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Items: 1 to 20 of 319

1.
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG
Karolina Mitusińska, Artur Góra, Anna Bogdańska, Agnieszka Rożdżyńska-Świątkowska, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Biomolecules. 2022 Mar; 12(3): 398. Published online 2022 Mar 4. doi: 10.3390/biom12030398
PMCID:
PMC8945535
AbstractArticlePDF–3.2M
2.
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant
Justyna Paprocka, Aleksandra Jezela-Stanek, Łukasz Boguszewicz, Maria Sokół, Patryk Lipiński, Ewa Jamroz, Ewa Emich-Widera, Anna Tylki-Szymańska
Children (Basel) 2021 Mar; 8(3): 251. Published online 2021 Mar 23. doi: 10.3390/children8030251
PMCID:
PMC8004727
AbstractArticlePDF–1.0M
3.
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation
Wienke H. Galama, Sandra L. J. Verhaagen – van den Akker, Dirk J. Lefeber, Ilse Feenstra, Aad Verrips
JIMD Rep. 2018; 40: 11–16. Published online 2017 Sep 9. doi: 10.1007/8904_2017_53
PMCID:
PMC6122024
AbstractArticlePDF–186K
4.
Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model
Maryam Fazelzadeh Haghighi, Hossein Jafari Khamirani, Jafar Fallahi, Ali Arabi Monfared, Korosh Ashrafi Dehkordi, Seyed Mohammad Bagher Tabei
Mol Genet Genomic Med. 2024 May; 12(5): e2445. Published online 2024 May 9. doi: 10.1002/mgg3.2445
PMCID:
PMC11080630
AbstractArticlePDF–5.4M
5.
Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2
Shiqi Fan, Huanhuan Wu, Rongrong Wang, Qian Chen, Xue Zhang
Mol Genet Genomic Med. 2024 Apr; 12(4): e2422. Published online 2024 Apr 15. doi: 10.1002/mgg3.2422
PMCID:
PMC11019143
AbstractArticlePDF–3.0M
6.
Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes
Holly J Thorpe, Katie G Owings, Miriam C Aziz, Madelyn Haller, Emily Coelho, Clement Y Chow
G3 (Bethesda) 2024 Mar; 14(3): jkad291. Published online 2023 Dec 20. doi: 10.1093/g3journal/jkad291
PMCID:
PMC10917494
AbstractArticlePDF–3.6M
7.
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni
Orphanet J Rare Dis. 2024; 19: 39. Published online 2024 Feb 2. doi: 10.1186/s13023-024-03027-x
PMCID:
PMC10837865
AbstractArticlePDF–1.2M
8.
Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation
Qi Tian, Li Shu, Chuqiang Shu, Hui Xi, Na Ma, Xiao Mao, Hua Wang
Eur J Hum Genet. 2023 Dec; 31(12): 1455–1457. Published online 2022 May 31. doi: 10.1038/s41431-022-01125-7
PMCID:
PMC10689725
AbstractArticlePDF–697K
9.
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review
Yan Xue, Yiran Zhao, Bo Wu, Jianbo Shu, Dandan Yan, Dong Li, Xiaoli Yu, Chunquan Cai
Mol Genet Genomic Med. 2023 Aug; 11(8): e2197. Published online 2023 May 19. doi: 10.1002/mgg3.2197
PMCID:
PMC10422073
AbstractArticlePDF–4.9M
10.
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation
Shawn Tahata, Jody Weckwerth, Anna Ligezka, Miao He, Hee Eun Lee, Julie Heimbach, Samar H Ibrahim, Tamas Kozicz, Katryn Furuya, Eva Morava
Mol Genet Metab. Author manuscript; available in PMC 2024 Apr 1.
Published in final edited form as: Mol Genet Metab. 2023 Apr; 138(4): 107559. Published online 2023 Mar 17. doi: 10.1016/j.ymgme.2023.107559
PMCID:
PMC10164344
AbstractArticlePDF–615K
11.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L. Goldner, Bobby G. Ng, Peter Witters, Amal Aqul, Frances Velez-Bartolomei, Gregory M. Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Lourenco, Sheri A Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M. Wang, Kimiyo M. Raymond, Matthew J Schultz, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson, Miao He
J Inherit Metab Dis. Author manuscript; available in PMC 2023 Mar 28.
Published in final edited form as: J Inherit Metab Dis. 2023 Mar; 46(2): 300–312. Published online 2023 Jan 29. doi: 10.1002/jimd.12589
PMCID:
PMC10047170
AbstractArticlePDF–743K
12.
Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability
Fan Yu, Li Lin, Jingmiao Sun, Jicheng Pan, Yixin Liao, Yunfan Pan, Guannan Bai, Liangjian Ma, Jianhua Mao, Lidan Hu
Oxid Med Cell Longev. 2023; 2023: 5964723. Published online 2023 Jan 25. doi: 10.1155/2023/5964723
PMCID:
PMC9891822
AbstractArticlePDF–5.4M
13.
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira
Orphanet J Rare Dis. 2022; 17: 398. Published online 2022 Oct 29. doi: 10.1186/s13023-022-02551-y
PMCID:
PMC9618201
AbstractArticlePDF–2.4M
14.
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
Sci Rep. 2022; 12: 17079. Published online 2022 Oct 12. doi: 10.1038/s41598-022-21751-x
PMCID:
PMC9556533
AbstractArticlePDF–4.4M
15.
A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report
E. Lebredonchel, A. Riquet, D. Neut, F. Broly, G. Matthijs, A. Klein, F. Foulquier
Ital J Pediatr. 2022; 48: 178. Published online 2022 Oct 11. doi: 10.1186/s13052-022-01355-x
PMCID:
PMC9552460
AbstractArticlePDF–1.1M
16.
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1
Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos Eduardo Speck‐Martins, Daniel Rocha de Carvalho, Isabela Maria Pinto Oliveira de Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen Gorman, Stephanie Grunewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber
J Inherit Metab Dis. 2022 Jul; 45(4): 769–781. Published online 2022 Mar 28. doi: 10.1002/jimd.12496
PMCID:
PMC9545396
AbstractArticlePDF–2.8M
17.
A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress
Hans M. Dalton, Raghuvir Viswanatha, Roderick Brathwaite, Jr., Jae Sophia Zuno, Alexys R. Berman, Rebekah Rushforth, Stephanie E. Mohr, Norbert Perrimon, Clement Y. Chow
PLoS Genet. 2022 Sep; 18(9): e1010430. Published online 2022 Sep 27. doi: 10.1371/journal.pgen.1010430
PMCID:
PMC9543880
AbstractArticlePDF–2.5M
18.
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability
Conor W. Mitchell, Ignacy Czajewski, Daan M.F. van Aalten
J Biol Chem. 2022 Sep; 298(9): 102276. Published online 2022 Jul 19. doi: 10.1016/j.jbc.2022.102276
PMCID:
PMC9428853
AbstractArticlePDF–2.0M
19.
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
Matthew P Wilson, Zoé Durin, Özlem Unal, Bobby G Ng, Thomas Marrecau, Liesbeth Keldermans, Erika Souche, Daisy Rymen, Mehmet Gündüz, Gülşen Köse, Luisa Sturiale, Domenico Garozzo, Hudson H Freeze, Jaak Jaeken, François Foulquier, Gert Matthijs
Hum Mol Genet. 2022 Aug 1; 31(15): 2571–2581. Published online 2022 Mar 9. doi: 10.1093/hmg/ddac055
PMCID:
PMC9396942
AbstractArticlePDF–1.6M
20.
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum
Jana Ziburová, Marek Nemčovič, Sergej Šesták, Jana Bellová, Zuzana Pakanová, Barbara Siváková, Anna Šalingová, Claudia Šebová, Mária Ostrožlíková, Dimitra‐Evanthia Lekka, Jana Brucknerová, Ingrid Brucknerová, Martina Skokňová, Alexandra Mc Cullough, Gabriela Hrčková, Anna Hlavatá, Vladimír Bzdúch, Ján Mucha, Peter Baráth
Am J Med Genet A. 2021 Nov; 185(11): 3494–3501. Published online 2021 Sep 1. doi: 10.1002/ajmg.a.62474
PMCID:
PMC9291070
AbstractArticlePDF–1.5M

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