Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look

Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy production and storage in several human tissues while also being a precursor for glycosylation. Galactosylated glycoconjugates, such as glycoproteins, keratan sulfate-containing proteoglycans and glycolipids,...

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Vydáno v:Biochimica et biophysica acta. General subjects Ročník 1865; číslo 8; s. 129898
Hlavní autoři: Conte, Federica, van Buuringen, Nicole, Voermans, Nicol C., Lefeber, Dirk J.
Médium: Journal Article
Jazyk:angličtina
Vydáno: Netherlands Elsevier B.V 01.08.2021
Témata:
cell adhesion
Collagen glycosylation
Congenital disorders of glycosylation
energy
Galactose
Galactosemia
glycolipids
glycosylation
homeostasis
humans
Keratan sulfate
Lysosomal disorders
proteoglycans
Lysosomal disorders
Congenital disorders of glycosylation
Galactose
Collagen glycosylation
Keratan sulfate
Galactosemia
ISSN:0304-4165, 1872-8006, 1872-8006
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Abstract Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy production and storage in several human tissues while also being a precursor for glycosylation. Galactosylated glycoconjugates, such as glycoproteins, keratan sulfate-containing proteoglycans and glycolipids, exert a plethora of biological functions, including structural support, cellular adhesion, intracellular signaling and many more. The biological relevance of galactose is further entailed by the number of pathogenic conditions consequent to defects in galactosylation and galactose homeostasis. The growing number of rare congenital disorders involving galactose along with its recent therapeutical applications are drawing increasing attention to galactose metabolism. In this review, we aim to draw a comprehensive overview of the biological functions of galactose in human cells, including its metabolism and its role in glycosylation, and to provide a systematic description of all known congenital metabolic disorders resulting from alterations of its homeostasis. •Galactose is an important monosaccharide for energy production and glycosylation.•Galactose-containing glycoconjugates fulfill a plethora of biological functions.•A growing number of rare congenital disorders have been linked to galactose homeostasis.•Galactosemia, six CDG and five LSDs have been linked to altered galactose metabolism.•Therapeutical applications of galactose open new horizons for disease management.
AbstractList Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy production and storage in several human tissues while also being a precursor for glycosylation. Galactosylated glycoconjugates, such as glycoproteins, keratan sulfate-containing proteoglycans and glycolipids, exert a plethora of biological functions, including structural support, cellular adhesion, intracellular signaling and many more. The biological relevance of galactose is further entailed by the number of pathogenic conditions consequent to defects in galactosylation and galactose homeostasis. The growing number of rare congenital disorders involving galactose along with its recent therapeutical applications are drawing increasing attention to galactose metabolism. In this review, we aim to draw a comprehensive overview of the biological functions of galactose in human cells, including its metabolism and its role in glycosylation, and to provide a systematic description of all known congenital metabolic disorders resulting from alterations of its homeostasis.
Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy production and storage in several human tissues while also being a precursor for glycosylation. Galactosylated glycoconjugates, such as glycoproteins, keratan sulfate-containing proteoglycans and glycolipids, exert a plethora of biological functions, including structural support, cellular adhesion, intracellular signaling and many more. The biological relevance of galactose is further entailed by the number of pathogenic conditions consequent to defects in galactosylation and galactose homeostasis. The growing number of rare congenital disorders involving galactose along with its recent therapeutical applications are drawing increasing attention to galactose metabolism. In this review, we aim to draw a comprehensive overview of the biological functions of galactose in human cells, including its metabolism and its role in glycosylation, and to provide a systematic description of all known congenital metabolic disorders resulting from alterations of its homeostasis. •Galactose is an important monosaccharide for energy production and glycosylation.•Galactose-containing glycoconjugates fulfill a plethora of biological functions.•A growing number of rare congenital disorders have been linked to galactose homeostasis.•Galactosemia, six CDG and five LSDs have been linked to altered galactose metabolism.•Therapeutical applications of galactose open new horizons for disease management.
Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy production and storage in several human tissues while also being a precursor for glycosylation. Galactosylated glycoconjugates, such as glycoproteins, keratan sulfate-containing proteoglycans and glycolipids, exert a plethora of biological functions, including structural support, cellular adhesion, intracellular signaling and many more. The biological relevance of galactose is further entailed by the number of pathogenic conditions consequent to defects in galactosylation and galactose homeostasis. The growing number of rare congenital disorders involving galactose along with its recent therapeutical applications are drawing increasing attention to galactose metabolism. In this review, we aim to draw a comprehensive overview of the biological functions of galactose in human cells, including its metabolism and its role in glycosylation, and to provide a systematic description of all known congenital metabolic disorders resulting from alterations of its homeostasis.Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy production and storage in several human tissues while also being a precursor for glycosylation. Galactosylated glycoconjugates, such as glycoproteins, keratan sulfate-containing proteoglycans and glycolipids, exert a plethora of biological functions, including structural support, cellular adhesion, intracellular signaling and many more. The biological relevance of galactose is further entailed by the number of pathogenic conditions consequent to defects in galactosylation and galactose homeostasis. The growing number of rare congenital disorders involving galactose along with its recent therapeutical applications are drawing increasing attention to galactose metabolism. In this review, we aim to draw a comprehensive overview of the biological functions of galactose in human cells, including its metabolism and its role in glycosylation, and to provide a systematic description of all known congenital metabolic disorders resulting from alterations of its homeostasis.
ArticleNumber 129898
Author van Buuringen, Nicole
Lefeber, Dirk J.
Voermans, Nicol C.
Conte, Federica
Author_xml – sequence: 1
  givenname: Federica
  surname: Conte
  fullname: Conte, Federica
  email: federica.conte@radboudumc.nl
  organization: Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands
– sequence: 2
  givenname: Nicole
  surname: van Buuringen
  fullname: van Buuringen, Nicole
  organization: Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands
– sequence: 3
  givenname: Nicol C.
  surname: Voermans
  fullname: Voermans, Nicol C.
  email: Nicol.Voermans@radboudumc.nl
  organization: Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands
– sequence: 4
  givenname: Dirk J.
  surname: Lefeber
  fullname: Lefeber, Dirk J.
  email: Dirk.Lefeber@radboudumc.nl
  organization: Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands
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1872-8006
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Issue 8
Keywords Lysosomal disorders
Congenital disorders of glycosylation
Galactose
Collagen glycosylation
Keratan sulfate
Galactosemia
Language English
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PublicationTitle Biochimica et biophysica acta. General subjects
PublicationTitleAlternate Biochim Biophys Acta Gen Subj
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Snippet Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy production and storage in several human tissues while also being a...
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SubjectTerms cell adhesion
Collagen glycosylation
Congenital disorders of glycosylation
energy
Galactose
Galactosemia
glycolipids
glycosylation
homeostasis
humans
Keratan sulfate
Lysosomal disorders
proteoglycans
Title Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look
URI https://dx.doi.org/10.1016/j.bbagen.2021.129898
https://www.ncbi.nlm.nih.gov/pubmed/33878388
https://www.proquest.com/docview/2516226199
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