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Select item 115830511.

ERBIN and phosphoglucomutase 3 deficiency

Joshua D Milner

Curr Opin Immunol. Author manuscript; available in PMC 2024 Nov 22.

Published in final edited form as: Curr Opin Immunol. 2023 Oct; 84: 102353. Published online 2023 Jun 25. doi: 10.1016/j.coi.2023.102353

PMCID:: PMC11583051

Article PDF–612K

Select item 115511752.

Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia

Irina Arnaoutova, Yvonne Aratyn-Schaus, Lisa Zhang, Michael S. Packer, Hung-Dar Chen, Cheol Lee, Sudeep Gautam, Francine M. Gregoire, Dominique Leboeuf, Steven Boule, Thomas P. Fernandez, Victoria Huang, Lo-I Cheng, Genesis Lung, Brianna Bannister, Jeremy Decker, Thomas Leete, Lan S. Shuang, Caroline Bock, Prachi Kothiyal, Phil Grayson, Ka W. Mok, Jeffrey J. Quinn, Lauren Young, Luis Barrera, Giuseppe Ciaramella, Brian C. Mansfield, Janice Y. Chou

Nat Commun. 2024; 15: 9729. Published online 2024 Nov 10. doi: 10.1038/s41467-024-54108-1

PMCID:: PMC11551175

Article PDF–11M

Select item 114940633.

SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression

Keita Tanigaki, Risako Matsumura, Naoko Sasaki, Yuta Kato, Tsukasa Tamamori, Shunsuke Yamaga, Eriko Nakamura, Akito Sakanaka, Masae Kuboniwa, Michiya Matsusaki, Atsuo Amano, Hiroki Takeuchi

Sci Rep. 2024; 14: 24797. Published online 2024 Oct 22. doi: 10.1038/s41598-024-75524-9

PMCID:: PMC11494063

Article PDF–4.4M

Select item 113520674.

The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis

Kumudesh Mishra, Sahar Sweetat, Saja Baraghithy, Uri Sprecher, Monzer Marisat, Sultan Bastu, Hava Glickstein, Joseph Tam, Hanna Rosenmann, Miguel Weil, Edoardo Malfatti, Or Kakhlon

Biomolecules. 2024 Aug; 14(8): 893. Published online 2024 Jul 24. doi: 10.3390/biom14080893

PMCID:: PMC11352067

Article PDF–4.9M

Select item 111910065.

Direct reprogramming of fibroblasts into functional hepatocytes via CRISPRa activation of endogenous Gata4 and Foxa3

Jiacheng Li, Ruopu Li, Xue Bai, Wenlong Zhang, Yu Nie, Shengshou Hu

Chin Med J (Engl) 2024 Jun 5; 137(11): 1351–1359. Published online 2024 May 9. doi: 10.1097/CM9.0000000000003088

PMCID:: PMC11191006

Article PDF–5.4M

Select item 111886346.

Integrating Clinical Phenotype With Multiomics Analyses of Human Cardiac Tissue Unveils Divergent Metabolic Remodeling in Genotype-Positive and Genotype-Negative Patients With Hypertrophic Cardiomyopathy

Edgar E. Nollet, Maike Schuldt, Vasco Sequeira, Aleksandra Binek, Thang V. Pham, Stephan A.C. Schoonvelde, Mark Jansen, Bauke V. Schomakers, Michel van Weeghel, Fred M. Vaz, Riekelt H. Houtkooper, Jennifer E. Van Eyk, Connie R. Jimenez, Michelle Michels, Kenneth C. Bedi, Jr, Kenneth B. Margulies, Cristobal G. dos Remedios, Diederik W.D. Kuster, Jolanda van der Velden

Circ Genom Precis Med. 2024 Jun; 17(3): e004369. Published online 2024 Jun 10. doi: 10.1161/CIRCGEN.123.004369

PMCID:: PMC11188634

Article PDF–4.0M

Select item 110753167.

A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data

Ao Wang, Jiamei Wu, Xiaohui Yuan, Jianping Liu, Changli Lu

BMC Med Genomics. 2024; 17: 124. Published online 2024 May 6. doi: 10.1186/s12920-024-01888-6

PMCID:: PMC11075316

Article PDF–2.4M

Select item 110718758.

Molecular mechanisms of aberrant neutrophil differentiation in glycogen storage disease type Ib

Sang Wan Sim, Yuyeon Jang, Tae Sub Park, Byung-Chul Park, Young Mok Lee, Hyun Sik Jun

Cell Mol Life Sci. 2022 May; 79(5): 246. Published online 2022 Apr 18. doi: 10.1007/s00018-022-04267-5

PMCID:: PMC11071875

Article PDF–7.5M

Select item 110552819.

An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle

Mackenzie C. Batt, Leila G. Venzor, Keri Gardner, Rachel R. Reith, Kelsey A. Roberts, Nicolas J. Herrera, Anna M. Fuller, Gary A. Sullivan, J. Travis Mulliniks, Matthew L. Spangler, Stephanie J. Valberg, David J. Steffen, Jessica L. Petersen

BMC Genomics. 2024; 25: 417. Published online 2024 Apr 27. doi: 10.1186/s12864-024-10330-1

PMCID:: PMC11055281

Article PDF–2.9M

Select item 1099704010.

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype

Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano

Acta Myol. 2024; 43(1): 21–26. Published online 2024 Feb 21. doi: 10.36185/2532-1900-411

PMCID:: PMC10997040

Article PDF–392K

Select item 1098070911.

Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening

Xuan-Hong To-Mai, Huu-Trung Nguyen, Thanh-Truc Nguyen-Thi, Thuy-Vy Nguyen, My-Nuong Nguyen-Thi, Ke-Quan Thai, Minh-Thi Lai, Tuan-Anh Nguyen

Sci Rep. 2024; 14: 7461. Published online 2024 Mar 29. doi: 10.1038/s41598-024-57513-0

PMCID:: PMC10980709

Article PDF–1.0M

Select item 1094078012.

Anti-Inflammatory Activity of Vacuum Distillate from Panax ginseng Root on LPS-Induced RAW264.7 Cells

Chanwoo Lee, Seul Lee, Young Pyo Jang, Junseong Park

J Microbiol Biotechnol. 2024 Feb 28; 34(2): 262–269. Published online 2024 Jan 14. doi: 10.4014/jmb.2312.12001

PMCID:: PMC10940780

Article PDF–1.4M

Select item 1087464813.

Gene Therapy for Glycogen Storage Diseases

Dwight D. Koeberl, Rebecca L. Koch, Jeong-A Lim, Elizabeth D. Brooks, Benjamin D. Arnson, Baodong Sun, Priya S. Kishnani

J Inherit Metab Dis. Author manuscript; available in PMC 2025 Jan 1.

Published in final edited form as: J Inherit Metab Dis. 2024 Jan; 47(1): 93–118. Published online 2023 Jul 27. doi: 10.1002/jimd.12654

PMCID:: PMC10874648

Article PDF–468K

Select item 1084117114.

Inhibition of Wnt/β-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia

Cheol Lee, Kunal Pratap, Lisa Zhang, Hung Dar Chen, Sudeep Gautam, Irina Arnaoutova, Mahadevan Raghavankutty, Matthew F. Starost, Michael Kahn, Brian C. Mansfield, Janice Y. Chou

Biochim Biophys Acta Mol Basis Dis. Author manuscript; available in PMC 2025 Jan 1.

Published in final edited form as: Biochim Biophys Acta Mol Basis Dis. 2024 Jan; 1870(1): 166874. Published online 2023 Sep 4. doi: 10.1016/j.bbadis.2023.166874

PMCID:: PMC10841171

Article PDF–3.1M

Select item 1079683915.

CRISPR/Cas9-based double strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type Ia

Ananya Samanta, Nelson George, Irina Arnaoutova, Hung-Dar Chen, Brian C. Mansfield, Christopher Hart, Troy Carlo, Janice Y. Chou

J Inherit Metab Dis. Author manuscript; available in PMC 2024 Nov 1.

Published in final edited form as: J Inherit Metab Dis. 2023 Nov; 46(6): 1147–1158. Published online 2023 Aug 18. doi: 10.1002/jimd.12660

PMCID:: PMC10796839

Article PDF–956K

Select item 1078670216.

A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III

Antoine Gardin, Jérémy Rouillon, Valle Montalvo-Romeral, Lucille Rossiaud, Patrice Vidal, Romain Launay, Mallaury Vie, Youssef Krimi Benchekroun, Jérémie Cosette, Bérangère Bertin, Tiziana La Bella, Guillaume Dubreuil, Justine Nozi, Louisa Jauze, Romain Fragnoud, Nathalie Daniele, Laetitia Van Wittenberghe, Jérémy Esque, Isabelle André, Xavier Nissan, Lucile Hoch, Giuseppe Ronzitti

J Clin Invest. 2024 Jan 16; 134(2): e172018. Published online 2024 Jan 16. doi: 10.1172/JCI172018

PMCID:: PMC10786702

Article PDF–2.9M

Select item 1078550217.

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report

Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian

J Med Case Rep. 2024; 18: 14. Published online 2024 Jan 12. doi: 10.1186/s13256-023-04295-0

PMCID:: PMC10785502

Article PDF–764K

Select item 1071600618.

Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib

K.A. Krishnamurthy, M.G.S. Rutten, J.A. Hoogerland, T.H. van Dijk, T. Bos, M. Koehorst, M.P. de Vries, N.J. Kloosterhuis, H. Havinga, B.V. Schomakers, M. van Weeghel, J.C. Wolters, B.M. Bakker, M.H. Oosterveer

Mol Metab. 2024 Jan; 79: 101838. Published online 2023 Nov 22. doi: 10.1016/j.molmet.2023.101838

PMCID:: PMC10716006

Article PDF–929K

Select item 1068898719.

A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T

Kentaro Ito, Go Tajima, Chikako Kamisato, Miyuki Tsumura, Mitsuhiro Iwamoto, Yukiko Sekiguchi, Yukinobu Numata, Kyoko Watanabe, Yoshiyuki Yabe, Satomi Kanki, Yusuke Fujieda, Koichi Goto, Yoshitaka Sogawa, Masataka Oitate, Hiroyuki Nagase, Shinnosuke Tsuji, Tomohiro Nishizawa, Masayo Kakuta, Takeshi Masuda, Yoshiyuki Onishi, Makoto Koizumi, Hidefumi Nakamura, Satoshi Okada, Masafumi Matsuo, Kiyosumi Takaishi

J Clin Invest. 2023 Dec 1; 133(23): e163464. Published online 2023 Dec 1. doi: 10.1172/JCI163464

PMCID:: PMC10688987

Article PDF–11M

Select item 1068888820.

Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan

Bushra Gul, Sabika Firasat, Tayyaba Shan, Raeesa Tehreem, Kiran Afshan

PLoS One. 2023; 18(11): e0288965. Published online 2023 Nov 30. doi: 10.1371/journal.pone.0288965

PMCID:: PMC10688888

Article PDF–2.0M

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