Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy

27 Feb 2024

Abstract excerpt

Human coenzyme A synthase ( COASY ) encodes a bifunctional enzyme containing 4’PP adenyltransferase (PPAT) and dephospho-CoA kinase (DPCK) domains that catalyzes the last two steps of de novo CoA biosynthesis (Supplementary Fig. S1 ) 1 . Biallelic COASY variants have been associated with severe neurodegenerative diseases 2 , 3 . However, no muscular disorders associated with COASY have been reported until now....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Metabolism and Genetic Disorders
Share to Neurological and metabolic disorders
Share to Neurological diseases and metabolism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38413569
DOI: 10.1038/s41421-023-00641-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathyPMID 38413569Read ↗

Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.Semantic proximity Read ↗

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Semantic proximity Read ↗

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.Semantic proximity Read ↗

Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.Semantic proximity Read ↗

Clinical syndromes associated with Coenzyme Q10 deficiency.Semantic proximity Read ↗

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.Semantic proximity Read ↗

Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.Semantic proximity Read ↗

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder: evidence from patients and models of the diseaseSemantic proximity Read ↗

New insights into the nutritional genomics of adult-onset riboflavin-responsive diseasesSemantic proximity Read ↗

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.Semantic proximity Read ↗

Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.