Journal article 705 views
Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
Mohsen Ali Asgari,
Eylan Yutuc 
,
Jonas Abdel-Khalik ,
Peter J. Crick ,
Andrew A Morris,
Simon A Jones,
Arunabha Ghosh ,
Richard Curnock,
Claire Hart,
Ludger Schöls,
Silke Matysik ,
Ioanna Laina,
Evan Reid ,
Thomas Warner ,
Belen Gonzalez-Herrero,
Rajith De Silva,
Owen Pickrell ,
Stuart J Moat ,
William Griffiths ,
Yuqin Wang
,
Jonas Abdel-Khalik ,
Peter J. Crick ,
Andrew A Morris,
Simon A Jones,
Arunabha Ghosh ,
Richard Curnock,
Claire Hart,
Ludger Schöls,
Silke Matysik ,
Ioanna Laina,
Evan Reid ,
Thomas Warner ,
Belen Gonzalez-Herrero,
Rajith De Silva,
Owen Pickrell ,
Stuart J Moat ,
William Griffiths ,
Yuqin Wang
medRxiv
Swansea University Authors:
Mohsen Ali Asgari, Eylan Yutuc , Owen Pickrell , William Griffiths , Yuqin Wang
Full text not available from this repository: check for access using links below.
DOI (Published version): 10.1101/2025.06.23.25328695
Abstract
Cholesterol is an essential molecule in all animals, it can be made by de novo synthesis and can be taken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead to disease, often with neurological signs. However, such disorders tend to have non-specific symptom...
| Published in: | medRxiv |
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| Published: |
openRxiv
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa69955 |
| Abstract: |
Cholesterol is an essential molecule in all animals, it can be made by de novo synthesis and can be taken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead to disease, often with neurological signs. However, such disorders tend to have non-specific symptoms and can be difficult to diagnose. In addition, there is no single diagnostic test applicable to multiple disorders of cholesterol synthesis, metabolism and transport which can be used to suggest or confirm a diagnosis, resulting in a delay in treatment, particularly in the case of unknown genetic variants. Here, we present the first version of a mass spectrometry sterolomic library to aid the diagnosis of manifold cholesterol-related inherited disorders of metabolism. The library was generated using technology based on simple derivatisation chemistry exploiting the Girard P hydrazine reagent and utilising electrospray ionisation mass spectrometry in the positive and negative modes. The library includes data for 13 autosomal recessive disorders and predicted data for a further 8 disorders. |
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| Item Description: |
Preprint article before certification by peer review. |
| College: |
Faculty of Medicine, Health and Life Sciences |
| Funders: |
MRC, BBSRC, Welsh Government through Health and Care Research Wales “BRAIN Unit” Infrastructure Award (Grant no: UA05) and the Advanced NeuroTherapies Centre; and the European Union through European Structural Funds (ESF), as part of the Welsh Government funded Academic Expertise for Business project. |