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Disorders of Cellular Trafficking

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Inborn Metabolic Diseases

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Abstract

Cellular trafficking is essential to maintain critical biological functions. The machinery of proteins and the mechanisms that regulate membrane trafficking is immense and tend to be cell and tissue specific. Mutations in more than 300 genes are known to be associated with disorders of cellular trafficking and include those that affect: (i) membrane trafficking, that mediate the most important pathway to move cargo using membrane bound transport vesicles; (ii) membrane contact sites (MCS) or areas of close apposition between the membranes of organelles; (iii) Other mechanisms such as cytoskeleton mediated cargo/organelle transport, transcytosis, regulation of membrane phospholipids, and gap junctions.

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Authors and Affiliations

  1. Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain

    Ángeles García-Cazorla

  2. Division of Metabolism, Bambino Gesù Children’s Hospital, Rome, Italy

    Carlo Dionisi-Vici

  3. Paris, France

    Jean-Marie Saudubray

Authors
  1. Ángeles García-Cazorla
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  2. Carlo Dionisi-Vici
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  3. Jean-Marie Saudubray
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Correspondence to Ángeles García-Cazorla .

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Editors and Affiliations

  1. Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, University of Zurich, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Servicio de Neurologia, Hospital Sant Joan de Deu, Barcelona, Barcelona, Spain

    Ángeles García-Cazorla

  4. Developmental Biology and Medicine, School of Medical Sciences, University of Manchester, Manchester, UK

    John Walter

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García-Cazorla, Á., Dionisi-Vici, C., Saudubray, JM. (2022). Disorders of Cellular Trafficking. In: Saudubray, JM., Baumgartner, M.R., García-Cazorla, Á., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-63123-2_44

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