Literature DB >> 17915578

LAMP-2 deficiency (Danon disease).

S Di Mauro1, K Tanji, M Hirano.   

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Year:  2007        PMID： 17915578      PMCID： PMC2949328     

Source DB:  PubMed          Journal:  Acta Myol        ISSN： 1128-2460


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  12 in total

1.  Ophthalmic manifestations of Danon disease.

Authors:  F Ryan Prall; Arlene Drack; Matthew Taylor; Lisa Ku; Jeffrey L Olson; Darren Gregory; Luisa Mestroni; Naresh Mandava
Journal:  Ophthalmology       Date:  2006-06       Impact factor: 12.079

2.  Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.

Authors:  Zhao Yang; Colin J McMahon; Liana R Smith; Jeathrina Bersola; Adekunle M Adesina; John P Breinholt; Debra L Kearney; William J Dreyer; Susan W Denfield; Jack F Price; Michelle Grenier; Naomi J Kertesz; Sarah K Clunie; Susan D Fernbach; James F Southern; Stuart Berger; Jeffrey A Towbin; Karla R Bowles; Neil E Bowles
Journal:  Circulation       Date:  2005-09-06       Impact factor: 29.690

3.  Lysosomal glycogen storage disease with normal acid maltase.

Authors:  M J Danon; S J Oh; S DiMauro; J R Manaligod; A Eastwood; S Naidu; L H Schliselfeld
Journal:  Neurology       Date:  1981-01       Impact factor: 9.910

4.  Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

Authors:  Olimpia Musumeci; Carmelo Rodolico; Ichizo Nishino; Giuseppe Di Guardo; Alba Migliorato; Mohammed Aguennouz; Anna Mazzeo; Corrado Messina; Giuseppe Vita; Antonio Toscano
Journal:  Neuromuscul Disord       Date:  2005-04-19       Impact factor: 4.296

5.  Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice.

Authors:  Y Tanaka; G Guhde; A Suter; E L Eskelinen; D Hartmann; R Lüllmann-Rauch; P M Janssen; J Blanz; K von Figura; P Saftig
Journal:  Nature       Date:  2000-08-24       Impact factor: 49.962

6.  Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

Authors:  I Nishino; J Fu; K Tanji; T Yamada; S Shimojo; T Koori; M Mora; J E Riggs; S J Oh; Y Koga; C M Sue; A Yamamoto; N Murakami; S Shanske; E Byrne; E Bonilla; I Nonaka; S DiMauro; M Hirano
Journal:  Nature       Date:  2000-08-24       Impact factor: 49.962

7.  Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.

Authors:  Kazuma Sugie; Satoru Noguchi; Yoshimichi Kozuka; Eri Arikawa-Hirasawa; Mikihito Tanaka; Chuanzhu Yan; Paul Saftig; Kurt von Figura; Michio Hirano; Satoshi Ueno; Ikuya Nonaka; Ichizo Nishino
Journal:  J Neuropathol Exp Neurol       Date:  2005-06       Impact factor: 3.685

8.  Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

Authors:  Michael Arad; Barry J Maron; Joshua M Gorham; Walter H Johnson; J Philip Saul; Antonio R Perez-Atayde; Paolo Spirito; Gregory B Wright; Ronald J Kanter; Christine E Seidman; J G Seidman
Journal:  N Engl J Med       Date:  2005-01-27       Impact factor: 91.245

9.  Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments.

Authors:  F Muntoni; G Catani; A Mateddu; M Rimoldi; T Congiu; G Faa; M G Marrosu; C Cianchetti; M Porcu
Journal:  Neuromuscul Disord       Date:  1994-05       Impact factor: 4.296

Review 10.  Clinicopathological features of genetically confirmed Danon disease.

Authors:  K Sugie; A Yamamoto; K Murayama; S J Oh; M Takahashi; M Mora; J E Riggs; J Colomer; C Iturriaga; A Meloni; C Lamperti; S Saitoh; E Byrne; S DiMauro; I Nonaka; M Hirano; I Nishino
Journal:  Neurology       Date:  2002-06-25       Impact factor: 9.910
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  4 in total

1.  Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy Using Quantitative Proteomics and Machine Learning.

Authors:  Gabriella Captur; Wendy E Heywood; Caroline Coats; Stefania Rosmini; Vimal Patel; Luis R Lopes; Richard Collis; Nina Patel; Petros Syrris; Paul Bassett; Ben O'Brien; James C Moon; Perry M Elliott; Kevin Mills
Journal:  Mol Cell Proteomics       Date:  2019-06-26       Impact factor: 5.911

2.  Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

Authors:  James J Dowling; Andrew P Vreede; Sean E Low; Elizabeth M Gibbs; John Y Kuwada; Carsten G Bonnemann; Eva L Feldman
Journal:  PLoS Genet       Date:  2009-02-06       Impact factor: 5.917

3.  Cardiac-specific over-expression of epidermal growth factor receptor 2 (ErbB2) induces pro-survival pathways and hypertrophic cardiomyopathy in mice.

Authors:  Polina Sysa-Shah; Yi Xu; Xin Guo; Frances Belmonte; Byunghak Kang; Djahida Bedja; Scott Pin; Noriko Tsuchiya; Kathleen Gabrielson
Journal:  PLoS One       Date:  2012-08-09       Impact factor: 3.240

Review 4.  Lysosomal Abnormalities in Cardiovascular Disease.

Authors:  Congwu Chi; Andrew S Riching; Kunhua Song
Journal:  Int J Mol Sci       Date:  2020-01-27       Impact factor: 5.923
  4 in total

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