a BAC(bacterial artificial chromosome) clone, derived from a SCA31 affected individual, into mice fertilized eggs. We obtained 9 lines positive for the gene of interest. Four different lines were finally established. The SCA31 mutation was confirmed transcribed in the transgenic mice. These achievements are crucial for the future understanding of pathogenesis as well as establishment of treatments in SCA31.
|
-
[Journal Article] Reduced brain-derived neurotrophic factor(BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6(SCA6) cerebellum2012
Author(s)
Takahashi M, Ishikawa K, Sato N, Obayashi M, Niimi Y, Ishiguro T, Yamada M, Toyoshima Y, Takahashi H, Kato T, Takao M, Murayama M, Mori O, Eishi Y, Mizusawa H.
-
Journal Title
Neuropathology
Volume: (in press)
-
[Journal Article] Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene(ITPR1) deletion, the mutation forspinocerebellar ataxia type 15(SCA15), in Japan screened by gene dosage2012
Author(s)
Obayashi M, Ishikawa K, Izumi Y, Takahashi M, Niimi Y, Sato N, Onodera O, Kaji R, Nishizawa M, Mizusawa H.
-
Journal Title
J Hum Genet
Volume: 57(3)
Pages: 202-206
-
[Journal Article] Pentanucleotide repeats at the spinocerebellar ataxia type 32(SCA31) locus in Caucasians2011
Author(s)
Ishikawa K, D rr A, Klopstock T, M ller S, De Toffol B, Vighetto A, Marelli C, Wichmann HE, Illig T, Niimi Y, Sato N, Amino T, Stevanin G, Brice A, Mizusawa H.
-
Journal Title
Neurology
Volume: 77(20)
Pages: 1853-1855
-
-
[Journal Article] The carboxy-terminal fragment of alpha1A calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells2010
Author(s)
Ishiguro T, Ishikawa K, Takahashi M, Obayashi M, Amino T, Sato N, Sakamoto M, Fujigasaki H, Tsuruta F, Dolmetsch R, Arai T, Sasaki H, Nagashima K, Kato T, Yamada M, Takahashi H, Hashizume Y, Mizusawa H.
-
Journal Title
Acta Neuropathol
Volume: 119(4)
Pages: 447-464
-
[Journal Article] Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing(TGGAA) n2009
Author(s)
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H.
-
Journal Title
Am J Hum Genet
Volume: 85(5)
Pages: 554-557
-
-
-
-
-
-
-
-
-
-
-
-
-
