Molecular targeting therapy and pathomechanism for Fukuyama muscular dystrophy and related disorders

• Project/Area Number: 23249049
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurology
• Research Institution: Kobe University
• Principal Investigator: TATSUSHI Toda 神戸大学, 医学(系)研究科(研究院), 教授 (30262025)
• Co-Investigator(Renkei-kenkyūsha): KOBAYASHI Kazuhiro 神戸大学, 大学院・医学研究科, 教授 (90324780) ; KANAGAWA Motoi 神戸大学, 大学院・医学研究科, 助教 (00448044) ; IKEDA Mariko (TANIGUCHI Mariko) 神戸大学, 大学院・医学研究科, 特命講師 (00410738)
• Project Period (FY): 2011-04-01 – 2014-03-31
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥47,970,000 (Direct Cost: ¥36,900,000、Indirect Cost: ¥11,070,000); Fiscal Year 2013: ¥13,910,000 (Direct Cost: ¥10,700,000、Indirect Cost: ¥3,210,000); Fiscal Year 2012: ¥15,730,000 (Direct Cost: ¥12,100,000、Indirect Cost: ¥3,630,000); Fiscal Year 2011: ¥18,330,000 (Direct Cost: ¥14,100,000、Indirect Cost: ¥4,230,000)
• Keywords: 福山型筋ジストロフィー / レトロトランスポゾン / ジストログリカノパチー / アンチセンス治療 / フクチン / ポストリン酸構造

Research Abstract

Fukuyama muscular dystrophy (FCMD) is the first human disease found to result from ancestral insertion of a SINE-VNTR-Alu (SVA) retrotransposon into a causative gene. Here we show that aberrant mRNA splicing, induced by SVA exon-trapping, underlies the molecular pathogenesis of FCMD. Introduction of antisense oligonucleotides (AONs) targeting the splice acceptor, the predicted exonic splicing enhancer and the intronic splicing enhancer prevented pathogenic exon-trapping by SVA in cells of patients with FCMD and model mice, rescuing normal fukutin mRNA expression and protein production. AON treatment also restored fukutin functions, including O-glycosylation of a-DG and laminin binding by a-DG. Thus, we have discovered in human disease a role for SVA-mediated exon-trapping and demonstrated the promise of splicing modulation therapy as the first radical clinical treatment for FCMD and other SVA-mediated diseases.

Research Products

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• [Journal Article] Inhibition of Protein Misfolding/Aggregation Using Polyglutamine Binding Peptide QBP1 as a Therapy for the Polyglutamine Diseases. (2013)
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• [Journal Article] Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients (2013)
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• [Journal Article] YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression. (2013)
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• [Journal Article] AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan. (2013)
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• [Journal Article] Plasmablasts as migratory IgG-producing cells in the pathogenesis of neuromyelitis optica. (2013)
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  • Journal Title: PLoS One Volume: 8 Issue: 12 Pages: e83036-e83036
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• [Journal Article] 福山型筋ジストロフィー 遺伝子・病態の解明、分子標的治療を目指して (2013)
  • Author(s): 戸田 達史, 谷口 真理子(池田), 金川 基, 小林 千浩
  • Journal Title: 生化学 Volume: 85 Pages: 253-260
  • NAID: 10031169565
• [Journal Article] 福山型筋ジストロフィーの新たな病態と分子標的治療 (2013)
  • Author(s): 戸田 達史, 池田 真理子, 小林 千浩
  • Journal Title: 小児科診療 Volume: 76 Pages: 671-671
• [Journal Article] 【検査値を読む2013】 遺伝子・染色体検査 先天性遺伝子検査 福山型筋ジストロフィー遺伝子 (2013)
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  • Journal Title: 内科 Volume: 111 Pages: 1087-1087
• [Journal Article] 【サルコペニアとアンチエイジング】 筋肉研究の最前線 筋ジストロフィー (2013)
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• [Journal Article] Two cohort and three independent anonymous twin projects at the Keio Twin Research Center (KoTReC) (2013)
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  • Journal Title: Twin Research and Human Genetics Volume: 16 Issue: 1 Pages: 202
  • DOI: 10.1017/thg.2012.131
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• [Journal Article] 各種疾患 神経筋疾患 福山型筋ジストロフィーの分子病態と治療 (2013)
  • Author(s): 戸田 達史
  • Journal Title: Annual Review神経 Volume: 2013 Pages: 238-245
• [Journal Article] Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing a non-laminin binding form of alpha-dystroglycan (2012)
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• [Journal Article] Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies. (2012)
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• [Journal Article] Large-scale replication and heterogeneity in Parkinson disease genetic loci. (2012)
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• [Journal Article] Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes. (2012)
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• [Journal Article] Human natural killer-1 sulfotransferase (HNK-1ST)-induced sulfate-transfer regulates laminin-binding glycans on α-dystroglycan. (2012)
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• [Journal Article] Anti-Hu-associated Paraneoplastic Encephalomyelitis with Esophageal Small Cell Carcinoma (2012)
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• [Journal Article] Association analysis of LRP8 SNP rs3820198 and rs5174 with Parkinson's disease in Han Chinese population. (2012)
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• [Journal Article] Genome-Wide DNA methylation and gene expression analyses of monozygotic twins discordant for intelligence levels. (2012)
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• [Journal Article] A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. (2012)
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• [Journal Article] Hsp40 Gene Therapy Exerts Therapeutic Effects on Polyglutamine Disease Micevia a Non-Cell Autonomous Mechanism. (2012)
  • Author(s): H. Akiko Popiel
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• [Journal Article] 【遺伝性筋疾患の新たな治療戦略】 福山型筋ジストロフィーの新たな病態とアンチセンス療法 (2012)
  • Author(s): 戸田 達史, 谷口 真理子(池田), 小林 千浩
  • Journal Title: 神経内科 Volume: 76 Pages: 361-366
• [Journal Article] 福山型筋ジストロフィーの病的スプライシング異常とアンチセンス療法 (2012)
  • Author(s): 谷口(池田)真理子, 小林千浩, 戸田達史
  • Journal Title: 実験医学 Volume: 30 Pages: 950-953
• [Journal Article] MEDICAL TOPICS(第42回) 福山型筋ジストロフィーのスプライシング異常に対するアンチセンス治療 (2012)
  • Author(s): 谷口 真理子(池田), 小林 千浩, 戸田 達史
  • Journal Title: THE LUNG-perspectives Volume: 20 Pages: 186-191
• [Journal Article] 【神経筋疾患の分子標的治療開発】 福山型筋ジストロフィーの分子標的治療 (2012)
  • Author(s): 戸田 達史, 谷口 真理子(池田), 小林 千浩
  • Journal Title: BIO Clinica Volume: 27 Pages: 925-929
• [Journal Article] 【RNAバイオロジーの最先端】 福山型先天性筋ジストロフィーの発症機序と治療戦略 (2012)
  • Author(s): 谷口 真理子(池田), 戸田 達史
  • Journal Title: 細胞 Volume: 44 Pages: 598-602
• [Journal Article] Neuroimaging features of xeroderma pigmentosum group A (2012)
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• [Journal Article] Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing a non-laminin binding form of α-dystroglycan (2012)
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• [Journal Article] Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration (2012)
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• [Journal Article] Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy (2011)
  • Author(s): Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T
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• [Journal Article] Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family (2011)
  • Author(s): Sun, H.
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• [Journal Article] Endoplasmic reticulum stress response in P104L mutant caveolin-3 transgenic mice (2011)
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• [Journal Article] The aggregation inhibitor peptide QBP1 as a therapeutic molecule for the polyglutamine neurodegenerative diseases (2011)
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  • Journal Title: Journal of Atnino Acids Volume: 2011 Pages: 265084-265084
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• [Journal Article] Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease (2011)
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• [Journal Article] 【筋疾患update】αジストログリカン異常症 (2011)
  • Author(s): 久我敦
  • Journal Title: BRAIN and NERVE Volume: 63巻11号 Pages: 1189-1195
• [Journal Article] 【筋ジストロフィーの分子病態から治療へ】福山型筋ジストロフィー症の成因 (2011)
  • Author(s): 金川基
  • Journal Title: 生体の科学 Volume: 62巻2号 Pages: 91-94
• [Journal Article] 国際共同研究におけるGenome-Wide Association Study (GWAS) (2011)
  • Author(s): 戸田達史
  • Journal Title: Medical Science Digest Volume: 37巻9号 Pages: 346-347
• [Journal Article] 【パーキンソン病発症のメカニズム】パーキンソン病の分子遺伝学ゲノム関連解析研究 (2011)
  • Author(s): 戸田達史
  • Journal Title: BIO Clinica Volume: 26巻8号 Pages: 701-705
• [Journal Article] 【変わりゆくパーキンソン病診療早期診断から進行期患者の治療まで】孤発性パーキンソン病の分子病態機序はどこまで解明されたか (2011)
  • Author(s): 戸田達史
  • Journal Title: 内科 Volume: 107巻5号 Pages: 759-766
• [Presentation] Genomewide Analysis and Molecular Targeting Therapy for Parkinson’s Disease and Muscular Dystrophy. (2014)
  • Author(s): Tatsushi Toda
  • Organizer: SYMPOSIUM ON MEMBRANE BIOLOGY.
  • Place of Presentation: University of Washington, Seattle U.S.A.
  • Invited
• [Presentation] Alpha-dystroglycanopathy and molecular targeting therapy (2013)
  • Author(s): Tatsushi Toda
  • Organizer: Third International Workshop for Glycosylation Defects in Muscular Dystrophies
  • Place of Presentation: Omni Charlotte Hotel, Charlotte NC. U.S.A.
  • Year and Date: 2013-04-18
• [Presentation] αジストログリカノパチー 筋疾患研究最前線 (2013)
  • Author(s): 戸田 達史
  • Organizer: 第54回日本神経学会学術大会
  • Place of Presentation: 東京国際フォーラム
  • Invited
• [Presentation] 福山型筋ジストロフィー―Fukutinの発見・病態から，治療をめざして (2013)
  • Author(s): 戸田 達史
  • Organizer: 第55回日本小児神経学会学術集会
  • Place of Presentation: iichiko総合文化センター 大分
  • Invited
• [Presentation] 福山型筋ジストロフィーの分子標的治療 (2013)
  • Author(s): 戸田 達史
  • Organizer: 第20回日本遺伝子診療学会大会
  • Place of Presentation: アクトシティ浜松コングレスセンター 静岡
  • Invited
• [Presentation] 福山型など糖鎖異常による筋ジストロフィーの病態と分子標的治療. 脳・神経・筋疾患と糖. (2013)
  • Author(s): 戸田 達史
  • Organizer: 第32回日本糖質学会年会
  • Place of Presentation: 大阪国際交流センター
  • Invited
• [Presentation] 糖鎖異常筋ジストロフィーの分子病態とAAV治療 (2013)
  • Author(s): 戸田 達史
  • Organizer: 日本人類遺伝学会第58回大会
  • Place of Presentation: 江陽グランドホテル
  • Invited
• [Presentation] Alpha-dystroglycanopathy and molecular targeting therapy. (2013)
  • Author(s): Tatsushi Toda
  • Organizer: Third International Workshop for Glycosylation Defects in Muscular Dystrophies.
  • Place of Presentation: Omni Charlotte Hotel,Charlotte NC, U.S.A.
  • Invited
• [Presentation] Genomics and molecular targeting therapy of neurological diseases. (2013)
  • Author(s): Tatsushi Toda
  • Organizer: The 13th Annual Meeting of East Asian Union of Human Genetics Societies in conjunction with the 9th National Congress of Genetics Society of China.
  • Place of Presentation: Harbin, China
  • Invited
• [Presentation] 福山型筋ジストロフィーの分子標的治療 (2012)
  • Author(s): 戸田達史
  • Organizer: 第53回日本神経学会学術大会
  • Place of Presentation: 東京国際フォーラム
  • Invited
• [Presentation] Molecular targeting therapy for muscular dystrophies. (2012)
  • Author(s): 戸田達史
  • Organizer: 第18回日本遺伝子治療学会学術集会
  • Place of Presentation: ホテル熊本テルサ
  • Invited
• [Presentation] 神経筋疾患のゲノミクスと分子標的治療 (2012)
  • Author(s): 戸田達史
  • Organizer: 第14回日本RNA学会年会
  • Place of Presentation: 東北大学百周年記念会館
  • Invited
• [Presentation] 福山型筋ジストロフィー、パーキンソン病をはじめとする神経疾患の遺伝学的解析・ 病態治療解析 (2012)
  • Author(s): 戸田達史
  • Organizer: 第35回日本神経科学大会
  • Place of Presentation: 名古屋国際会議場
  • Invited
• [Presentation] 筋ジストロフィーのモデル動物と分子標的治療 (2012)
  • Author(s): 戸田達史
  • Organizer: 日本人類遺伝学会第57回大会
  • Place of Presentation: 京王プラザホテル
  • Invited
• [Presentation] RNA-based mechanism and therapy for muscular dystrophy. (2012)
  • Author(s): 戸田達史, 池田真理子, 小林千浩
  • Organizer: 第35回日本分子生物学会年会
  • Place of Presentation: 福岡国際会議場・マリンメッセ福岡
  • Invited
• [Presentation] Fukuyama congenital muscular dystrophy - update. (2012)
  • Author(s): Tatsushi Toda
  • Organizer: The 11th Annual Scientiafic Meeting of the Asian Oceanian Myology Center
  • Place of Presentation: 京都大学
  • Invited
• [Presentation] Pathogenic Exon-trapping by SVA Retrotransposon and Therapeutic Rescue with Antisense Oligonucleotide in Fukuyama Muscular Dystrophy. (2012)
  • Author(s): Tatsushi Toda
  • Organizer: The 22nd CDB Meeting
  • Place of Presentation: 理化学研究所 発生・再生科学総合研究センター
  • Invited
• [Presentation] Novel pathomechanism and molecular targeting therapy for Fukuyama CMD. (2012)
  • Author(s): Tatsushi Toda
  • Organizer: 9th Japanese-French Symposium for Muscular Dystrophy
  • Place of Presentation: JA共済ビルカンファレンス・ホール. 東京
  • Invited
• [Presentation] Molecular Targeting Therapy for Muscular Dystrophy. (2012)
  • Author(s): Tatsushi Toda
  • Organizer: The 12th Annual Meeting of East Asian Union of Human Genetics Societies in conjunction with the 45th Scientific Meeting of Korean Society of Medical Genetics
  • Place of Presentation: ソウル大学病院 こども病院 韓国
  • Invited
• [Presentation] Genome-wide studies and molecular targeting therapy for-neurological diseases (2011)
  • Author(s): Toda T
  • Organizer: JAPANESE-FINNISH JOINT SYMPOSIUM
  • Place of Presentation: Hilton Helsinki Strand(フィンランド)(招待講演)
  • Year and Date: 2011-12-14
• [Presentation] SVAレトロトランスポゾン挿入による病的exon-trappingと福山型筋ジストロフィーにおけるレスキュー (2011)
  • Author(s): 小林千浩
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜(横浜)
  • Year and Date: 2011-12-14
• [Presentation] AN A-SYNUCLEIN 3'-FLANKING REGION SNP INTERACTS WITH PARKINSON'S DISEASE SUSCEPTIBILITY VIA ALLELE-SPECIFIC BINDING OF A TRANSCRIPTION FACTOR (2011)
  • Author(s): Toda T
  • Organizer: XXth World Congress of Neurology
  • Place of Presentation: Mansour Eddhabi Congress Center(モロッコ)
  • Year and Date: 2011-11-13
• [Presentation] SVAレトロトランスポゾンによる病的エクソントラッピングと福山型筋ジストロフィーにおけるレスキュー (2011)
  • Author(s): 谷口(池田)真理子
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ(千葉)
  • Year and Date: 2011-11-12
• [Presentation] 神経筋疾患のゲノムクスと分子標的治療 (2011)
  • Author(s): 戸田達史
  • Organizer: 日本人類遺伝学会第66回大会
  • Place of Presentation: 幕張メッセ(千葉)(招待講演)
  • Year and Date: 2011-11-12
• [Presentation] フクチン変異筋ジストロフィーにおけるミスセンス変異体局在異常とジストログリカン糖修飾活性、およびクルクミンによる局在補正 (2011)
  • Author(s): 立川雅司
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ(千葉)
  • Year and Date: 2011-11-11
• [Presentation] Dysferlin-mediated membrane repair system contributes to maintenance of skeletal muscle cell viability in mouse models for muscular dystrophy (2011)
  • Author(s): Toda T
  • Organizer: 16^<th> International Congress of the World Muscle Society
  • Place of Presentation: Ria Park Hotels Almancil Algarve(ポルトガル)
  • Year and Date: 2011-10-19
• [Presentation] 機能性糖鎖:基礎から疾患まで (2011)
  • Author(s): 戸田達史
  • Organizer: 第84回日本生化学会大会
  • Place of Presentation: 京都国際会館(京都)(招待講演)
  • Year and Date: 2011-09-22
• [Presentation] ジストログリカンの新規リガンド分子ピカチュリンの結合解析と糖鎖異常型筋ジストロフィー病態への関与 (2011)
  • Author(s): 金川基
  • Organizer: 第84回日本生化学会大会
  • Place of Presentation: 京都国際会館(京都)
  • Year and Date: 2011-09-22
• [Presentation] Japanese 2nd GWAS identifies a novel risk locus and detects a strong association at MCCC1 for Parkinson's disease (2011)
  • Author(s): Satake W
  • Organizer: Genetic Epidemiology of Parkinson's Disease Consortium 6th annual meeting
  • Place of Presentation: NorthShore University HealthSystem,(アメリカ)(招待講演)
  • Year and Date: 2011-09-19
• [Presentation] パーソナルゲノム研究のオーバービュー (2011)
  • Author(s): 戸田達史
  • Organizer: 第52回日本神経学会学術大会
  • Place of Presentation: 名古屋国際会議場(名古屋)(招待講演)
  • Year and Date: 2011-05-19
• [Presentation] 福山型筋ジストロフィーの新たな病態・治療戦略 (2011)
  • Author(s): 戸田達史
  • Organizer: 第52回日本神経学会学術大会
  • Place of Presentation: 名古屋国際会議場(名古屋)(招待講演)
  • Year and Date: 2011-05-19
• [Presentation] PD GWAS in Asian Cohort (2011)
  • Author(s): Satake W
  • Organizer: Genetics of Neurodegenerative Disease Neurochip and Beyond
  • Place of Presentation: Omni Shoreham Hotel(ワシントンD.C.)(招待講演)
  • Year and Date: 2011-04-20
• [Remarks]
  • URL: http://www.med.kobe-u.ac.jp/sinkei/
• [Remarks]
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Remarks] 神経内科 神戸大学大学院医学系研究科・内科学講座
  • URL: http://www.med.kobe-u.ac.jp/sinkei/
• [Remarks] 神戸大学大学院 医学研究科 生理学・細胞生物学講座 分子脳科学分野
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Remarks] 神経内科 神戸大学大学院医学系研究科・内科学講座
  • URL: http://www.med.kobe-u.ac.jp/sinkei/
• [Remarks] 神戸大学大学院 医学研究科 生理学・細胞生物学講座 分子脳科学分野
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Remarks]
  • URL: http://www.med.kobe-u.ac.jp/im3/rinsyo/shinkei/index.html
• [Remarks]
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Patent(Industrial Property Rights)] 福山型筋ジストロフィー治療用医薬組成物 (2012)
  • Inventor(s): 戸田達史, 小林千浩, 池田真理子
  • Industrial Property Rights Holder: 国立大学法人神戸大学
  • Industrial Property Rights Type: 特許
  • Filing Date: 2012-04-05
• [Patent(Industrial Property Rights)] 福山型筋ジストロフィー治療用医薬組成物 (2012)
  • Inventor(s): 戸田 達史、 小林 千浩、 池田 真理子
  • Industrial Property Rights Holder: 戸田 達史、 小林 千浩、 池田 真理子
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 2012-086891
  • Filing Date: 2012-04-05