Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence

Caterina Tezze, Vanina Romanello, María Andrea Desbats, +17

Cell Metabolism

Trichoplein/mitostatin regulates endoplasmic reticulum–mitochondria juxtaposition

Cristina Cerqua, Vassiliki Anesti, Aswin Pyakurel, +6

EMBO Reports

Organelle DynamicMitochondrial BiologyEndoplasmic Reticulum–mitochondria JuxtapositionCellular BiochemistryMedicine +2

Genetics of Coenzyme Q10 Deficiency

Mara Doimo, María Andrea Desbats, Cristina Cerqua, +3

Molecular Syndromology

Primary Coq10 DeficiencyCoenzyme Q10GeneticsGenetic EpidemiologyMolecular Biology +14

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

Daniela De Rocco, Cristina Cerqua, P Goffrini, +8

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

ThrombopoiesisThrombocytopenia Thc4ApoptosisHematologyPathology +5

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, +12

European Journal of Human Genetics

ChromatinGenome InstabilityMeier-gorlin SyndromeMendelian DisorderNew Actor +9

In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy

Bojana Kravić, Angelika B. Harbauer, Vanina Romanello, +21

Autophagy

MitophagyCytoskeletonYeast Tom22Cellular PhysiologySignaling Pathway +21

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

Luis Vázquez-Fonseca, Mara Doimo, Cristina Calderan, +10

Human Mutation

Ambra1 deficiency impairs mitophagy in skeletal muscle

Lisa Gambarotto, Samuele Metti, Martina Chrisam, +13

Journal of Cachexia Sarcopenia and Muscle

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, +14

Orphanet Journal of Rare Diseases

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome

Matteo Cassina, Cristina Cerqua, Silvia Rossi, +4

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular BiologySf3b4 Gene Segregates +6