Concepedia

Danon Disease

Danon Disease is a rare X-linked lysosomal storage disorder characterized by mutations in the LAMP2 gene that disrupt autophagic flux, leading to pathological accumulations in cardiac, skeletal, and neuronal tissues.

115

Publications

5.7K

Citations

846

Authors

252

Institutions

Publications per year

2017–2026

37

Variants

Glycogen Storage Disease Type IibLamp2 Deficiency

Parents

Publications

115

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

Ichizo Nishino, Jin Fu, Kurenai Tanji et al. · Nature · 2000 · 942 citations

, , +5

Mitochondria are secreted in extracellular vesicles when lysosomal function is impaired

Wenjing Liang, Shakti Sagar, Rishith Ravindran et al. · Nature Communications · 2023 · 244 citations · Full text

, , +17

LAMP-2: A control step for phagosome and autophagosome maturation

Paul Säftig, W. Beertsen, Eeva‐Liisa Eskelinen · Autophagy · 2008 · 231 citations

, , +15

Natural history of Danon disease

Dana Boucek, Jean Jirikowic, Matthew R.G. Taylor · Genetics in Medicine · 2011 · 230 citations

, , +6

Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children

Yang Zhao, Colin J. McMahon, Liana R. Smith et al. · Circulation · 2005 · 176 citations · Full text

, , +14

1–5 of 115

Authors

846

  1. IN
    Ichizo Nishino

    National Center of Neurology and Psychiatry, Japan

    14 publications · 1.5K citations

    14

    h-index

  2. MR
    Matthew R.G. Taylor

    University of Colorado Anschutz Medical Campus, United States

    13 publications · 854 citations

    13

    h-index

  3. EA
    Eric Adler

    University of California San Diego, United States

    7 publications · 547 citations

    7

    h-index

  4. IN
    Ikuya Nonaka

    National Center of Neurology and Psychiatry, Japan

    7 publications · 1.3K citations

    7

    h-index

  5. TK
    Tomáš Kalina

    Charles University, Czechia

    6 publications · 105 citations

    6

    h-index

1–5 of 846

Institutions

252

  1. National Center of Neurology and Psychiatry

    Tokyo, Japan

    14 h-index

    52 publications

    5.2K citations

  2. University of California San Diego

    San Diego, United States

    10 h-index

    83 publications

    7.5K citations

  3. University of Colorado Denver

    Denver, United States

    9 h-index

    46 publications

    3.2K citations

  4. Inserm

    Paris, France

    8 h-index

    36 publications

    1.5K citations

  5. University of Colorado Anschutz Medical Campus

    Aurora, United States

    8 h-index

    33 publications

    2.5K citations

  6. Charles University

    Prague, Czechia

    7 h-index

    61 publications

    1K citations

  7. Institute of Clinical and Experimental Medicine

    Prague, Czechia

    5 h-index

    15 publications

    242 citations

  8. General University Hospital in Prague

    Prague, Czechia

    5 h-index

    39 publications

    599 citations

1–8 of 252

Venues

  1. Neuromuscular Disorders

    8 publications · 270 citations

    8

    h-index

  2. Muscle & Nerve

    6 publications · 168 citations

    6

    h-index

  3. Neurology

    6 publications · 173 citations

    6

    h-index

  4. Circulation

    5 publications · 283 citations

    5

    h-index

  5. European Heart Journal

    3 publications · 69 citations

    3

    h-index

1–5