Concepedia

Substrate Accumulation

Substrate Accumulation is a pathological process in which undegraded macromolecules build up within lysosomes due to enzymatic deficiencies, leading to cellular dysfunction and manifesting as a hallmark feature of lysosomal storage disorders.

101

Publications

5.4K

Citations

547

Authors

209

Institutions

Publications per year

2017–2026

29

Parents

Publications

101

Sorbitol Pathway: Presence in Nerve and Cord with Substrate Accumulation in Diabetes

Kenneth H. Gabbay, L Merola, R. A. Field · Science · 1966 · 399 citations

, , +10

Transport and metabolism of deoxycytidine and 1-beta-D-arabinofuranosylcytosine into cultured Novikoff rat hepatoma cells, relationship to phosphorylation, and regulation of triphosphate synthesis.

Peter G.W. Plagemann, Richard März, Robert M. Wohlhueter · PubMed · 1978 · 191 citations

, , +14

Influence of major structural features of tocopherols and tocotrienols on their ω-oxidation by tocopherol-ω-hydroxylase

Timothy J. Sontag, Robert S. Parker · Journal of Lipid Research · 2007 · 180 citations · Full text

, , +17

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease

Mylene Huebecker, Elizabeth B. Moloney, Aarnoud C. van der Spoel et al. · Molecular Neurodegeneration · 2019 · 171 citations · Full text

, , +17

Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy.

Michael P. Whyte, M Landt, Louise Ryan et al. · Journal of Clinical Investigation · 1995 · 166 citations · Full text

, , +7

1–5 of 101

Authors

547

  1. JJ
    John J. Hopwood

    Women's and Children's Hospital, Australia

    5 publications · 88 citations

    5

    h-index

  2. JM
    Johannes M. F. G. Aerts

    Amsterdam UMC Location University of Amsterdam, Netherlands

    4 publications · 155 citations

    4

    h-index

  3. HB
    Helen Beard

    South Australian Health and Medical Research Institute, Australia

    3 publications · 60 citations

    3

    h-index

  4. BK
    Barbara King

    Women's and Children's Hospital, Australia

    3 publications · 60 citations

    3

    h-index

  5. SH
    Sofia Hassiotis

    South Australian Health and Medical Research Institute, Australia

    3 publications · 60 citations

    3

    h-index

1–5 of 547

Institutions

209

  1. University of California San Diego

    San Diego, United States

    3 h-index

    5 publications

    258 citations

  2. Women's and Children's Hospital

    Adelaide, Australia

    3 h-index

    9 publications

    138 citations

  3. University of Manchester

    Manchester, United Kingdom

    3 h-index

    12 publications

    193 citations

  4. New York University

    New York, United States

    3 h-index

    4 publications

    321 citations

  5. Harvard University

    Cambridge, United States

    3 h-index

    7 publications

    1.7K citations

  6. South Australian Health and Medical Research Institute

    Adelaide, Australia

    3 h-index

    23 publications

    460 citations

  7. National Institutes of Health

    Bethesda, United States

    3 h-index

    8 publications

    510 citations

  8. Merck & Co., Inc., Rahway, NJ, USA (United States)

    Rahway, United States

    2 h-index

    30 publications

    1.2K citations

1–8 of 209

Venues

  1. PubMed

    Repository · 5 publications · 275 citations

    5

    h-index

  2. PLoS ONE

    5 publications · 333 citations

    5

    h-index

  3. Journal of Lipid Research

    JLR · 4 publications · 474 citations

    4

    h-index

  4. Journal of Biological Chemistry

    JBC · 4 publications · 104 citations

    4

    h-index

  5. Molecular Therapy

    2 publications · 48 citations

    2

    h-index

1–5