Associated Papers
Adrenal Dysfunction in Mitochondrial Diseases.
Corkery-Hayward M et al.
International Journal of Molecular Sciences, 2023
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.
Kline BL et al.
Genes, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.
Boocock J et al.
Human Molecular Genetics, 2020
Mitochondrial Dysfunction in Primary Ovarian Insufficiency.
Tiosano D et al.
Endocrinology, 2019
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Jackson CB et al.
Human Molecular Genetics, 2019
Mitochondrial translation factors reflect coordination between organelles and cytoplasmic translation via mTOR signaling: Implication in disease.
Cao X et al.
Free Radical Biology & Medicine, 2016
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ et al.
Human Molecular Genetics, 2015
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