Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG

Congenital Disorders of Glycosylation (CDG) are multisystemic metabolic disorders showing highly heterogeneous clinical presentation, molecular etiology, and laboratory results. Here, we present different transferrin isoform patterns (obtained by isoelectric focusing) from three female patients harb...

Full description

Bibliographic Details
Published in:	Biomolecules
Main Authors:	Karolina Mitusińska, Artur Góra, Anna Bogdańska, Agnieszka Rożdżyńska-Świątkowska, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Format:	Article
Language:	English
Published:	MDPI AG 2022-03-01
Subjects:	ALG13-CDG c.320A>G variant (p.Asn107Ser) congenital disorder of glycosylation transferrin isoelectric focusing human Alg13 modeling
Online Access:	https://www.mdpi.com/2218-273X/12/3/398

Similar Items

The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant
by: Justyna Paprocka, et al.
Published: (2021-03-01)

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation
by: Rebecca Finnegan, et al.
Published: (2024-09-01)

Propagation and identification of Alg13 mutant epilepsy mice
by: GAO Peng, et al.
Published: (2022-11-01)

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
by: Carlos Alberto González-Domínguez, et al.
Published: (2021-09-01)

Normal transferrin glycosylation does not rule out severe ALG1 deficiency
by: Inez Bosnyak, et al.
Published: (2024-05-01)

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis
by: Rebeka Kodríková, et al.
Published: (2025-12-01)

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
by: María Eugenia de laMorena‐Barrio, et al.
Published: (2020-08-01)

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review
by: Yan Xue, et al.
Published: (2023-08-01)

Pediatric Anesthetic Management of a Patient With an ALG‐13 Gene Mutation, a Rare Congenital Disorder of Glycosylation
by: Esha Thakkar, et al.
Published: (2025-01-01)

An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
by: Sandrine Vuillaumier-Barrot, et al.
Published: (2025-02-01)

In vitro cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient
by: Marisa Angelica Cubilla, et al.
Published: (2025-10-01)

Alge kao izvor bjelančevina u hranidbi domaćih životinja
by: Mihaela Oroz, et al.
Published: (2025-01-01)

Alge Koseškega bajerja in Sotelskega jezera, dveh evtrofnih jezer v Sloveniji
by: Aleksandra Krivograd Klemenčič
Published: (2002-12-01)

Alge v velikem ali priobalnem jezeru v Fiesi, Slovenija
by: Aleksandra Krivograd Klemenčič
Published: (2003-06-01)

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
by: Ivan Martínez Duncker, et al.
Published: (2024-05-01)

ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer through Increasing Interaction of α1,3-mannosylated uPAR and ADAM8
by: Xinyuan Cui, et al.
Published: (2022-10-01)

Razširjenost kremenastih alg v izvirih na območju Julijskih Alp (SZ Slovenija)
by: Tanja Menegalija, et al.
Published: (2008-06-01)

Identification of ALG3 as a potential prognostic biomarker in lung adenocarcinoma
by: Yinjiao Yuan, et al.
Published: (2023-07-01)

Clinical and Molecular Characterization of ALG1-CDG
by: Radhika Dhamija, et al.
Published: (2016-04-01)

Symbolische Grenzziehungen und Stigma-Management von ALG II-Bezieher*innen
by: Sebastian Jürss
Published: (2024-01-01)

Pseudomonas aeruginosa mucinous phenotypes and algUmucABD operon mutant characteristics obtained from inpatients with bronchiectasis and their correlation with acute aggravation
by: Yuxue Tan, et al.
Published: (2024-07-01)

ALG3 contributes to stemness and radioresistance through regulating glycosylation of TGF-β receptor II in breast cancer
by: Xiaoqing Sun, et al.
Published: (2021-04-01)

Vrstna sestava aerofitskih alg na izbranih lokacijah v Sloveniji nakazuje dinamične spremembe v združbi
by: Aleksandra Krivograd Klemenčič, et al.
Published: (2008-12-01)

ALG1-congenital disorder of glycosylation: report of clinical and genetic features of three new cases and review of literature
by: Faeze Khaghani, et al.
Published: (2025-05-01)

The N-mannosyltransferase MoAlg9 plays important roles in the development and pathogenicity of Magnaporthe oryzae
by: Shulin Zhang, et al.
Published: (2025-06-01)

Expression of the translocator protein (TSPO) from Pseudomonas fluorescens Pfo-1 requires the stress regulatory sigma factors AlgU and RpoH
by: Charlène eLeneveu-Jenvrin, et al.
Published: (2015-09-01)

Kopenske alge na betonskem zidu, kamnitem zidu, apnenčasti skali in deblu lipe (Tilia platyphyllos) v Sloveniji
by: Aleksandra Krivograd Klemenčič
Published: (2002-12-01)

Kurtboğazı Baraj Gölünün Mavi-Yeşil Alg Cyanobacteria Biyomasının Tahminine Yönelik Modeller
by: Nilsun Demır, et al.
Published: (2000-01-01)

Purification and Characterization of a Novel Alginate Lyase from the Marine Bacterium Bacillus sp. Alg07
by: Peng Chen, et al.
Published: (2018-03-01)

Multiple virulence factors regulated by AlgU contribute to the pathogenicity of Pseudomonas savastanoi pv. glycinea in soybean
by: Viet Tru Nguyen, et al.
Published: (2021-10-01)

Sport i rekreacja przy wybranych akwenach objętych zakwitami alg i sinic na przykładzie wybranych zbiorników Polski
by: Justyna Pacelt, et al.
Published: (2015-09-01)

Pseudomonas aeruginosa Nonphosphorylated AlgR Induces Ribonucleotide Reductase Expression under Oxidative Stress Infectious Conditions
by: Alba Rubio-Canalejas, et al.
Published: (2023-04-01)

Smart foliar fertilizer based on Zn-Alg-CaCO₃ microparticles improves Aquaponic tomato cultivation
by: Davide Frassine, et al.
Published: (2025-05-01)

ALG3 as a prognostic biomarker and mediator of PD-1 blockade resistance in hepatocellular carcinoma
by: Pengju Tang, et al.
Published: (2025-05-01)

The trap of genetic tag: The importance of pathogenicity prediction tools in the correct interpretation of variants of uncertain significance in the era of high‐throughput genome sequencing
by: Francesco Pellegrino
Published: (2023-05-01)

AG73-GelMA/AlgMA hydrogels provide a stable microenvironment for the generation of pancreatic progenitor organoids
by: Jian Wan, et al.
Published: (2025-02-01)

Improving the optical, photoluminescence, and electrical properties of PEO/NaAlg-WO3 nanocomposites for optoelectronic and nanodielectric applications
by: Samar J. Almehmadi, et al.
Published: (2023-09-01)

Asymptotics of Smallest Component Sizes in Decomposable Combinatorial Structures of Alg-Log Type
by: Li Dong, et al.
Published: (2010-01-01)

Role of the sigma factor AlgU in regulating growth, virulence, motility, exopolysaccharide production, and environmental stress adaptation of Pseudomonas syringae pv. actinidiae QSY6
by: Yiju Zhang, et al.
Published: (2024-05-01)

The circular RNA circ_0001742 regulates colorectal carcinoma proliferation and migration via the MicroRNA-431-5p/ALG8 axis
by: Jiahao Huang, et al.
Published: (2024-08-01)