Novel phosphopantothenoylcysteine synthetase ( <scp> <i>PPCS</i> </scp> ) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of <scp> <i>PPCS</i> </scp> ‐related disorders-Reference-Cited by-同舟云学术

Novel phosphopantothenoylcysteine synthetase ( PPCS ) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS ‐related disorders

Published:2022-05-26 Issue:9 Volume:188 Page:2783-2789
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Lok Aishin¹,Fernandez‐Garcia Miguel A.²,Taylor Robert W.³⁴,French Courtney⁵,MacFarland Robert³⁴,Bodi Istvan⁶,Champion Michael⁷,Josifova Dragana⁸^ORCID,Raymond Frances Lucy⁵,Iuso Arcangela⁹¹⁰,Jungbluth Heinz²¹¹¹²^ORCID,Milan Anna¹^ORCID,Singh Rahul R.¹¹²

Affiliation:

1. Neonatal Unit, Evelina London Children's Hospital Guy's & St Thomas' Hospital NHS Foundation Trust London UK

2. Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital Guy's & St Thomas' Hospital NHS Foundation Trust London UK

3. Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences University of Newcastle Newcastle Upon Tyne UK

4. NHS Highly Specialised for Rare Mitochondrial Disorders of Adults and Children Newcastle Upon Tyne Hospitals NHS Foundation Trust Newcastle Upon Tyne UK

5. Department of Medical Genetics University of Cambridge Cambridge UK

6. Department of Clinical Neuropathology King's College Hospital NHS Foundation Trust London UK

7. Department of Children's Inherited Metabolic Diseases, Evelina London Children's Hospital Guy's & St Thomas' Hospital NHS Foundation Trust London UK

8. Department of Clinical Genetics, Guy's Hospital Guy's & St Thomas' Hospital NHS Foundation Trust London UK

9. Institute of Neurogenomics, Helmholtz Zentrum Munchen Munich Germany

10. Institute of Human Genetics Technical University of Munich, School of Medicine Munich Germany

11. Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section Faculty of Life Sciences and Medicine (FoLSM) London UK

12. Department of Paediatric Neurology, Evelina London Children's Hospital Guy's & St Thomas' Hospital NHS Foundation Trust London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62848

Reference11 articles.

1. Pantethine Rescues Phosphopantothenoylcysteine Synthetase and Phosphopantothenoylcysteine Decarboxylase Deficiency in Escherichia coli but Not in Pseudomonas aeruginosa

2. Epinephrine Overdose–Associated Hypokalemia and Rhabdomyolysis in a Newborn

3. Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

4. 4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

5. Coenzyme A biosynthetic machinery in mammalian cells

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