Inherited disorders of lysosomal membrane transporters.
Amino Acid Transport Systems, Neutral
/ genetics
Cystinosis
/ genetics
Histiocytosis
/ genetics
Humans
Lysosomal Storage Diseases
/ genetics
Lysosomes
/ metabolism
Membrane Transport Proteins
/ genetics
Nucleoside Transport Proteins
/ genetics
Organic Anion Transporters
/ genetics
Sialic Acid Storage Disease
/ genetics
Symporters
/ genetics
Lysosomal ion transport
Lysosomal metabolite export
Lysosomal metabolite import
Lysosomal storage disease (LSD)
Lysosomal targeting motif
Organelle acidification
Solute carrier transporter (SLC)
Journal
Biochimica et biophysica acta. Biomembranes
ISSN: 1879-2642
Titre abrégé: Biochim Biophys Acta Biomembr
Pays: Netherlands
ID NLM: 101731713
Informations de publication
Date de publication:
01 12 2020
01 12 2020
Historique:
received:
30
01
2020
revised:
01
04
2020
accepted:
28
04
2020
pubmed:
12
5
2020
medline:
30
12
2020
entrez:
12
5
2020
Statut:
ppublish
Résumé
Disorders caused by defects in lysosomal membrane transporters form a distinct subgroup of lysosomal storage disorders (LSDs). To date, defects in only 10 lysosomal membrane transporters have been associated with inherited disorders. The clinical presentations of these diseases resemble the phenotypes of other LSDs; they are heterogeneous and often present in children with neurodegenerative manifestations. However, for pathomechanistic and therapeutic studies, lysosomal membrane transport defects should be distinguished from LSDs caused by defective hydrolytic enzymes. The involved proteins differ in function, localization, and lysosomal targeting, and the diseases themselves differ in their stored material and therapeutic approaches. We provide an overview of the small group of disorders of lysosomal membrane transporters, emphasizing discovery, pathomechanism, clinical features, diagnostic methods and therapeutic aspects. We discuss common aspects of lysosomal membrane transporter defects that can provide the basis for preclinical research into these disorders.
Identifiants
pubmed: 32389669
pii: S0005-2736(20)30176-0
doi: 10.1016/j.bbamem.2020.183336
pmc: PMC7508925
mid: NIHMS1598375
pii:
doi:
Substances chimiques
Amino Acid Transport Systems, Neutral
0
CTNS protein, human
0
Membrane Transport Proteins
0
Nucleoside Transport Proteins
0
Organic Anion Transporters
0
SLC29A3 protein, human
0
Symporters
0
sialic acid transport proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
183336Subventions
Organisme : Intramural NIH HHS
ID : Z01 HG000215
Pays : United States
Informations de copyright
Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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