Nutrition interventions in congenital disorders of glycosylation

Boyer, Suzanne; Johnsen, Christin; Morava, Éva

doi:10.1016/j.molmed.2022.04.003

Cited by 16 publications

(8 citation statements)

References 89 publications

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“…The transport of monosaccharides provides the cell with energy and metabolic precursors used for a diverse range of processes. Understanding how these sugars are transported and utilized becomes especially important since various diseases/disorders (LADII, GFUS-CDG, SLC35A2-CDG, PGM1-CDG, colitis, various cancers) are already using or exploring “monosaccharide therapy” ( 9 , 20 , 21 ).…”

Section: Discussionmentioning

confidence: 99%

GLUT1 is a highly efficient L-fucose transporter

Ng¹,

Sosicka²,

Xia³

et al. 2023

Journal of Biological Chemistry

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Section: Discussionmentioning

confidence: 99%

GLUT1 is a highly efficient L-fucose transporter

Ng¹,

Sosicka²,

Xia³

et al. 2023

Journal of Biological Chemistry

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“…Possibly, 1-2% of the genome produces glycan biosynthesis-related proteins, such as glycosyltransferases, glycosidases, and transporters. Carbohydrate biosynthesis does not follow "the central dogma," [87] but several factors instead [88], such as levels, activities, and trafficking of glycosyltransferases, availabilities of carriers and nucleotide sugar substrates, different physiological functions and statuses, and a variety of outer stimuli [89], such as nutrition [89], oxidative stress [90], and so on.…”

Section: Lectin Microarray a "Sugar Decipher" For Sperm Surface Glyco...mentioning

confidence: 99%

Glycosylation on Spermatozoa, a Promise for the Journey to the Oocyte

Wang¹,

Li²,

Xin³

et al. 2024

Modifications in Biomacromolecules

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Spermatozoa experience a long and tough transit in male and female genital tracts before successful fertilization. Glycosylation helps spermatogenesis, epididymal maturation, passing through cervical mucus, avoiding killing of the female immunologic system, and shaking hands between sperm and egg. Changes in glycosylations along the transit ensure that the right things happen at the right time and place on spermatozoa. Aberrant glycosylations on spermatozoa will negatively affect their fertility. Thus, we developed a lectin array method to examine the glycocalyx of spermatozoa, which will help observe glycosylations occurring on spermatozoa in a normal or abnormal conditions, such as spermatozoa with DEF126 mutation and poor freezability. Intriguingly, binding levels of ABA (Agaricus bisporus agglutinin), a lectin marking the inner layer of the glycocalyx, were changed in these subfertile spermatozoa, which indicates that the integrity of glycocalyx is critical for sperm fertility. In this chapter, we reviewed the impacts of glycosylations on sperm fertility, the lectin array method, and its potential application for sperm function assessment.

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“…Fortunately, a considerable effort has been made in the last decades to improve treatment for this group of disorders, targeting both the genetic causes and the phenotypic consequences [132]. IEMs with a characteristic metabolic phenotype can sometimes be treated with dietary restrictions [13,130] and/or with the use of enzyme inhibitors to avoid the accumulation of metabolic by-products [28]. Yet, small molecule drugs often work by minimizing symptoms rather than curing the disease.…”

Section: Therapeutic Interventions In Rds Other Than Pcmentioning

confidence: 99%

The use of pharmacological chaperones in rare diseases caused by reduced protein stability

et al. 2022

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Rare diseases are most often caused by inherited genetic disorders that, after translation, will result in a protein with altered function. Decreased protein stability is the most frequent mechanism associated with a congenital pathogenic missense mutation and it implies the destabilization of the folded conformation in favour of unfolded or misfolded states. In the cellular context and when experimental data is available, a mutant protein with altered thermodynamic stability often also results in impaired homeostasis, with the deleterious accumulation of protein aggregates, metabolites and/or metabolic by‐products. In the last decades, a significant effort has enabled the characterization of rare diseases associated to protein stability defects and triggered the development of innovative therapeutic intervention lines, say, the use of pharmacological chaperones to correct the intracellular impaired homeostasis. Here, we review the current knowledge on rare diseases caused by reduced protein stability, paying special attention to the thermodynamic aspects of the protein destabilization, also focusing on some examples where pharmacological chaperones are being tested.

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Nutrition interventions in congenital disorders of glycosylation

Cited by 16 publications

References 89 publications

GLUT1 is a highly efficient L-fucose transporter

GLUT1 is a highly efficient L-fucose transporter

Glycosylation on Spermatozoa, a Promise for the Journey to the Oocyte

The use of pharmacological chaperones in rare diseases caused by reduced protein stability

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