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Torres S, Balboa E, Zanlungo S, et al. Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease. Front Physiol. 2017;8:982doi: 10.3389/fphys.2017.00982.
Torres, S., Balboa, E., Zanlungo, S., Enrich, C., Garcia-Ruiz, C., & Fernandez-Checa, J. C. (2017). Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease. Frontiers in physiology, 8982. https://doi.org/10.3389/fphys.2017.00982
Torres, Sandra, et al. "Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease." Frontiers in physiology vol. 8 (2017): 982. doi: https://doi.org/10.3389/fphys.2017.00982
Torres S, Balboa E, Zanlungo S, Enrich C, Garcia-Ruiz C, Fernandez-Checa JC. Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease. Front Physiol. 2017 Nov 30;8:982. doi: 10.3389/fphys.2017.00982. eCollection 2017. PMID: 29249985; PMCID: PMC5714892.
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Front Physiol. 2017 Nov 30;8:982. doi: 10.3389/fphys.2017.00982. eCollection 2017.

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease.

Frontiers in physiology

Sandra Torres, Elisa Balboa, Silvana Zanlungo, Carlos Enrich, Carmen Garcia-Ruiz, Jose C Fernandez-Checa

Affiliations

  1. Department of Cell Death and Proliferation, Intituto de Investigaciones Biomédicas de Barcelona, Consejo Superior de Investigaciones Científicas, Barcelona, Spain.
  2. Liver Unit and Hospital Clinc I Provincial, Centro de Investigación Biomédica en Red (CIBEREHD), Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
  3. Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
  4. Departamento de Biomedicina, Unidad de Biología Celular, Centro de Investigación Biomédica CELLEX, Facultad de Medicina y Ciencias de la Salud, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Universidad de Barcelona, Barcelona, Spain.
  5. Southern California Research Center for ALDP and Cirrhosis, Los Angeles, CA, United States.

PMID: 29249985 PMCID: PMC5714892 DOI: 10.3389/fphys.2017.00982

Abstract

Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct lysosomal-residing proteins, acid sphingomyelinase and NPC1, respectively. While the primary cause of these diseases differs, both share common biochemical features, including the accumulation of sphingolipids and cholesterol, predominantly in endolysosomes. Besides these alterations in lysosomal homeostasis and function due to accumulation of specific lipid species, the lysosomal functional defects can have far-reaching consequences, disrupting

Keywords: acid sphingomyelinase; cholesterol; intracellular trafficking; lysosomal disorders; lysosomes; mitochondria; sphingolipids

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