SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy

Raynor, Alexandre; Haouari, Walid; Ng, Bobby G.; Cholet, Sophie; Harroche, Annie; Raulet-Bussian, Célia; Lounis-Ouaras, Samra; Vuillaumier‐Barrot, Sandrine; Pascreau, Tiffany; Borgel, Delphine; Freeze, Hudson H.; Fenaille, François; Bruneel, Arnaud

doi:10.1016/j.cca.2021.07.005

Cited by 4 publications

(2 citation statements)

References 9 publications

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“…SLC37A4 encodes a glucose-6-phosphate (G6P) transporter at the endoplasmic reticulum (ER) disrupting liver Golgi homeostasis (pH and morphology), glycosylation and coagulation factors levels. 41 Carriers of variants in the gene experience liver dysfunction and coagulopathy. 42 Transaldolase 1 deficiency is an inherited metabolic disorder of the pentose phosphate pathway in which G6P is converted to ribose-5-phosphate through a series of reactions.…”

Section: Disorders Of Carbohydrate Metabolismmentioning

confidence: 99%

“…Another interesting condition is glycogen storage disorder 1b characterised by liver and kidney dysfunction with neutropenia caused by pathogenic variants in SLC37A4 . SLC37A4 encodes a glucose‐6‐phosphate (G6P) transporter at the endoplasmic reticulum (ER) disrupting liver Golgi homeostasis (pH and morphology), glycosylation and coagulation factors levels 41 . Carriers of variants in the gene experience liver dysfunction and coagulopathy 42 …”

Section: Disorders Of Carbohydrate Metabolismmentioning

confidence: 99%

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Genetic aetiologies of acute liver failure

Hegarty,

Thompson

2024

J of Inher Metab Disea

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Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating consequences where definitive treatment is by emergency liver transplantation. Establishing a diagnosis can be challenging and, historically, the cause of ALF was unidentified in up to half of children. However, recent technological and clinical advances in genomic medicine have led to an increasing proportion being diagnosed with monogenic aetiologies of ALF. The conditions encountered include a diverse group of inherited metabolic disorders each with prognostic and treatment implications. Often these disorders are clinically indistinguishable and may even mimic disorders of immune regulation or red cell disorders. Rapid genomic sequencing for children with ALF is, therefore, a key component in the diagnostic work up today. This review focuses on the monogenic aetiologies of ALF.

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Section: Disorders Of Carbohydrate Metabolismmentioning

confidence: 99%

Section: Disorders Of Carbohydrate Metabolismmentioning

confidence: 99%

Genetic aetiologies of acute liver failure

Hegarty,

Thompson

2024

J of Inher Metab Disea

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Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Harvey

2024

Mass Spectrometry Reviews

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The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022. As with previous review, this review also includes a few papers that describe methods appropriate to analysis by MALDI, such as sample preparation, even though the ionization method is not MALDI. The review follows the same format as previous reviews. It is divided into three sections: (1) general aspects such as theory of the MALDI process, matrices, derivatization, MALDI imaging, fragmentation, quantification and the use of computer software for structural identification. (2) Applications to various structural types such as oligo‐ and polysaccharides, glycoproteins, glycolipids, glycosides and biopharmaceuticals, and (3) other general areas such as medicine, industrial processes, natural products and glycan synthesis where MALDI is extensively used. Much of the material relating to applications is presented in tabular form. MALDI is still an ideal technique for carbohydrate analysis, particularly in its ability to produce single ions from each analyte and advancements in the technique and range of applications show little sign of diminishing.

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