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Items: 1 to 20 of 141

1.
Knockout of the fcsk gene in zebrafish causes neurodevelopmental defects
Zhen-Xing Liu, Ting-Ting Zou, Hui-Hui Liu, Hai-Bo Jia, Xian-Qin Zhang
Zool Res. 2025 Mar 18; 46(2): 313–324. doi: 10.24272/j.issn.2095-8137.2024.229
PMCID:
PMC12000135
ArticlePDF–9.2M
2.
Non-Immune Hydrops Fetalis and Congenital Disorders of Glycosylation: A Systematic Literature Review
Mona M. Makhamreh, Naiga Cottingham, Carlos R. Ferreira, Seth Berger, Huda B. Al-Kouatly
J Inherit Metab Dis. Author manuscript; available in PMC 2025 Mar 11.
Published in final edited form as: J Inherit Metab Dis. 2020 Mar; 43(2): 223–233. Published online 2019 Nov 8. doi: 10.1002/jimd.12162
PMCID:
PMC11894479
ArticlePDF–449K
3.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt, Helena Böhrer-Rabel, Alfonso Caro-Llopis, Trevor Cole, Felix Distelmaier, Patrick Edery, Carlos R. Ferreira, Aleksandra Jezela-Stanek, Bronwyn Kerr, Gerhard Kluger, Peter M. Krawitz, Marius Kuhn, Johannes R. Lemke, Gaetan Lesca, Sally Ann Lynch, Francisco Martinez, Caroline Maxton, Hanna Mierzewska, Sandra Monfort, Joost Nicolai, Carmen Orellana, Deb K. Pal, Rafał Płoski, Oliver W. Quarrell, Monica Rosello, Małgorzata Rydzanicz, Ataf Sabir, Robert Śmigiel, Alexander P.A. Stegmann, Helen Stewart, Constance Stumpel, Elżbieta Szczepanik, Andreas Tzschach, Lynne Wolfe, Jenny C. Taylor, Yoshiko Murakami, Taroh Kinoshita, Allan Bayat, Usha Kini
Genet Med. Author manuscript; available in PMC 2025 Feb 3.
Published in final edited form as: Genet Med. 2023 Jan; 25(1): 37–48. Published online 2022 Nov 2. doi: 10.1016/j.gim.2022.09.007
PMCID:
PMC11790076
ArticlePDF–410K
4.
Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish
Linxue Meng, Zhixu Fang, Li Jiang, Yinglan Zheng, Siqi Hong, Yu Deng, Lingling Xie
Orphanet J Rare Dis. 2025; 20: 46. Published online 2025 Jan 31. doi: 10.1186/s13023-025-03557-y
PMCID:
PMC11786438
ArticlePDF–4.7M
5.
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, Caterina Zanus, Elisa Paccagnella, Irene Bruno, Erica Valencic, Anna Morgan, Alberto Tommasini, Christel Thauvin, Allan Bayat, Giorgia Girotto, Luciana Musante
Biomolecules. 2024 Dec; 14(12): 1626. Published online 2024 Dec 18. doi: 10.3390/biom14121626
PMCID:
PMC11727550
ArticlePDF–3.5M
6.
SLC10A7 regulates O-GalNAc glycosylation and Ca2+ homeostasis in the secretory pathway: insights into SLC10A7-CDG
Zoé Durin, Aurore Layotte, Willy Morelle, Marine Houdou, Antoine Folcher, Dominique Legrand, Dirk Lefeber, Natalia Prevarskaya, Julia Von Blume, Valérie Cormier-Daire, François Foulquier
Cell Mol Life Sci. 2025 Dec; 82(1): 40. Published online 2025 Jan 8. doi: 10.1007/s00018-024-05551-2
PMCID:
PMC11711720
ArticlePDF–4.4M
7.
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities
Amée M. Buziau, Dirk J. Lefeber, D. Cassiman, M. Estela Rubio‐Gozalbo, Hanneke Kwast, Dean R. Tolan, Casper G. Schalkwijk, Martijn C. G. J. Brouwers
J Inherit Metab Dis. 2025 Jan; 48(1): e12836. Published online 2024 Dec 27. doi: 10.1002/jimd.12836
PMCID:
PMC11672228
ArticlePDF–689K
8.
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG)
Tara Weixel, Dee Adedipe, Glennis Muldoon, Christina Lam, Donna Krasnewich, Audrey Thurm, Lynne Wolfe
J Inherit Metab Dis. 2025 Jan; 48(1): e12782. Published online 2024 Aug 6. doi: 10.1002/jimd.12782
PMCID:
PMC11670447
ArticlePDF–1.3M
9.
Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency
Ailing Du, Kun Yang, Xuntao Zhou, Lingzhi Ren, Nan Liu, Chen Zhou, Jialing Liang, Nan Yan, Guangping Gao, Dan Wang
JCI Insight. 2024 Oct 8; 9(19): e183189. Published online 2024 Oct 8. doi: 10.1172/jci.insight.183189
PMCID:
PMC11466192
ArticlePDF–2.8M
10.
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation
Rebecca Finnegan, Mary O'Regan, Máire White, Gianpiero L. Cavalleri, Norman Delanty, Katherine A. Benson, Marie T. Greally
Mol Genet Genomic Med. 2024 Sep; 12(9): e70010. Published online 2024 Sep 23. doi: 10.1002/mgg3.70010
PMCID:
PMC11418404
ArticlePDF–289K
11.
Clinical and Biochemical Footprints of Congenital Disorders of Glycosylation: Proposed Nosology
Bobby G. Ng, Hudson H. Freeze, Nastassja Himmelreich, Nenad Blau, Carlos R. Ferreira
Mol Genet Metab. Author manuscript; available in PMC 2024 Jul 16.
Published in final edited form as: Mol Genet Metab. 2024 May; 142(1): 108476. Published online 2024 Apr 10. doi: 10.1016/j.ymgme.2024.108476
PMCID:
PMC11251693
ArticlePDF–1.4M
12.
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
ArticlePDF–3.0M
13.
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases
Ruqaiah Altassan, Michael M. Allers, Diederik De Graef, Rameen Shah, Maaike de Vries, Austin Larson, Emma Glamuzina, Eva Morava
Mol Genet Metab. Author manuscript; available in PMC 2024 Nov 1.
Published in final edited form as: Mol Genet Metab. 2023 Nov; 140(3): 107688. Published online 2023 Aug 23. doi: 10.1016/j.ymgme.2023.107688
PMCID:
PMC10872732
ArticlePDF–876K
14.
Quantitative mapping of the in vivo O-GalNAc glycoproteome in mouse tissues identifies GalNAc-T2 O-glycosites in metabolic disorder
Weiming Yang, E. Tian, Aliona Chernish, Peggy McCluggage, Kruti Dalal, Alexander Lara, Kelly G. Ten Hagen, Lawrence A. Tabak
Proc Natl Acad Sci U S A. 2023 Oct 24; 120(43): e2303703120. Published online 2023 Oct 20. doi: 10.1073/pnas.2303703120
PMCID:
PMC10614836
ArticlePDF–6.1M
15.
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl Inositol deficiency due to a PIGM promoter mutation
Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R. Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S. Shouval, Dana Levinkopf, Batia Weiss, Assaf Arie Barg, Ayman Daka, Ninette Amariglio, May Christine V. Malicdan, William A. Gahl, Yair Anikster
Mol Genet Metab. Author manuscript; available in PMC 2023 Oct 12.
Published in final edited form as: Mol Genet Metab. 2019 Sep-Oct; 128(1-2): 151–161. Published online 2019 Aug 14. doi: 10.1016/j.ymgme.2019.08.003
PMCID:
PMC10569059
ArticlePDF–2.0M
16.
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation
Diederik de Graef, Anna N. Ligezka, Joseph Rezents, Gina L. Mazza, Graeme Preston, Kaitlin Schwartz, Wirginia Krzysciak, Christina Lam, Andrew C Edmondson, Christin Johnsen, Tamas Kozicz, Eva Morava
Mol Genet Metab. Author manuscript; available in PMC 2024 Jun 1.
Published in final edited form as: Mol Genet Metab. 2023 Jun; 139(2): 107606. Published online 2023 May 9. doi: 10.1016/j.ymgme.2023.107606
PMCID:
PMC10530657
ArticlePDF–331K
17.
Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review
Sarah MacKenzie Picker, George Parker, Paul Gissen
Int J Mol Sci. 2023 Sep; 24(17): 13545. Published online 2023 Aug 31. doi: 10.3390/ijms241713545
PMCID:
PMC10487887
ArticlePDF–1.0M
18.
The O-GlcNAc cycling in neurodevelopment and associated diseases
Dawn M. Wenzel, Stephanie Olivier-Van Stichelen
Biochem Soc Trans. Author manuscript; available in PMC 2023 Aug 28.
Published in final edited form as: Biochem Soc Trans. 2022 Dec 16; 50(6): 1693–1702. doi: 10.1042/BST20220539
PMCID:
PMC10462390
ArticlePDF–921K
19.
Tracer metabolomics reveals the role of aldose reductase in glycosylation
Silvia Radenkovic, Anna N. Ligezka, Sneha S. Mokashi, Karen Driesen, Lynn Dukes-Rimsky, Graeme Preston, Luckio F. Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andrew Edmondson, Austin Larson, Matthew Schultz, Pieter Vermeersch, David Cassiman, Peter Witters, Lesa J. Beamer, Tamas Kozicz, Heather Flanagan-Steet, Bart Ghesquière, Eva Morava
Cell Rep Med. 2023 Jun 20; 4(6): 101056. Published online 2023 May 30. doi: 10.1016/j.xcrm.2023.101056
PMCID:
PMC10313913
ArticlePDF–6.1M
20.
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review
Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek
Genes (Basel) 2023 Jun; 14(6): 1208. Published online 2023 May 31. doi: 10.3390/genes14061208
PMCID:
PMC10298423
ArticlePDF–401K

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