Astrocytes and lysosomal storage diseases

K. V. Rama Rao, Tammy L Kielian

Research output: Contribution to journalReview article

12 Citations (Scopus)

Abstract

Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity. Neuropathological abnormalities are a feature of several LSDs and when severe, represent an important determinant in disease outcome. Glial dysfunction, particularly in astrocytes, is also observed in numerous LSDs and has been suggested to impact neurodegeneration. This review will discuss the potential role of astrocytes in LSDs and highlight the possibility of targeting glia as a beneficial strategy to counteract the neuropathology associated with LSDs.

Original languageEnglish (US)
Pages (from-to)195-206
Number of pages12
JournalNeuroscience
Volume323
DOIs
StatePublished - May 26 2016

Fingerprint

Lysosomal Storage Diseases
Astrocytes
Neuroglia
Mutation
Enzymes

Keywords

  • Astrocytes
  • Lysosomal storage diseases
  • Mitochondrial dysfunction
  • Neurodegeneration
  • Reactive astrocytosis

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Astrocytes and lysosomal storage diseases. / Rama Rao, K. V.; Kielian, Tammy L.

In: Neuroscience, Vol. 323, 26.05.2016, p. 195-206.

Research output: Contribution to journalReview article

Rama Rao, K. V. ; Kielian, Tammy L. / Astrocytes and lysosomal storage diseases. In: Neuroscience. 2016 ; Vol. 323. pp. 195-206.
@article{39be26ced98f4ae8b49bbe10cf42de4c,
title = "Astrocytes and lysosomal storage diseases",
abstract = "Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity. Neuropathological abnormalities are a feature of several LSDs and when severe, represent an important determinant in disease outcome. Glial dysfunction, particularly in astrocytes, is also observed in numerous LSDs and has been suggested to impact neurodegeneration. This review will discuss the potential role of astrocytes in LSDs and highlight the possibility of targeting glia as a beneficial strategy to counteract the neuropathology associated with LSDs.",
keywords = "Astrocytes, Lysosomal storage diseases, Mitochondrial dysfunction, Neurodegeneration, Reactive astrocytosis",
author = "{Rama Rao}, {K. V.} and Kielian, {Tammy L}",
year = "2016",
month = "5",
day = "26",
doi = "10.1016/j.neuroscience.2015.05.061",
language = "English (US)",
volume = "323",
pages = "195--206",
journal = "Neuroscience",
issn = "0306-4522",
publisher = "Elsevier Limited",

}

TY - JOUR

T1 - Astrocytes and lysosomal storage diseases

AU - Rama Rao, K. V.

AU - Kielian, Tammy L

PY - 2016/5/26

Y1 - 2016/5/26

N2 - Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity. Neuropathological abnormalities are a feature of several LSDs and when severe, represent an important determinant in disease outcome. Glial dysfunction, particularly in astrocytes, is also observed in numerous LSDs and has been suggested to impact neurodegeneration. This review will discuss the potential role of astrocytes in LSDs and highlight the possibility of targeting glia as a beneficial strategy to counteract the neuropathology associated with LSDs.

AB - Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity. Neuropathological abnormalities are a feature of several LSDs and when severe, represent an important determinant in disease outcome. Glial dysfunction, particularly in astrocytes, is also observed in numerous LSDs and has been suggested to impact neurodegeneration. This review will discuss the potential role of astrocytes in LSDs and highlight the possibility of targeting glia as a beneficial strategy to counteract the neuropathology associated with LSDs.

KW - Astrocytes

KW - Lysosomal storage diseases

KW - Mitochondrial dysfunction

KW - Neurodegeneration

KW - Reactive astrocytosis

UR - http://www.scopus.com/inward/record.url?scp=84930905283&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84930905283&partnerID=8YFLogxK

U2 - 10.1016/j.neuroscience.2015.05.061

DO - 10.1016/j.neuroscience.2015.05.061

M3 - Review article

C2 - 26037807

AN - SCOPUS:84930905283

VL - 323

SP - 195

EP - 206

JO - Neuroscience

JF - Neuroscience

SN - 0306-4522

ER -