Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications-Reference-Cited by-同舟云学术

Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications

Published:2021-10-26 Issue:6 Volume:90 Page:887-900
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Ligezka Anna N.¹²,Radenkovic Silvia¹³⁴⁵,Saraswat Mayank⁶⁷⁸,Garapati Kishore⁶⁷⁸⁹,Ranatunga Wasantha¹,Krzysciak Wirginia²,Yanaihara Hitoshi¹⁰,Preston Graeme¹,Brucker William¹¹,McGovern Renee M.¹²,Reid Joel M.¹²,Cassiman David³¹³,Muthusamy Karthik¹^ORCID,Johnsen Christin¹,Mercimek‐Andrews Saadet¹⁴¹⁵,Larson Austin¹⁶,Lam Christina¹⁷¹⁸,Edmondson Andrew C.¹⁹,Ghesquière Bart⁴⁵,Witters Peter¹³²⁰,Raymond Kimiyo⁶,Oglesbee Devin⁶,Pandey Akhilesh⁶,Perlstein Ethan O.²¹,Kozicz Tamas¹⁶,Morava Eva¹⁶¹³^ORCID

Affiliation:

1. Department of Clinical Genomics Mayo Clinic Rochester MN

2. Department of Medical Diagnostics, Faculty of Pharmacy Jagiellonian University Medical College Krakow Poland

3. Laboratory of Hepatology, Department of CHROMETA KU Leuven Leuven Belgium

4. Department of Oncology KU Leuven Leuven Belgium

5. Metabolomics Expertise Center VIB‐KU Leuven Leuven Belgium

6. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN

7. Institute of Bioinformatics Bangalore India

8. Manipal Academy of Higher Education (MAHE) Manipal India

9. Center for Molecular Medicine National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India

10. Department of Urology Saitama Medical University Saitama Japan

11. Department of Pediatrics, Human Genetics Rhode Island Hospital Providence RI

12. Division of Oncology Research Mayo Clinic College of Medicine Rochester MN

13. Department of Paediatrics, Metabolic Disease Center University Hospitals Leuven Leuven Belgium

14. Division of Clinical and Metabolic Genetics The Hospital for Sick Children Toronto ON Canada

15. Department of Medical Genetics University of Alberta, Stollery Children's Hospital, Alberta Health Services Edmonton AB Canada

16. Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado School of Medicine Aurora CO

17. Division of Genetic Medicine, Department of Pediatrics University of Washington School of Medicine Seattle WA

18. Center for Integrative Brain Research Seattle Children's Research Institute Seattle WA

19. Section of Biochemical Genetics, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA

20. Department of Development and Regeneration, Faculty of Medicine KU Leuven Leuven Belgium

21. Maggie's Pearl LLC Sturgis MI

Funder

Fonds Wetenschappelijk Onderzoek

Korea National Institute of Health

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26245

Reference30 articles.

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2. Recognizable phenotypes in CDG

3. Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

4. Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2‐CDG;Iyer S;Dis Model Mech,2019

5. β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG

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