scholarly journals Autophagic vacuolar myopathy: Danon disease and related myopathies

2021 ◽  
Author(s):  
Kazuma Sugie
Keyword(s):  
Danon Disease ◽  
Vacuolar Myopathy

Danon disease (X-linked vacuolar myopathy): a case with a novel LAMP-2 mutation

2007 ◽  
Vol 91 ◽  
pp. 157-157
Author(s):  
L Lacoste-Collin ◽  
V Garcia ◽  
E Uro-Coste ◽  
MC Arne-Bes ◽  
D Durand ◽  
...  
Keyword(s):  
Danon Disease ◽  
Vacuolar Myopathy

Danon Disease as a Cause of Autophagic Vacuolar Myopathy

2007 ◽  
Vol 2 (6) ◽  
pp. 404-409 ◽  
Author(s):  
Zhao Yang ◽  
Matteo Vatta
Keyword(s):  
Danon Disease ◽  
Vacuolar Myopathy

Infantile autophagic vacuolar myopathy is distinct from Danon disease

Neurology ◽  
2001 ◽  
Vol 57 (5) ◽  
pp. 903-905 ◽  
Author(s):  
A. Yamamoto ◽  
Y. Morisawa ◽  
A. Verloes ◽  
N. Murakami ◽  
M. Hirano ◽  
...  
Keyword(s):  
Danon Disease ◽  
Vacuolar Myopathy

Danon disease (autophagic vacuolar myopathy): clinicopathologic features of a kindred

2007 ◽  
Vol 21 (5) ◽  
Author(s):  
Rodney D McComb ◽  
Stanley J Radio ◽  
Janice L McAllister ◽  
Christopher C Erickson ◽  
Gary L Pattee ◽  
...  
Keyword(s):  
Clinicopathologic Features ◽  
Danon Disease ◽  
Vacuolar Myopathy

Danon disease (autophagic vacuolar myopathy): clinicopathologic features of a kindred

2007 ◽  
Vol 66 (5) ◽  
pp. 450
Author(s):  
Rodney D. McComb ◽  
Stanley J. Radio ◽  
Janice L. McAllister ◽  
Christopher C. Erickson ◽  
Gary L. Pattee ◽  
...  
Keyword(s):  
Clinicopathologic Features ◽  
Danon Disease ◽  
Vacuolar Myopathy

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

Early diagnosis of infantile Danon disease complicated by tetralogy of Fallot

2021 ◽  
Author(s):  
Tsubasa Shimozono ◽  
Kentaro Ueno ◽  
Naohiro Shiokawa ◽  
Seiko Ohno ◽  
Yoshifumi Kawano
Keyword(s):  
Early Diagnosis ◽  
Tetralogy Of Fallot ◽  
Danon Disease

P2.26 Clinical, histological and molecular genetic features of a congenital severe infantile rimmed vacuolar myopathy

2010 ◽  
Vol 20 (9-10) ◽  
pp. 626
Author(s):  
A. D’Amico ◽  
S. Petrini ◽  
F. Fattori ◽  
M. Verardo ◽  
R. Boldrini ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Vacuolar Myopathy ◽  
Genetic Features ◽  
Rimmed Vacuolar Myopathy

A novel nonsense variant associated with Danon disease in a pediatric male: A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S23
Author(s):  
Daniela Castillo-Garcia ◽  
Magdalena Cerón-Rodriguez ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Jesús Aguirre-Hernández ◽  
Judith Almanza-Aranda ◽  
...  
Keyword(s):  
Case Report ◽  
Danon Disease

scholarly journals LAMP-2B regulates human cardiomyocyte function by mediating autophagosome–lysosome fusion

2018 ◽  
Vol 116 (2) ◽  
pp. 556-565 ◽  
Author(s):  
Congwu Chi ◽  
Andrea Leonard ◽  
Walter E. Knight ◽  
Kevin M. Beussman ◽  
Yuanbiao Zhao ◽  
...  
Keyword(s):  
Heart Failure ◽  
Membrane Protein ◽  
Pluripotent Stem Cells ◽  
Coiled Coil ◽  
Gene Correction ◽  
Danon Disease ◽  
Human Cardiomyocytes ◽  
Coiled Coil Domain ◽  
Induced Pluripotent ◽  
Isoform B

Mutations in lysosomal-associated membrane protein 2 (LAMP-2) gene are associated with Danon disease, which often leads to cardiomyopathy/heart failure through poorly defined mechanisms. Here, we identify the LAMP-2 isoform B (LAMP-2B) as required for autophagosome–lysosome fusion in human cardiomyocytes (CMs). Remarkably, LAMP-2B functions independently of syntaxin 17 (STX17), a protein that is essential for autophagosome–lysosome fusion in non-CMs. Instead, LAMP-2B interacts with autophagy related 14 (ATG14) and vesicle-associated membrane protein 8 (VAMP8) through its C-terminal coiled coil domain (CCD) to promote autophagic fusion. CMs derived from induced pluripotent stem cells (hiPSC-CMs) from Danon patients exhibit decreased colocalization between ATG14 and VAMP8, profound defects in autophagic fusion, as well as mitochondrial and contractile abnormalities. This phenotype was recapitulated by LAMP-2B knockout in non-Danon hiPSC-CMs. Finally, gene correction of LAMP-2 mutation rescues the Danon phenotype. These findings reveal a STX17-independent autophagic fusion mechanism in human CMs, providing an explanation for cardiomyopathy in Danon patients and a foundation for targeting defective LAMP-2B–mediated autophagy to treat this patient population.

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