Associated Papers
Nonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease.
Théberge E et al.
Jacc. Case Reports, 2025
40846385 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Conformational Dynamics of Mitochondrial Inorganic Pyrophosphatase hPPA2 and Its Changes Caused by Pathogenic Mutations.
Bezpalaya E et al.
Life (basel, Switzerland), 2025
The crystal structure of yeast mitochondrial type pyrophosphatase provides a model to study pathological mutations in its human ortholog.
Bezpalaya EY et al.
Biochemical and Biophysical Research Communications, 2024
Alcohol-Induced Sudden Cardiac Death in a Teenager With PPA2 Gene Mutations.
Graham S et al.
The American Journal of Forensic Medicine and Pathology, 2023
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Sudden unexpected death in asymptomatic infants due to PPA2 variants.
Phoon CKL et al.
Molecular Genetics & Genomic Medicine, 2020
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Guimier A et al.
American Journal of Human Genetics, 2016
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