Literature DB >> 30697734

Lysosomal storage disorders: pathology within the lysosome and beyond.

Tammy Kielian1.   

Abstract

This Preface introduces the articles of the special issue on "Lysosomal Storage Disorders" in which several recognized experts provide an overview of this research field. Lysosomes were first described in the 1950s and recognized for their role in substrate degradation and recycling. Because lysosomes impact numerous fundamental homeostatic processes, research on lysosomal storage disorders (LSDs) is crucial to advance our understanding of this intriguing organelle. This Special Issue highlights some of the LSDs that impact the central nervous system (CNS) as well as comprehensive overviews of lysosomal biology, CNS metabolism, and sphingolipid biosynthesis and turnover, all of which are critical toward our understanding of normal lysosomal function and how this is perturbed in the context of LSDs. This is the Preface for the special issue "Lysosomal Storage Disorders". Cover Image for this issue: doi: 10.1111/jnc.14496.
© 2019 International Society for Neurochemistry.

Entities:  

Keywords:  Lysosomal storage disorders; juvenile Batten disease; lysosome; mucolipidosis type IV; mucopolysaccharidoses; transcription factor EB (TFEB)

Mesh:

Year:  2019        PMID: 30697734     DOI: 10.1111/jnc.14672

Source DB:  PubMed          Journal:  J Neurochem        ISSN: 0022-3042            Impact factor:   5.372


  5 in total

Review 1.  Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.

Authors:  Emilia M Gatto; Gustavo Da Prat; Jose Luis Etcheverry; Guillermo Drelichman; Martin Cesarini
Journal:  Brain Sci       Date:  2019-02-01

2.  Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.

Authors:  Laura E Kuil; Anna López Martí; Ana Carreras Mascaro; Jeroen C van den Bosch; Paul van den Berg; Herma C van der Linde; Kees Schoonderwoerd; George J G Ruijter; Tjakko J van Ham
Journal:  Glia       Date:  2019-05-29       Impact factor: 7.452

Review 3.  The Regulation of MiTF/TFE Transcription Factors Across Model Organisms: from Brain Physiology to Implication for Neurodegeneration.

Authors:  Francesco Agostini; Rossella Agostinis; Diego L Medina; Marco Bisaglia; Elisa Greggio; Nicoletta Plotegher
Journal:  Mol Neurobiol       Date:  2022-06-04       Impact factor: 5.682

4.  Early onset effects of single substrate accumulation recapitulate major features of LSD in patient-derived lysosomes.

Authors:  Gianluca Scerra; Valeria De Pasquale; Luigi Michele Pavone; Maria Gabriella Caporaso; Andreas Mayer; Maurizio Renna; Massimo D'Agostino
Journal:  iScience       Date:  2021-06-10

5.  Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism.

Authors:  Valeria De Pasquale; Marianna Caterino; Michele Costanzo; Roberta Fedele; Margherita Ruoppolo; Luigi Michele Pavone
Journal:  Int J Mol Sci       Date:  2020-06-12       Impact factor: 5.923

  5 in total

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