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327 Results Found

  • Review
  • Open Access
19 Citations
5,549 Views
30 Pages

Delivery of Nucleotide Sugars to the Mammalian Golgi: A Very Well (un)Explained Story

  • Dorota Maszczak-Seneczko,
  • Maciej Wiktor,
  • Edyta Skurska,
  • Wojciech Wiertelak and
  • Mariusz Olczak

Nucleotide sugars (NSs) serve as substrates for glycosylation reactions. The majority of these compounds are synthesized in the cytoplasm, whereas glycosylation occurs in the endoplasmic reticulum (ER) and Golgi lumens, where catalytic domains of gly...

  • Article
  • Open Access
10 Citations
4,786 Views
20 Pages

15 October 2021

Traditional glycosyltransferase (GT) activity assays are not easily configured for rapid detection nor for high throughput screening because they rely on radioactive product isolation, the use of heterogeneous immunoassays or mass spectrometry. In a...

  • Article
  • Open Access
20 Citations
5,070 Views
19 Pages

SLC35A5 Protein—A Golgi Complex Member with Putative Nucleotide Sugar Transport Activity

  • Paulina Sosicka,
  • Bożena Bazan,
  • Dorota Maszczak-Seneczko,
  • Yauhen Shauchuk,
  • Teresa Olczak and
  • Mariusz Olczak

Solute carrier family 35 member A5 (SLC35A5) is a member of the SLC35A protein subfamily comprising nucleotide sugar transporters. However, the function of SLC35A5 is yet to be experimentally determined. In this study, we inactivated the SLC35A5 gene...

  • Article
  • Open Access
7 Citations
4,085 Views
18 Pages

Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells

  • Federica Conte,
  • Marek J. Noga,
  • Monique van Scherpenzeel,
  • Raisa Veizaj,
  • Rik Scharn,
  • Juda-El Sam,
  • Chiara Palumbo,
  • Frans C. A. van den Brandt,
  • Christian Freund and
  • Dirk J. Lefeber
  • + 2 authors

3 July 2023

Metabolism not only produces energy necessary for the cell but is also a key regulator of several cellular functions, including pluripotency and self-renewal. Nucleotide sugars (NSs) are activated sugars that link glucose metabolism with cellular fun...

  • Article
  • Open Access
994 Views
14 Pages

Genetic Editing of Tomato Golgi-Localized Nucleotide Sugar Transporter 1.1 Promotes Immunity Against Phytophthora infestans

  • Peize He,
  • Yanling Cai,
  • Yanzi Wang,
  • Zhiqing Wang,
  • Yaqing Lyu,
  • Tao Li,
  • Xingtan Zhang and
  • Shaoqun Zhou

21 April 2025

Background: Functional alleles of host plant susceptibility genes (S genes) can exacerbate the severity of diseases by enhancing pathogen compatibility. Genetic editing of the targeted host S genes has demonstrated remarkable efficacy in conferring b...

  • Article
  • Open Access
6 Citations
2,576 Views
16 Pages

Residence of the Nucleotide Sugar Transporter Family Members SLC35F1 and SLC35F6 in the Endosomal/Lysosomal Pathway

  • François Van den Bossche,
  • Virginie Tevel,
  • Florentine Gilis,
  • Jean-François Gaussin,
  • Marielle Boonen and
  • Michel Jadot

The SLC35 (Solute Carrier 35) family members acting as nucleotide sugar transporters are typically localized in the endoplasmic reticulum or Golgi apparatus. It is, therefore, intriguing that some reports document the presence of orphan transporters...

  • Opinion
  • Open Access
2 Citations
3,115 Views
9 Pages

Harnessing Plant Sugar Metabolism for Glycoengineering

  • Sophia N. Tang,
  • Collin R. Barnum,
  • Matthew J. Szarzanowicz,
  • Sasilada Sirirungruang and
  • Patrick M. Shih

8 December 2023

Plants possess an innate ability to generate vast amounts of sugar and produce a range of sugar-derived compounds that can be utilized for applications in industry, health, and agriculture. Nucleotide sugars lie at the unique intersection of primary...

  • Article
  • Open Access
717 Views
22 Pages

6 September 2025

Arabinogalactan proteins (AGPs) and extensins influence cell wall assembly and regulate plant cell mechanical properties through interactions with extracellular matrix polymers. These proteins may play a key role in the biochemical events underlying...

  • Article
  • Open Access
756 Views
13 Pages

30 September 2025

Submergence during germination is a major barrier to the adoption of direct-seeded rice (DSR). Despite its importance in overcoming this barrier, the genetic architecture underlying the rapid coleoptile elongation under submergence remains largely el...

  • Review
  • Open Access
84 Citations
11,328 Views
36 Pages

Leloir Glycosyltransferases in Applied Biocatalysis: A Multidisciplinary Approach

  • Luuk Mestrom,
  • Marta Przypis,
  • Daria Kowalczykiewicz,
  • André Pollender,
  • Antje Kumpf,
  • Stefan R. Marsden,
  • Isabel Bento,
  • Andrzej B. Jarzębski,
  • Katarzyna Szymańska and
  • Peter-Leon Hagedoorn
  • + 4 authors

23 October 2019

Enzymes are nature’s catalyst of choice for the highly selective and efficient coupling of carbohydrates. Enzymatic sugar coupling is a competitive technology for industrial glycosylation reactions, since chemical synthetic routes require exten...

  • Article
  • Open Access
1,166 Views
16 Pages

Non-Target Metabolomics Reveals Changes in Metabolite Profiles in Distant Hybrid Incompatibility Between Paeonia sect. Moutan and P. lactiflora

  • Wenqing Jia,
  • Yingyue Yu,
  • Zhaorong Mi,
  • Yan Zhang,
  • Guodong Zhao,
  • Yingzi Guo,
  • Zheng Wang,
  • Erqiang Wang and
  • Songlin He

3 May 2025

Peonies are globally renowned ornamental plants, and distant hybridization is a key method for breeding new varieties, though it often faces cross-incompatibility challenges. The metabolic mechanisms underlying the crossing barrier between tree peony...

  • Article
  • Open Access
8 Citations
3,016 Views
19 Pages

4 November 2022

The stem and leaves of fresh corn plants can be used as green silage or can be converted to biofuels, and the stalk sugar content and yield directly determine the application value of fresh corn. To identify the genetic variations and candidate genes...

  • Article
  • Open Access
37 Citations
9,047 Views
13 Pages

Exploring the Glycans of Euglena gracilis

  • Ellis C. O’Neill,
  • Sakonwan Kuhaudomlarp,
  • Martin Rejzek,
  • Jonatan U. Fangel,
  • Kathirvel Alagesan,
  • Daniel Kolarich,
  • William G. T. Willats and
  • Robert A. Field

15 December 2017

Euglena gracilis is an alga of great biotechnological interest and extensive metabolic capacity, able to make high levels of bioactive compounds, such as polyunsaturated fatty acids, vitamins and β-glucan. Previous work has shown that Euglena express...

  • Feature Paper
  • Review
  • Open Access
38 Citations
8,352 Views
23 Pages

Chloroviruses Have a Sweet Tooth

  • James L. Van Etten,
  • Irina Agarkova,
  • David D. Dunigan,
  • Michela Tonetti,
  • Christina De Castro and
  • Garry A. Duncan

22 April 2017

Chloroviruses are large double-stranded DNA (dsDNA) viruses that infect certain isolates of chlorella-like green algae. They contain up to approximately 400 protein-encoding genes and 16 transfer RNA (tRNA) genes. This review summarizes the unexpecte...

  • Article
  • Open Access
10 Citations
6,309 Views
10 Pages

Targeted Next-Generation Sequencing Identification of Mutations in Disease Resistance Gene Analogs (RGAs) in Wild and Cultivated Beets

  • Piergiorgio Stevanato,
  • Chiara Broccanello,
  • Luca Pajola,
  • Filippo Biscarini,
  • Chris Richards,
  • Lee Panella,
  • Mahdi Hassani,
  • Elide Formentin,
  • Claudia Chiodi and
  • Bahram Heidari
  • + 1 author

11 October 2017

Resistance gene analogs (RGAs) were searched bioinformatically in the sugar beet (Beta vulgaris L.) genome as potential candidates for improving resistance against different diseases. In the present study, Ion Torrent sequencing technology was used t...

  • Feature Paper
  • Review
  • Open Access
5 Citations
8,756 Views
38 Pages

15 August 2024

The solute carrier family 35 (SLC35) comprises multiple members of transporters, including a group of proteins known as nucleotide sugar transporters (NSTs), an adenosine triphosphate (ATP) transporter, 3′-phosphoadenosine 5′-phosphosulfa...

  • Review
  • Open Access
294 Views
24 Pages

Type 2 diabetes mellitus (T2D) affects hundreds of millions worldwide, with recent estimates indicating approximately 589 million adults living with diabetes, most with type 2 disease. Beyond classical insulin signaling pathways, increasing evidence...

  • Article
  • Open Access
76 Citations
12,634 Views
31 Pages

Towards Controlling the Glycoform: A Model Framework Linking Extracellular Metabolites to Antibody Glycosylation

  • Philip M. Jedrzejewski,
  • Ioscani Jimenez Del Val,
  • Antony Constantinou,
  • Anne Dell,
  • Stuart M. Haslam,
  • Karen M. Polizzi and
  • Cleo Kontoravdi

14 March 2014

Glycoproteins represent the largest group of the growing number of biologically-derived medicines. The associated glycan structures and their distribution are known to have a large impact on pharmacokinetics. A modelling framework was developed to pr...

  • Review
  • Open Access
15 Citations
6,018 Views
20 Pages

Glycobiology of Human Fungal Pathogens: New Avenues for Drug Development

  • Danielle J. Lee,
  • Holly O’Donnell,
  • Françoise H. Routier,
  • Joe Tiralongo and
  • Thomas Haselhorst

30 October 2019

Invasive fungal infections (IFI) are an increasing threat to the developing world, with fungal spores being ubiquitous and inhaled every day. Some fungal species are commensal organisms that are part of the normal human microbiota, and, as such, do n...

  • Feature Paper
  • Article
  • Open Access
7 Citations
4,636 Views
21 Pages

Enzymatic Cascades for Tailored 13C6 and 15N Enriched Human Milk Oligosaccharides

  • Thomas Fischöder,
  • Samanta Cajic,
  • Valerian Grote,
  • Raphael Heinzler,
  • Udo Reichl,
  • Matthias Franzreb,
  • Erdmann Rapp and
  • Lothar Elling

25 September 2019

Several health benefits, associated with human milk oligosaccharides (HMOS), have been revealed in the last decades. Further progress, however, requires not only the establishment of a simple “routine” method for absolute quantification o...

  • Article
  • Open Access
6 Citations
3,571 Views
12 Pages

26 April 2024

Obesity’s variability is significantly influenced by the interplay between genetic and environmental factors. We aimed to integrate the combined impact of genetic risk score (GRSBMI) with physical activity (PA), sugar-sweetened beverages (SSB),...

  • Article
  • Open Access
6 Citations
4,279 Views
14 Pages

N-Glycosylation in Piroplasmids: Diversity within Simplicity

  • Monica Florin-Christensen,
  • Anabel E. Rodriguez,
  • Carlos E. Suárez,
  • Massaro W. Ueti,
  • Fernando O. Delgado,
  • Ignacio Echaide and
  • Leonhard Schnittger

N-glycosylation has remained mostly unexplored in Piroplasmida, an order of tick-transmitted pathogens of veterinary and medical relevance. Analysis of 11 piroplasmid genomes revealed three distinct scenarios regarding N-glycosylation: Babesia sensu...

  • Article
  • Open Access
11 Citations
4,262 Views
14 Pages

Single Nucleotide Polymorphisms in Close Proximity to the Fibroblast Growth Factor 21 (FGF21) Gene Found to Be Associated with Sugar Intake in a Swedish Population

  • Suzanne Janzi,
  • Esther González-Padilla,
  • Kevin Najafi,
  • Stina Ramne,
  • Emma Ahlqvist,
  • Yan Borné and
  • Emily Sonestedt

5 November 2021

Hereditary mechanisms are partially responsible for individual differences in sensitivity to and the preference for sweet taste. The primary aim of this study was to examine the associations between 10 genetic variants and the intake of total sugar,...

  • Review
  • Open Access
6 Citations
7,504 Views
44 Pages

Synthesis of Fluorinated Nucleosides/Nucleotides and Their Antiviral Properties

  • Yugandhar Kothapalli,
  • Ransom A. Jones,
  • Chung K. Chu and
  • Uma S. Singh

The FDA has approved several drugs based on the fluorinated nucleoside pharmacophore, and numerous drugs are currently in clinical trials. Fluorine-containing nucleos(t)ides offer significant antiviral and anticancer activity. The insertion of a fluo...

  • Article
  • Open Access
7 Citations
5,434 Views
23 Pages

Two Homologous Enzymes of the GalU Family in Rhodococcus opacus 1CP—RoGalU1 and RoGalU2

  • Antje Kumpf,
  • Anett Partzsch,
  • André Pollender,
  • Isabel Bento and
  • Dirk Tischler

19 November 2019

Uridine-5’-diphosphate (UDP)-glucose is reported as one of the most versatile building blocks within the metabolism of pro- and eukaryotes. The activated sugar moiety is formed by the enzyme UDP-glucose pyrophosphorylase (GalU). Two homologous...

  • Review
  • Open Access
160 Citations
14,292 Views
26 Pages

Diatom-Specific Oligosaccharide and Polysaccharide Structures Help to Unravel Biosynthetic Capabilities in Diatoms

  • Bruno Gügi,
  • Tinaïg Le Costaouec,
  • Carole Burel,
  • Patrice Lerouge,
  • William Helbert and
  • Muriel Bardor

18 September 2015

Diatoms are marine organisms that represent one of the most important sources of biomass in the ocean, accounting for about 40% of marine primary production, and in the biosphere, contributing up to 20% of global CO2 fixation. There has been a recent...

  • Article
  • Open Access
4 Citations
2,691 Views
12 Pages

Novel Insights into the Effects of Genetic Variants on Serum Urate Response to an Acute Fructose Challenge: A Pilot Study

  • Xinruo Zhang,
  • Baba B. Mass,
  • Valentina Talevi,
  • Ruixue Hou,
  • Kari E. North and
  • Venkata Saroja Voruganti

28 September 2022

Studies have shown that genetic variations can influence metabolic response to nutrient intake, and that diets rich in fructose contribute to hyperuricemia. In this pilot study, our aim was to determine the variability of serum urate in response to a...

  • Article
  • Open Access
8 Citations
2,812 Views
23 Pages

17 October 2022

The reconfiguration of the primary metabolism is essential in plant–pathogen interactions. We compared the local metabolic responses of cucumber leaves inoculated with Pseudomonas syringae pv lachrymans (Psl) with those in non-inoculated system...

  • Article
  • Open Access
7 Citations
2,311 Views
10 Pages

Identification of Quantitative Trait Loci (QTL) for Sucrose and Protein Content in Soybean Seed

  • Daniel R. Jamison,
  • Pengyin Chen,
  • Navam S. Hettiarachchy,
  • David M. Miller and
  • Ehsan Shakiba

27 February 2024

Protein and sugar content are important seed quality traits in soybean because they improve the value and sustainability of soy food and feed products. Thus, identifying Quantitative Trait Loci (QTL) for soybean seed protein and sugar content can ben...

  • Article
  • Open Access
3 Citations
4,017 Views
19 Pages

Identification and Characterization of a Novel N- and O-Glycosyltransferase from Saccharopolyspora erythraea

  • Fabienne Gutacker,
  • Yvonne-Isolde Schmidt-Bohli,
  • Tina Strobel,
  • Danye Qiu,
  • Henning Jessen,
  • Thomas Paululat and
  • Andreas Bechthold

27 July 2020

Glycosyltransferases are important enzymes which are often used as tools to generate novel natural products. In this study, we describe the identification and characterization of an inverting N- and O-glycosyltransferase from Saccharopolyspora erythr...

  • Communication
  • Open Access
30 Citations
10,031 Views
12 Pages

Study on Suitability of KOD DNA Polymerase for Enzymatic Production of Artificial Nucleic Acids Using Base/Sugar Modified Nucleoside Triphosphates

  • Masayasu Kuwahara,
  • Yuuki Takano,
  • Yuuya Kasahara,
  • Hiroki Nara,
  • Hiroaki Ozaki,
  • Hiroaki Sawai,
  • Akio Sugiyama and
  • Satoshi Obika

12 November 2010

Recently, KOD and its related DNA polymerases have been used for preparing various modified nucleic acids, including not only base-modified nucleic acids, but also sugar-modified ones, such as bridged/locked nucleic acid (BNA/LNA) which would be prom...

  • Review
  • Open Access
4 Citations
4,167 Views
30 Pages

Convertible and Constrained Nucleotides: The 2’-Deoxyribose 5’-C-Functionalization Approach, a French Touch

  • Crystalle Chardet,
  • Corinne Payrastre,
  • Béatrice Gerland and
  • Jean-Marc Escudier

30 September 2021

Many strategies have been developed to modulate the biological or biotechnical properties of oligonucleotides by introducing new chemical functionalities or by enhancing their affinity and specificity while restricting their conformational space. Amo...

  • Article
  • Open Access
6 Citations
3,087 Views
16 Pages

The Flavor Characteristics and Metabolites of Three Commercial Dried Jujube Cultivars

  • Yuyao Jia,
  • Chao Wang,
  • Ying Zhang,
  • Wenkai Deng,
  • Yicai Ma,
  • Juanfang Ma and
  • Gang Han

14 April 2024

To understand the flavor and metabolite differences between the three commercial dried jujube cultivars Huizao (HZ), Hamazao 1 (HMZ), and Qiyuexian (QYX), their soluble sugars, organic acids, volatiles, and metabolites were systematically investigate...

  • Article
  • Open Access
635 Views
13 Pages

18 October 2025

Comets are chemically rich and thermally extreme, spanning surface temperatures from ~50 K in the Oort Cloud to >1000 K for sungrazing bodies. These conditions may support key steps of prebiotic chemistry, including the synthesis of nucleic acid p...

  • Article
  • Open Access
5 Citations
2,957 Views
13 Pages

Genome-Wide Detection of Quantitative Trait Loci and Prediction of Candidate Genes for Seed Sugar Composition in Early Mature Soybean

  • Li Hu,
  • Xianzhi Wang,
  • Jiaoping Zhang,
  • Liliana Florez-Palacios,
  • Qijian Song and
  • Guo-Liang Jiang

5 February 2023

Seed sugar composition, mainly including fructose, glucose, sucrose, raffinose, and stachyose, is an important indicator of soybean [Glycine max (L.) Merr.] seed quality. However, research on soybean sugar composition is limited. To better understand...

  • Article
  • Open Access
2 Citations
2,975 Views
19 Pages

Altered Nucleotide Insertion Mechanisms of Disease-Associated TERT Variants

  • Griffin A. Welfer,
  • Veniamin A. Borin,
  • Luis M. Cortez,
  • Patricia L. Opresko,
  • Pratul K. Agarwal and
  • Bret D. Freudenthal

21 January 2023

Telomere biology disorders (TBDs) are a spectrum of diseases that arise from mutations in genes responsible for maintaining telomere integrity. Human telomerase reverse transcriptase (hTERT) adds nucleotides to chromosome ends and is frequently mutat...

  • Article
  • Open Access
2,750 Views
17 Pages

21 September 2024

Root morphology, an important determinant of nutrient absorption and plant growth, can adapt to various growth environments to promote survival. Solution flow under hydroponic conditions provides a mechanical stimulus, triggering adaptive biological...

  • Article
  • Open Access
16 Citations
5,665 Views
16 Pages

Transcriptomic Analysis for Indica and Japonica Rice Varieties under Aluminum Toxicity

  • Peng Zhang,
  • Zhuoran Ding,
  • Zhengzheng Zhong and
  • Hanhua Tong

25 February 2019

Aluminum (Al) at high concentrations inhibits root growth, damage root systems, and causes significant reductions in rice yields. Indica and Japonica rice have been cultivated in distinctly different ecological environments with different soil acidit...

  • Article
  • Open Access
25 Citations
5,632 Views
18 Pages

31 October 2017

Biological RNA is a uniform polymer in three senses: it uses nucleotides of a single chirality; it uses only ribose sugars and four nucleobases rather than a mixture of other sugars and bases; and it uses only 3′-5′ bonds rather than a mixture of dif...

  • Article
  • Open Access
4 Citations
6,231 Views
16 Pages

Nucleobase but not Sugar Fidelity is Maintained in the Sabin I RNA-Dependent RNA Polymerase

  • Xinran Liu,
  • Derek M. Musser,
  • Cheri A. Lee,
  • Xiaorong Yang,
  • Jamie J. Arnold,
  • Craig E. Cameron and
  • David D. Boehr

26 October 2015

The Sabin I poliovirus live, attenuated vaccine strain encodes for four amino acid changes (i.e., D53N, Y73H, K250E, and T362I) in the RNA-dependent RNA polymerase (RdRp). We have previously shown that the T362I substitution leads to a lower fidelity...

  • Article
  • Open Access
409 Views
13 Pages

1 December 2025

Microorganism employs sophisticated strategies to adapt to acidic environments, with transcription factors occupying pivotal nodes within their hierarchical regulatory networks. In this study, we performed functional characterization of the AraR tran...

  • Article
  • Open Access
2 Citations
1,109 Views
17 Pages

The median lethal concentration value of alkalinity tolerance for Macrobrachium nipponense over 96 h is only 14.42 mmol/L with a safety value of 4.71 mmol/L, which is insufficient to perform the aquaculture program in a water environment with high al...

  • Article
  • Open Access
1,009 Views
18 Pages

Macrobrachium nipponense is an important economic freshwater species in China. Previous research has found that M. nipponense can reproduce under salinity conditions of 10 parts per thousand (ppt) and exhibits a strong ability to adapt to salinity ch...

  • Article
  • Open Access
5 Citations
2,440 Views
13 Pages

30 November 2022

Chinese water chestnut (CWC) is popular among consumers due to its unique flavor and crisp and sweet taste. Thus far, the key substances affecting the taste compound of CWC are still unclear. In this study, we used UPLC-MS/MS and an electronic tongue...

  • Article
  • Open Access
4 Citations
2,890 Views
16 Pages

A Genome-Wide Association Study Reveals the Genetic Mechanisms of Nutrient Accumulation in Spinach

  • Ni Ji,
  • Zhiyuan Liu,
  • Hongbing She,
  • Zhaosheng Xu,
  • Helong Zhang,
  • Zhengwu Fang and
  • Wei Qian

28 January 2024

Spinach is a significant source of vitamins, minerals, and antioxidants. These nutrients make it delicious and beneficial for human health. However, the genetic mechanism underlying the accumulation of nutrients in spinach remains unclear. In this st...

  • Article
  • Open Access
28 Citations
4,376 Views
40 Pages

Integrated Transcriptomic and Metabolomics Analyses Reveal Molecular Responses to Cold Stress in Coconut (Cocos nucifera L.) Seedlings

  • Lilan Lu,
  • Weibo Yang,
  • Zhiguo Dong,
  • Longxiang Tang,
  • Yingying Liu,
  • Shuyun Xie and
  • Yaodong Yang

26 September 2023

Coconut is an important tropical and subtropical fruit and oil crop severely affected by cold temperature, limiting its distribution and application. Thus, studying its low-temperature reaction mechanism is required to expand its cultivation range. W...

  • Article
  • Open Access
1 Citations
1,020 Views
19 Pages

Dynamic Variation of Secondary Metabolites from Polygonatum cyrtonema Hua Rhizomes During Repeated Steaming–Drying Processes

  • Shuzhen Wang,
  • Feng He,
  • Ruibin Hu,
  • Xuchun Wan,
  • Wei Wu,
  • Lei Zhang,
  • Chi-Tang Ho and
  • Shiming Li

25 April 2025

Polygonati Rhizoma, widely used as a traditional functional food and herbal medicine, is well known for its health-promoting activities after the process of “nine cycles of steaming-drying”. Based on UPLC-MS/MS, 1369 secondary metabolites...

  • Article
  • Open Access
6 Citations
4,937 Views
15 Pages

Fluorescent Nanoparticles Synthesized from DNA, RNA, and Nucleotides

  • Maofei Wang,
  • Masaki Tsukamoto,
  • Vladimir G. Sergeyev and
  • Anatoly Zinchenko

31 August 2021

Ubiquitous on Earth, DNA and other nucleic acids are being increasingly considered as promising biomass resources. Due to their unique chemical structure, which is different from that of more common carbohydrate biomass polymers, materials based on n...

  • Article
  • Open Access
9 Citations
4,694 Views
24 Pages

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

  • Federica Conte,
  • Angel Ashikov,
  • Rachel Mijdam,
  • Eline G. P. van de Ven,
  • Monique van Scherpenzeel,
  • Raisa Veizaj,
  • Seyed P. Mahalleh-Yousefi,
  • Merel A. Post,
  • Karin Huijben and
  • Dirk J. Lefeber
  • + 7 authors

Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder c...

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