Elisa Baschiera
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View article: Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction
Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction Open
Skeletal muscles, which constitute 40-50% of body mass, regulate whole-body energy expenditure and glucose and lipid metabolism. Peroxisomes are dynamic organelles that play a crucial role in lipid metabolism and clearance of reactive oxyg…
View article: Characterization of Two Novel <i>PNKP</i> Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
Characterization of Two Novel <i>PNKP</i> Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations Open
Polynucleotide kinase phosphatase (PNKP), encoded by the PNKP gene, is a DNA processing enzyme involved in double‐strand break and single‐strand break repair pathways, which are essential for genome stability and for the correct developmen…
View article: ALTERATIONS IN PEROXISOMAL-MITOCHONDRIAL INTERPLAY IN SKELETAL MUSCLE ACCELERATES MUSCLE DYSFUNCTION
ALTERATIONS IN PEROXISOMAL-MITOCHONDRIAL INTERPLAY IN SKELETAL MUSCLE ACCELERATES MUSCLE DYSFUNCTION Open
Whole-body energy expenditure, as well as glucose and lipid metabolism, are regulated by skeletal muscles, which account for 40-50% of human body mass. Peroxisomes are dynamic organelles that play a crucial role in lipid metabolism and cle…
View article: Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain Open
View article: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain Open
View article: Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants Open
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the NF1 gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular analysis remai…
View article: Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking<i>COQ6</i>
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking<i>COQ6</i> Open
Coenzyme Q (CoQ), a redox-active lipid, is comprised of a quinone group and a polyisoprenoid tail. It is an electron carrier in the mitochondrial respiratory chain, a cofactor of other mitochondrial dehydrogenases, and an essential antioxi…