Journal article 306 views
Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
William Griffiths 
,
Mohsen Ali Asgari,
Eylan Yutuc ,
Jonas Abdel-Khalik ,
Peter J. Crick ,
Andrew A Morris,
Simon A Jones,
Arunabha Ghosh ,
Claire Hart,
Ludger Schöls,
Silke Matysik ,
Ioanna Laina,
Owen Pickrell ,
Stuart J Moat ,
Yuqin Wang
,
Mohsen Ali Asgari,
Eylan Yutuc ,
Jonas Abdel-Khalik ,
Peter J. Crick ,
Andrew A Morris,
Simon A Jones,
Arunabha Ghosh ,
Claire Hart,
Ludger Schöls,
Silke Matysik ,
Ioanna Laina,
Owen Pickrell ,
Stuart J Moat ,
Yuqin Wang
medRxiv
Swansea University Authors:
William Griffiths , Mohsen Ali Asgari, Eylan Yutuc , Owen Pickrell , 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 betaken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead todisease, often with neurological signs. However, such disorders tend to have non-specific symptomsa...
| Published in: | medRxiv |
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| Published: |
Cold Spring Harbor Laboratory
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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 betaken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead todisease, often with neurological signs. However, such disorders tend to have non-specific symptomsand can be difficult to diagnose. In addition, there is no single diagnostic test applicable to multipledisorders of cholesterol synthesis, metabolism and transport which can be used to suggest or confirma 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 ofmanifold cholesterol-related inherited disorders of metabolism. The library was generated usingtechnology based on simple derivatisation chemistry exploiting the Girard P hydrazine reagent andutilising electrospray ionisation mass spectrometry in the positive and negative modes. |
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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. |